List of works by Arnold Munnich

3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects

scientific article published on December 1, 1992

A 3‐base pair in‐frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late‐onset hyperammonemic coma

article

A PstI polymorphism at the D5S39 locus

scientific article published in September 1990

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

scientific article

A duplication in the L1CAM gene associated with X-linked hydrocephalus

scientific article published in August 1993

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q

scientific article published on 01 December 2003

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22.

scientific article

A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf

A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1.

scientific article

A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients ⬇️

scientific article published on November 1, 1995

A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10.

scientific article

A gene for Holt–Oram syndrome maps to the distal long arm of chromosome 12

article

A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36.

scientific article

A gene for hereditary multiple exostoses maps to chromosome 19p.

scientific article

A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13.

scientific article published on February 1995

A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31

scientific article

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

scientific article

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

scientific article published on January 2014

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

scientific article

A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

scientific article published on 29 October 2008

A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency

scientific article (publication date: June 1999)

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

scientific article

A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria

scientific article published in December 1992

A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.

scientific article

A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX

A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus

scientific article

A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti

scientific article published on 01 May 2004

A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy

scientific article published in May 2002

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis

scientific article (publication date: December 2002)

A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype

scientific article published in February 2005

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency

scientific article (publication date: March 2005)

A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome.

scientific article

A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome

scientific article

A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22.

scientific article

A novel tyrosine kinase inhibitor restores chondrocyte differentiation and promotes bone growth in a gain-of-function Fgfr3 mouse model

scientific article

A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations

scientific article (publication date: 15 September 2001)

A third locus for dominant optic atrophy on chromosome 22q.

scientific article published in January 2005

A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene

scientific article published in December 1996

A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.

scientific article published on 21 November 2013

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome

scientific article

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation

scientific article

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

scientific article published on 9 January 2013

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

scientific article

Academic impairment is the most frequent complication of neurofibromatosis type-1 (NF1) in children.

scientific article published in September 2006

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

scientific article (publication date: October 1997)

Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance

scientific article

Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia

scientific article

Activation of peroxisome proliferator-activated receptor pathway stimulates the mitochondrial respiratory chain and can correct deficiencies in patients' cells lacking its components

scientific article published on 22 January 2008

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature

scientific article

Allelic heterogeneity of SMARD1 at the IGHMBP2 locus

scientific article

Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis ⬇️

scientific article published on August 1, 1992

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations

scientific article published in May 2008

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

scientific article published on 21 September 2016

An activating Fgfr3 mutation affects trabecular bone formation via a paracrine mechanism during growth.

scientific article

An animal model for maternal phenylketonuria

scientific article

An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses.

scientific article

An extracorporeal hollow-fiber reactor for phenylketonuria using immobilized phenylalanine ammonia lyase

scientific article published on January 1986

Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis

scientific article published on 9 September 2005

Anatomical and functional brain imaging evidence of lenticulo-insular anomalies in Smith Magenis syndrome

scientific article

Angiomatous and cerulodermic macules: early cutaneous signs of neurofibromatosis type I

scientific article published in September 1998

Another observation with VATER association and a complex IV respiratory chain deficiency

scientific article published in January 2006

Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases.

scientific article published in February 2004

Antenatal manifestations of mitochondrial respiratory chain deficiency

scientific article

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

scientific article

Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism

Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome

scientific article published in August 1994

Approach to the patient with a fatty acid oxidation disorder

scientific article published on January 1, 1992

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

scientific article

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

scientific article published on February 2013

Assay of mitochondrial respiratory chain complex I in human lymphocytes and cultured skin fibroblasts

scientific article published in January 2003

Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy

scientific article

Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q

scientific article (publication date: October 1993)

B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?

scientific article published in July 2001

Beta 1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome

scientific article

Biochemical parameters for the diagnosis of mitochondrial respiratory chain deficiency in humans, and their lack of age-related changes

scientific article published on January 1998

Birth of healthy female twins after preimplantation genetic diagnosis of cystic fibrosis combined with gender determination.

scientific article

Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?

scientific article published on January 1992

Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13.

scientific article published in February 1999

C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease

scientific article

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

scientific article

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

scientific article

CHARGE syndrome: report of 47 cases and review

scientific article

CTG trinucleotide repeat "big jumps": large expansions, small mice

scientific article

Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects

scientific article

Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes.

scientific article published in December 2002

Cell functions impaired by frataxin deficiency are restored by drug-mediated iron relocation

scientific article published on 16 September 2008

Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis

scientific article (publication date: February 2003)

Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease

scientific article

Circadian rhythm disorder in a rare disease: Smith-Magenis syndrome

scientific article

Clinical and biochemical heterogeneity associated with fumarase deficiency

scientific article published on 12 July 2011

Clinical and genetic heterogeneity in retinitis pigmentosa

scientific article

Clinical and genetic heterogeneity of hypochondroplasia

scientific article

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France

scientific article published on December 1988

Clinical and molecular overlap in overgrowth syndromes.

scientific article published in August 2005

Clinical approach to inherited metabolic disorders in neonates

scientific article published on January 1990

Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome.

scientific article published on 26 March 2014

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome

scientific article (publication date: December 2003)

Clinical homogeneity of the Stüve‐Wiedemann syndrome and overlap with the Schwartz‐Jampel syndrome type 2

Clinical spectrum and diagnosis of mitochondrial disorders

scientific article

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

scientific article published on 19 July 2018

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome

scientific article published in July 2008

Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases

scientific article published in March 2003

Co-amplification of nuclear pseudogenes and assessment of heteroplasmy of mitochondrial DNA mutations

scientific article published on June 1998

Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits

scientific article

Coenzyme Q10 depletion is comparatively less detrimental to human cultured skin fibroblasts than respiratory chain complex deficiencies

scientific article

Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation

scientific article published on December 2009

Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts

scientific article

Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism

scientific article

Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype.

scientific article published in September 2001

Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA).

scientific article published in May 2001

Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease

scientific article

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.

scientific article published on 28 December 2016

Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family

scientific article published on 28 March 2009

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

Contiguous mutation syndrome in the era of high-throughput sequencing

scientific article published on 18 March 2015

Contribution to carrier detection and genetic counselling in X linked retinoschisis ⬇️

scientific article published on June 1, 1991

Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibrate

scientific article published on 2 July 2003

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 01 August 2019

Correlation between severity and SMN protein level in spinal muscular atrophy

scientific article published on July 1997

CpG dinucleotides are mutation hot spots in phenylketonuria

scientific article published in November 1989

Craniofacial anomalies and malformations in respiratory chain deficiency

scientific article published on December 1996

Craniosynostosis and kidney malformation in a case of Hennekam syndrome.

scientific article

Cyclic AMP as a transcriptional inhibitor of upper eukaryotic gene transcription

scientific article published in 1984

Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria ⬇️

scientific article published on July 1, 1995

DNA and Duchenne de Boulogne myopathy

scientific article published in October 1985

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III

scientific article

Data from artificial models of mitochondrial DNA disorders are not always applicable to humans

scientific article published in May 2014

De novo deletions in spinal muscular atrophy: implications for genetic counselling

scientific article published on January 1997

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

scientific article

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

scientific article published on 01 July 2018

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).

scientific article published in November 2010

Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndrome.

scientific article published on November 1992

Delayed bone age due to a dual effect of FGFR3 mutation in Achondroplasia.

scientific article published on 29 July 2010

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

scientific article

Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction Syndrome

Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis

scientific article published in April 2001

Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement

scientific article published on 2 November 2005

Detection of genetic carriers and antenatal diagnosis of juvenile retinoschisis by familial analysis in molecular biology

scientific article published in October 1988

Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method

scientific article published in April 2001

Diagnostic génétique préimplantatoire et grossesses spontanées : un passage à l'acte inattendu

scientific article published on 08 April 2005

Dietary and hormonal regulation of aldolase B gene expression

scientific article

Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis

scientific article published on April 1999

Differential effects of glucose and fructose on liver L-type pyruvate kinase gene expression in vivo

scientific article published on December 1987

Dinucleotide repeat polymorphism at the human recoverin RCVI gene locus on chromosome 17p.

scientific article

Discontinuity in the fall of left-handedness in a French population: a May '68 effect?

scientific article

Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA.

scientific article published on January 2006

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

scientific article

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

scientific article

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome

scientific article

Dysmorphism, variable overgrowth, normal bone age, and severe developmental delay: a "Sotos-like" syndrome?

scientific article published in February 2002

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

scientific article published on December 2012

EXT 1 gene mutation induces chondrocyte cytoskeletal abnormalities and defective collagen expression in the exostoses

scientific article published on August 2000

Early grade repetition and inattention associated with neurofibromatosis type 1.

scientific article published on 9 May 2007

Enzymatic activities of the mitochondrial respiratory chain in child cardiomyopathies. 34 cases prospectively studied by endomyocardial biopsy

scientific article published on May 1, 1992

Epileptic phenotypes in children with respiratory chain disorders

scientific article published on 19 February 2010

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

scholarly article

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease

scientific article

Epithelial barrier dysfunction in desmoglein-1 deficiency

scientific article published on 27 April 2018

Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia

scientific article

Evidence for a fourth locus in Usher syndrome type I.

scientific article

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

scientific article published in October 2002

Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease

scientific article

Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association

scientific article published on 01 December 1996

Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type

scientific article

Exclusion of five subunits of cGMP phosphodiesterase in Leber's congenital amaurosis

scientific article published in March 1998

Exclusion of linkage between D3S47 (C17) and ADRPII gene in two large families of moderate autosomal dominant retinitis pigmentosa: evidence for genetic heterogeneity

scientific article published on January 1990

Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation

scientific article published on May 2005

Exclusion ofWNT4 as a major gene in Rokitansky-Küster-Hauser anomaly

article

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia

scientific article

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

scientific article

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis

scientific article

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

scientific article

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

scientific article

Expanding the skeletal phenotype of Loeys-Dietz syndrome.

scientific article

Expressed sequence tag database screening for identification of human genes

scientific article

Expression of respiratory chain deficiencies in human cultured cells

scientific article published on September 1993

Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome.

scientific article published in July 2000

Expression of the SMADIP1 gene during early human development

scientific article

Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly

scientific article published on September 1999

Extracellular proteases and their inhibitors in genetic diseases of the central nervous system

scientific article

Facial anomalies in D-2-hydroxyglutaric aciduria

scientific article

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome

scientific article

Familial hyperproinsulinaemia due to a mutation substituting histidine for arginine at position 65 in proinsulin: identification of the mutation by restriction enzyme mapping

scientific article

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

scientific article

Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene ⬇️

scientific article published on December 1, 1991

Fate and expression of the deleted mitochondrial DNA differ between human heteroplasmic skin fibroblast and Epstein-Barr virus-transformed lymphocyte cultures.

scientific article published on September 1993

Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene

scientific article published on August 2006

Features of DiGeorge syndrome and CHARGE association in five patients

scientific article

Filippi syndrome: a new case with skeletal abnormalities

scientific article

Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack

scientific article

First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency

scientific article published on 01 December 2000

For debate: defective mitochondria, free radicals, cell death, aging-reality or myth-ochondria?

scientific article

Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome

scientific article published on 30 May 2012

Functional disomy of the Xq28 chromosome region

scientific article

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

scientific article

GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype

scientific article published in September 2001

GeneRetriever: software to extract all genes and transcripts in between two genetic markers to assist design of human custom microarrays.

scientific article published in August 2005

Genetic association study of mitochondrial polymorphisms in neovascular age-related macular degeneration

scientific article published on 29 May 2013

Genetic background of clinical homogeneity of phenylketonuria in Poland

scientific article published on March 1993

Genetic characterisation of circulating fetal cells allows non-invasive prenatal diagnosis of cystic fibrosis

scientific article published on 01 October 2006

Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form

scientific article published on 19 October 2013

Genetic features of mitochondrial respiratory chain disorders

scientific article published on December 2003

Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia

scientific article

Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis

scientific article

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium

scientific article (publication date: 25 May 2000)

Genotype-phenotype correlation in hereditary multiple exostoses

scientific article

Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome

scientific article (publication date: May 2003)

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

scientific article

Germline gain-of-function mutations of ALK disrupt central nervous system development

scientific article published in March 2011

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma

scientific article

Heart hypertrophy and function are improved by idebenone in Friedreich's ataxia

scientific article

Heart transplantation in children with mitochondrial cardiomyopathy

scientific article

Heterogeneity of leucinosis. Correlations between clinical manifestations, protein tolerance and enzyme deficiency

scientific article published on December 1982

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

scientific article published on 12 January 2013

Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome

scientific article published on 14 July 2016

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

scientific article

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

scientific article (publication date: March 2009)

Hirschsprung disease, associated syndromes and genetics: a review

scientific article

Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease

scientific article published in March 2005

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.

scientific article

Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1

scientific article

Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2

scientific article (publication date: April 2002)

Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).

scientific article published in May 2008

Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).

scientific article

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

scientific article

Hudson Memorial Lecture Neonatal Management of Organic Acidurias. Clinical Update

Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update

scientific article

Human immortalized chondrocytes carrying heterozygous FGFR3 mutations: an in vitro model to study chondrodysplasias

scientific article published on 8 May 2007

Human neural crest cells display molecular and phenotypic hallmarks of stem cells

scientific article published on 08 August 2008

Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated cases

scientific article

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 12 September 2018

ISL1 directly regulates FGF10 transcription during human cardiac outflow formation

scientific article

Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia

scientific article published on April 2002

Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial

scientific article published in February 2004

Identification of CANT1 mutations in Desbuquois dysplasia

scientific article published on 22 October 2009

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

scientific article

Identification of mutations in CUL7 in 3-M syndrome

scientific article

Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.

scientific article published in January 1998

Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence

scientific article

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation

scientific article published in February 2018

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

scientific article

Improved single-cell protocol for preimplantation genetic diagnosis of spinal muscular atrophy.

scientific article published in September 2005

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation

scientific article

In situ hybridization of two markers closely flanking the spinal muscular atrophy gene to 5q12----q13.3.

scientific article published in January 1991

In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann Syndrome

scientific article published on January 2010

In vivo regulation of glycolytic and gluconeogenic enzyme gene expression in newborn rat liver

scientific article published on June 1988

Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human

scientific article

Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations

scientific article published on February 2007

Incomplete penetrance and expressivity skewing in hereditary multiple exostoses

scientific article

Incomplete penetrance and expressivity skewing in hereditary multiple exostoses

Infantile and pediatric quinone deficiency diseases

scientific article published on 16 March 2007

Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease

scientific article published on 12 December 2013

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

scientific article published on 30 November 2011

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis

scientific article

Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome.

scientific article published in June 2006

Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations

article published in 2005

Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells

scientific article published on September 2015

Inversion of the circadian melatonin rhythm in Smith-Magenis syndrome

scientific article

Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome

scientific article (publication date: July 2001)

Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation

scientific article

Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay

scientific article published on June 2000

Isolation and characterization of mitochondria from human B lymphoblastoid cell lines

scientific article published on July 15, 1992

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

scientific article

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

scientific article published in July 2010

Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti

scientific article published on 26 February 2017

Lamin a truncation in Hutchinson-Gilford progeria.

scientific article

Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy

scientific article

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease

scientific article

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

scientific article

Leber congenital amaurosis

scientific article

Leber congenital amaurosis--genotyping required for possible inclusion in a clinical trial

scientific article published on January 2003

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

scientific article

Les années 2000

Linkage analysis in spinal muscular atrophy, by six closely flanking markers on chromosome 5

scientific article

Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome

scientific article published on August 2000

Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patients.

scientific article published in January 2004

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations

scientific article published on 25 June 2009

Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?

scientific article published in January 1995

MAOB: a modifier gene in phenylketonuria?

scientific article

MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

scientific article

MED23 mutation links intellectual disability to dysregulation of immediate early gene expression

scientific article published in August 2011

MRI findings in 77 children with non-syndromic autistic disorder

scientific article

MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice

scientific article

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

scientific article

Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.

scientific article

Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.

scientific article published in May 2002

Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

scientific article

Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up.

scientific article

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia ⬇️

scientific article published on February 1, 1992

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6

scientific article published on 11 April 2007

Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome

scientific article (publication date: March 2001)

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma

scientific article published on 31 August 2007

Microsatellite DNA markers detects 95% of chromosome 22q11 deletions

scientific article published on 01 January 1997

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)

scientific journal article

Mitochondria transfection by oligonucleotides containing a signal peptide and vectorized by cationic liposomes

scientific article published in June 2001

Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome

scientific article

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood

Mitochondrial DNA inheritance in patients with deleted mtDNA.

scientific article published on September 2001

Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis

scientific article

Mitochondrial disorders

scientific article published in January 2009

Mitochondrial double-stranded RNA triggers antiviral signalling in humans

scientific article published in Nature

Mitochondrial respiratory chain complex assembly and function during human fetal development.

scientific article

Mitochondrial respiratory chain dysfunction caused by coenzyme Q deficiency

scientific article published on January 2004

Modeling of antigenomic therapy of mitochondrial diseases by mitochondrially addressed RNA targeting a pathogenic point mutation in mitochondrial DNA

scientific article

Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study

scientific article published in February 2006

Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations

scientific article

Molecular basis of mendelian disorders among Jews

scientific article

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction

scientific article

Molecular diagnostics of mitochondrial disorders

scientific article

Molecular insights into Friedreich's ataxia and antioxidant-based therapies

scientific article

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

scientific article published on 17 March 2011

Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum

scientific article published on April 2004

Molecular spectrum of autosomal dominant hypercholesterolemia in France

scientific article

Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus

scientific article

Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis

scientific article (publication date: June 2005)

Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: Implications for disease mechanisms and recurrence risks

Mosaicism in ATP1A3-related disorders: not just a theoretical risk

scientific article published on 10 October 2016

Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France

article

Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes

scientific article (publication date: 15 October 2001)

Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy

scientific article

Multiplex Ligation-dependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndrome

scientific article

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

scientific article

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

scientific article

Mutant WD-repeat protein in triple-A syndrome

scientific article (publication date: November 2000)

Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography

article

Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis.

scientific article

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

scientific article

Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency

scientific article

Mutation in TTI2 reveals a role for triple T complex in human brain development

scientific article published on 10 September 2013

Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy

scientific article published on 12 March 2012

Mutation in myosin heavy chain 6 causes atrial septal defect

scientific article

Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure.

scientific article

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

scientific article

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

scientific article

Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease

scientific article

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

scientific article

Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease

scientific article

Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency

scientific article

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

scientific article (publication date: April 2009)

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

scientific article

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.

scientific article

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness

scientific article

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis

scientific article

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

scientific article

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

scientific article published on 9 July 2015

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

scientific article published in December 2007

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

scientific article

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

scientific article published in July 2006

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures

scientific article

Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome

scientific article published on 11 December 2014

Mutations in SURF1 are not specifically associated with Leigh syndrome

scientific article published in February 2001

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

scientific article

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

scientific article

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome

scientific article (publication date: February 2003)

Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes

scientific article

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

scientific article

Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome

scientific article

Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency

scientific article published on 18 April 2013

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

scientific article

Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis.

scientific article

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia

scientific article

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

scientific article published in September 1994

Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts

scientific article

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

scientific article published on 28 October 2014

Mutations of the RET proto-oncogene in Hirschsprung's disease

scientific article

Mutations of the TWIST gene in the Saethre-Chotzen syndrome

scientific article

Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus

scientific article

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

scientific article

Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB

scientific article

Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour

scientific article published on 11 February 2013

Myotonic dystrophy: does it affect ovarian follicular status and responsiveness to controlled ovarian stimulation?

scientific article published on 30 September 2005

NDP gene mutations in 14 French families with Norrie disease.

scientific article published in December 2003

NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement

scientific article published on 11 March 2009

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

scientific article published in April 2012

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications

scientific article published on 18 July 2012

Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood

scientific article

Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria).

scientific article

Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease

scientific article published in August 1986

Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain

scientific article

Neurotrypsin mutations and mental retardation

scientific article published in May 2003

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

scientific article

New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation.

scientific article published in January 2008

New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling

scientific article

New insights in congenital bowing of the femora

scientific article published in September 2004

New insights into genotype-phenotype correlation for GLI3 mutations

scientific article

Nicotinamide adenine dinucleotides permeate through mitochondrial membranes in human Epstein-Barr virus-transformed lymphocytes

scientific article published on September 1997

No association between the T280M polymorphism of the CX3CR1 gene and exudative AMD.

scientific article published on 20 May 2011

No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells

scientific article published on 9 January 2017

No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families

article

No evidence of genetic heterogeneity in dominant optic atrophy

scientific article

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome

scientific article

Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].

scientific article published on 26 May 2015

Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)

scientific article

Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

scientific article published on 16 October 2012

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

scientific article

Nuclear outsourcing of RNA interference components to human mitochondria

scientific article (publication date: 2011)

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome

scientific article

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

scientific article

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

scientific article published in January 2011

Origins of hyperphenylalaninemia in Israel.

scientific article published in January 1994

Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance

scientific article published in January 2002

Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother

scientific article published in June 2002

Overexpression of FGFR3, Stat1, Stat5 and p21Cip1 correlates with phenotypic severity and defective chondrocyte differentiation in FGFR3-related chondrodysplasias

scientific article published on January 2004

Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature

scientific article

PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism

PHOX2B gene mutation in a patient with late-onset central hypoventilation

scientific article published in October 2004

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome

scientific article

PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome

scientific article published on 13 December 2007

Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome.

scientific article published in September 1999

Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome

scientific article

Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders

scientific article published on 11 September 2013

Parental origin of the X chromosomes in Rett syndrome

scientific article published on September 1, 1992

Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation.

scientific article published in June 2001

Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties

scientific article

Pearson syndrome in the neonatal period: two case reports and review of the literature

scientific article

Pearson's syndrome: a multi-system disorder based on a mt-DNA deletion

scientific article published on December 1, 1991

Physical and genetic localization of the gamma subunit of the cyclic GMP phosphodiesterase on the long arm of chromosome 17 (17q25).

scientific article

Pierre Robin Sequence: A series of 117 consecutive cases

Pitfalls in molecular diagnosis of Friedreich ataxia.

scientific article published on 9 March 2018

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

scientific article

Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness

scientific article

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

scientific article

Polyalanine expansions in human

scientific article published in October 2004

Polyalanine expansions might not result from unequal crossing-over

article by Delphine Trochet et al published 2007 in Human Mutation

Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans.

scientific article

Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example

scientific article published on 8 August 2007

Pre-implantation genetic diagnosis in pulmonary arterial hypertension due to BMPR2 mutation.

scientific article

Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease.

scientific article

Prenatal cortical hyperostosis with COL1A1 gene mutation

scientific article

Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature

scientific article

Prenatal diagnosis of a satellited non-acrocentric chromosome derived from a maternal translocation (10;13)(p13;p12) and review of literature

scientific article

Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development ⬇️

scientific article published on 11 May 2006

Prenatal diagnosis of respiratory chain deficiency by direct mutation screening

Prenatal exclusion of X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence using closely linked DNA markers

scientific article published in June 1993

Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

scientific article

Presentation of six cases of Stüve-Wiedemann syndrome

Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome.

scientific article published in March 1997

Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations

article

Prévenir la transmission des mutations de l’ADN mitochondrial : mythe ou réalité ?

article

Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency

scientific article

R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population

scientific article

RET in human development and oncogenesis

scientific article published on May 1997

RPL10mutation segregating in a family with X-linked syndromic Intellectual Disability

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

scientific article published on 27 April 2016

Recent advances in Dyggve-Melchior-Clausen syndrome

scientific article published in September 2004

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

scientific article

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

article

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

scientific article published on 20 April 2016

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly

Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism

scientific article published in May 1999

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

scientific article

Recurrent meiotic nondisjunction of maternal chromosome 15 in a sibship

Redistribution of accumulated cell iron: a modality of chelation with therapeutic implications

scientific article published on November 2007

Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25

scientific article

Refining the phenotype associated with CASC5 mutation

scientific article published on December 2015

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

scientific article published in March 2006

Respiratory chain deficiency presenting as congenital nephrotic syndrome

scientific article published on 29 January 2005

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

scientific article

Rett phenotype with X/autosome translocation: possible mapping to the short arm of chromosome X.

scientific article published in January 1990

Revisiting pitfalls, problems and tentative solutions for assaying mitochondrial respiratory chain complex III in human samples

scientific article published on January 2004

Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia.

scientific article

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

scientific article

SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease

scientific article

SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions

scientific article

Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location

scientific article

Screening human EST database for identification of candidate genes in respiratory chain deficiency

scientific article published in March 2000

Segregation analysis in nonsyndromic holoprosencephaly

scientific article published in May 1998

Segregation at three loci explains familial and population risk in Hirschsprung disease

scientific article published on 15 April 2002

Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders

scientific article

Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system

scientific article

Selective iron chelation in Friedreich ataxia: biologic and clinical implications

scientific article published on 22 March 2007

Septo-optic dysplasia and digital anomalies: another observation

scientific article

Sequence and structure of the human OXA1L gene and its upstream elements ⬇️

scientific article published on July 10, 1997

Severe manifestations in carrier females in X linked retinitis pigmentosa

scientific article

Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti

scientific article published on 10 July 2017

Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28.

scientific article published on 12 December 2003

Single cell quantification of the 8993T>G NARP mitochondrial DNA mutation by fluorescent PCR

scientific article published on 09 December 2004

Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy.

scientific article

Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria

scientific article published on June 1991

Site specific screening for point mutations in ornithine transcarbamylase deficiency ⬇️

scientific article published on July 1, 1992

Somatic mosaicism for SLC1A1 mutation supports threshold effect and familial aggregation in schizophrenia spectrum disorders.

scientific article published on 28 November 2017

Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene.

scientific article published on 27 November 2007

Spatio-temporal expression of FGFR 1, 2 and 3 genes during human embryo-fetal ossification.

scientific article published in September 1998

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online

scientific article

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

scientific article

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype

scientific article published in March 2010

Spectrum of retGC1 mutations in Leber's congenital amaurosis

scientific article

Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD

scientific article

Stabilization of RNA during laser capture microdissection by performing experiments under argon atmosphere or using ethanol as a solvent in staining solutions

scientific article

Stargardt's disease is not allelic to the genes for neuronal ceroid lipofuscinoses

scientific article published on March 1994

Sternal cleft: case report and review of a series of nine patients

scientific article published on November 1995

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1 ⬇️

scientific article published on May 1, 1995

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

scientific article published in May 2009

Structure and organization of the human survival motor neurone (SMN) gene

scientific article

Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD)

scientific article

Structure and refinement of the physical mapping of the gamma- glutamylcysteine ligase regulatory subunit (GLCLR) gene to chromosome 1p22.1 within the critically deleted region of human malignant mesothelioma

scientific article

Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia

article by Caroline Michot et al published 6 April 2012 in Journal of Inherited Metabolic Disease

Submicroscopic deletions at 13q32.1 cause congenital microcoria

scientific article

Succinate dehydrogenase and human diseases: new insights into a well-known enzyme

scientific article

Sulphate transporter gene mutations in apparently isolated club foot

scientific article published in March 2001

Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA.

scientific article published in May 2001

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association

scientific article published on September 1996

Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome

scientific article

TCTN3 mutations cause Mohr-Majewski syndrome

scientific article

TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane

scientific article published on 13 March 2013

Tequila, a neurotrypsin ortholog, regulates long-term memory formation in Drosophila

scientific article

Thanatophoric dysplasia caused by double missense FGFR3 mutations.

scientific article published in June 2009

The ABCA4 gene in autosomal recessive cone-rod dystrophies

scientific article published in December 2002

The ABCR gene: a major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderly

scientific article

The EDAR370A allele attenuates the severity of hypohidrotic ectodermal dysplasia caused by EDA gene mutation

article

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

scientific article

The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes

scientific article

The RNA-binding properties of SMN: deletion analysis of the zebrafish orthologue defines domains conserved in evolution

scientific article published in May 1999

The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease

scientific article

The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24) ⬇️

scientific article published on October 1, 1992

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia

scientific article

The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle.

scientific article published in November 1990

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda

scientific article

The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene

scientific article published in July 2009

The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia

scientific article

The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset

scientific article

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

scientific article

Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome

scientific article published on 22 June 2020

Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).

scientific article

Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?

scientific article published in June 2002

Transcriptional and post-transcriptional regulation of L-type pyruvate kinase gene expression in rat liver

scientific article published in June 1986

Transcriptionally Repressive Chromatin Remodelling and CpG Methylation in the Presence of Expanded CTG-Repeats at the DM1 Locus

scientific article published on 23 December 2013

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect

scientific article published on 10 June 2011

Tricuspid atresia and conotruncal malformations in five families

scientific article published in April 1999

Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy

scientific article published in December 2001

Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation

scientific article

Two distinct mutations at a single BamHI site in phenylketonuria ⬇️

scientific article published on January 1, 1991

Tyrosine kinase inhibitor NVP-BGJ398 functionally improves FGFR3-related dwarfism in mouse model.

scientific article published on 11 April 2016

USH1A: chronicle of a slow death

scientific article

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype

scientific article

Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood

scientific article published on 17 September 2014

Upper limb malformations in DiGeorge syndrome

Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity

scientific article published in January 1990

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

scientific article published on 4 May 2016

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia

scientific article published on 31 October 2013

Werner mesomelic dysplasia with Hirschsprung disease

Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays

scientific article

Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome

scientific article

X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus

scientific article

XNP mutation in a large family with Juberg-Marsidi syndrome

scientific article

XYLT1 mutations in Desbuquois dysplasia type 2.

scientific article published on 27 February 2014

Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.

scientific article

[Jean Frézal, and the emergence of medical genetics].

scientific article published in November 2008

[Molecular genetics of Hirschsprung disease: a model of multigenic neurocristopathy]

scientific article published in January 2000

[Mutations of RET proto-oncogene in Hirschsprung disease].

scientific article published in April 1994

[Twenty years of on-site clinical genetics consultations for people with ASD]

scientific article published on 01 November 2019

beta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome

scientific article

cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn).

scientific article published in February 1997

cDNA sequence, genomic organization and mapping of PDE6D, the human gene encoding the delta subunit of the cGMP phosphodiesterase of retinal rod cells to chromosome 2q36.

scientific article

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation

scientific article

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