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List of works by Stanislas Lyonnet

1283 del A: A Novel Mutation in Exon 8 of the Cystic Fibrosis Gene

article

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation

scientific article published on 6 January 2009

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.

scientific article

A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria

scientific article published in Journal of Biological Chemistry

A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung‘s disease

scientific article published on 01 August 1994

A CGH study of 27 patients with CHARGE association

scientific article published on 01 February 2002

A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome

A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome.

scientific article published in August 2012

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

scientific article published in August 2013

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

scientific article published in August 1993

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

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

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 human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome

scientific article

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

scientific article published on January 2000

A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria

scientific article published on February 1993

A new case of exomphalos, short limbs, and macrogonadism syndrome

scientific article published in March 2001

A new lethal syndrome of exomphalos, short limbs, and macrogonadism

scientific article

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.

scientific article published in May 2001

A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12

article

A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate

scientific article

A novel polymorphism in the coding sequence of the human RET proto-oncogene

article

A review of craniofacial disorders caused by spliceosomal defects

scientific article published on 11 April 2015

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

scientific article published on 9 January 2013

Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case report.

scientific article published on October 2001

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

scientific article published in September 2006

Adams-Oliver syndrome and hepatoportal sclerosis: Occasional association or common mechanism?

article published in 2005

Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient

Additional clinical and molecular analyses ofTFAP2Ain patients with the branchio-oculo-facial syndrome

Advances in genetics: what benefits children?

scientific article published in November 1996

Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease

scientific article published on 08 November 2006

Altered SOX9 genital tubercle enhancer region in hypospadias

scientific article published on 28 October 2016

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

scientific article published in September 1998

Anomalies de développement et prédisposition aux tumeurs de l’enfant

scientific article published on 03 July 2010

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations

scientific article published on 28 September 2012

Apolipoprotein-E-gene expression in rat liver during development in relation to insulin and glucagon

scientific article published in April 1989

Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome

scientific article published in August 1994

Apport de la génétique

scientific article published on 01 January 1999

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

scientific article published on 13 July 2006

Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature

scientific article published in August 2004

Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.

scientific article

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

Bases génétiques et moléculaires des neurocristopathies

scientific article published on 16 April 2007

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

scientific journal 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

C5orf42 is the major gene responsible for OFD syndrome type VI.

scientific article published on November 2013

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

CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development

scientific article published on 19 July 2005

CHARGE syndrome: report of 47 cases and review

scientific article

CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome

scientific article

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

scientific article

Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: Macrocephaly-cutis marmorata telangiectatica congenita syndrome or new disorder?

scientific article published on 01 January 2003

Cholinergic switch associated with morphological differentiation in neuroblastoma

scientific article published in December 2009

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

scientific article

Cis-ruptions of highly conserved non-coding genomic elements distant from the SOX9 gene in the Pierre Robin sequence

scientific article published on 11 August 2011

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease

article

Clinical and genetic heterogeneity of Seckel syndrome.

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 and molecular spectrum of renal malformations in Kabuki syndrome

scientific article published on 25 March 2013

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

scientific article published on 01 June 1998

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

Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.

scientific article published on 21 April 2015

Co-segregation of MEN2 and Hirschsprung's disease: the same mutation of RET with both gain and loss-of-function?

scientific article

Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.

scientific article

Congenital heart defects in patients with deletions upstream of SOX9.

scientific article published on 18 October 2013

Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia).

scientific article

Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes

scientific article

Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model

scientific article

CpG dinucleotides are mutation hot spots in phenylketonuria

scientific article published in November 1989

Craniosynostosis and kidney malformation in a case of Hennekam syndrome

scientific article

Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphism

scientific article published on 01 April 2007

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis

scientific journal article

De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy

scientific article published on 25 March 2017

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

scientific article

De-novo mutations of the RET proto-oncogene in Hirschsprung's disease

scientific article published in The Lancet

Deletion of Pten in the mouse enteric nervous system induces ganglioneuromatosis and mimics intestinal pseudoobstruction

scientific article

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

scientific article

Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction Syndrome

Developmental outcome in Pierre Robin sequence: A longitudinal and prospective study of a consecutive series of severe phenotypes

Dicentric marker derived from chromosome 22 associated with mild clinical signs: a case report

scientific article published in February 2000

Dietary and hormonal regulation of L-type pyruvate kinase gene expression in rat small intestine

scientific article published in July 1987

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability

scientific article

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

scientific article published on December 1987

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

scientific article

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

scientific article published on March 2016

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

scientific article

Disruption of long‐distance highly conserved noncoding elements in neurocristopathies ⬇️

scientific article published on December 1, 2010

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

scientific article

Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene

scientific article published in December 1994

Dysfonctionnement du tronc cérébral et cardiopathies congénitales

scientific article published on 01 May 2000

Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion

scientific article (publication date: June 1999)

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

Early grade repetition and inattention associated with neurofibromatosis type 1.

scientific article published on 9 May 2007

Early prognostic factors for intellectual outcome in CHARGE syndrome

scientific article published on July 2003

Ebstein anomaly associated with rearrangements of chromosomal region 11q

scientific article published on 2 November 1998

Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome.

scientific article published in May 2004

Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.

scientific article published on July 1997

Enhancer mutations and phenotype modularity

scientific article published in January 2014

Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome?

scientific article

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

Estimating the age of rare disease mutations: the example of Triple-A syndrome.

scientific article published in June 2004

Evaluation of methods for amplification of picogram amounts of total RNA for whole genome expression profiling

scientific article

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 ofRNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse)

article

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

article

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis

scientific article

Expression of c-myc is under dietary control in rat liver.

scientific article published in July 1987

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 theRET proto-oncogene in human Embryos

scientific article published on 28 December 1998

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

article published in 2014

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

scientific article

Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability

scientific article (publication date: August 2007)

Familial Forms of Thyroid Dysgenesis among Infants with Congenital Hypothyroidism

Features of DiGeorge syndrome and CHARGE association in five patients ⬇️

scientific article published on December 1, 1997

Finger creases lend a hand in Kabuki syndrome.

scientific article

First-trimester prenatal diagnosis in quintuplets: a practical approach using step-by-step embryo reduction

scientific article published in September 1991

Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome).

scientific article published on December 2003

From monogenic to polygenic: model of Hirschsprung disease

scientific article published in November 1998

Functional assessment of disease-associated regulatory variants in vivo using a versatile dual colour transgenesis strategy in zebrafish

scientific article published on June 2015

Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: evidence for selective loss of Gi coupling

scientific article

Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling

scientific article

Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability

scientific article

Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations

article

Further delineation of the KAT6B molecular and phenotypic spectrum

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 background of clinical homogeneity of phenylketonuria in Poland

scientific article published on March 1993

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 counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

scientific article

Genetic factors in isolated and syndromic esophageal atresia

scientific article published on May 2011

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

scientific article

Genetics and early disturbances of breathing control

scientific article

Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation.

scientific article published in July 2000

Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation.

scientific article published in August 2004

Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions.

scientific article published on 27 April 2007

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

scientific article

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 RET ligand GDNF are not sufficient to cause Hirschsprung disease

scientific article

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

scientific article

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

article

Gorlin syndrome presenting as prenatal chylothorax in a girl.

scientific article published on November 2005

Grands-parents et pratiques de génétique

Guthrie cards for detection of point mutations in phenylketonuria

scientific article

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

scientific article published on 12 January 2013

Heterozygous Bile Salt Export Pump Deficiency: A Possible Genetic Predisposition to Transient Neonatal Cholestasis

scientific article published on 01 January 2006

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease

scientific article (publication date: March 1996)

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

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

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 locus for a novel syndromic ichthyosis to chromosome 3q27-q28.

scientific article

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

scientific article published in May 2008

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

scientific article

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

scientific article published on 08 August 2008

IIlegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria

article

ISL1 directly regulates FGF10 transcription during human cardiac outflow formation

scientific article

Identification of 23TGFBR2and 6TGFBR1gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

article

Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family

article

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

scientific article

Identification of mutation of RET proto-oncogene in Hirschsprung disease

scientific article published in January 1994

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

Idiopathic achalasia is not allelic to alacrima achalasia adrenal insufficiency syndrome at the ALADIN locus

scientific article (publication date: May 2005)

Impact de l' information génétique dans les maladies ⪡pas comme les autres⪢

Impaired autonomic control of the heart by SOX10 mutation

scientific article published on 01 January 2001

Impaired mitochondrial pyruvate importation in a patient and a fetus at risk

scientific article

Improvement of cystic fibrosis using antitumoral drugs: a hypothesis.

scientific article

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

scientific article

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

scientific article published on 5 November 2014

Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.

scientific article published on May 2009

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

scientific article (publication date: July 2001)

Investigation of germline GFR alpha-1 mutations in Hirschsprung disease.

scientific article published on March 1999

Israel-France binational symposium on 'hereditary diseases, molecular diagnosis and gene therapy'

article

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

scientific article

L'essor de la génetique: quels bénéfices pour les enfants?

scientific article published on 01 January 1996

LOCALISATION OF FOCAL LESION PERMITTING PARTIAL PANCREATECTOMY IN INFANTS

scientific article published in The Lancet

La grossesse et l'enfant de mère phénylcétonurique

scientific article published on 01 May 1996

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 and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

scientific article

Le dysfonctionnement néonatal isolé du tronc cérébral

scientific article published on 01 February 1996

Le syndrome de noonan: une énigme

scientific article published on 01 July 1998

Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes

article

Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal

scientific article published in April 1992

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

scientific article published on August 2000

Long-range regulation at the SOX9 locus in development and disease

scientific article published on 26 May 2009

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

scientific article published in January 1995

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

scientific journal article

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

scientific article

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

scientific article published on 11 April 2007

Mechanical properties of the common carotid artery in Williams syndrome

scientific article published on September 2000

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

Mitochondria as novel players of the cellular RNA interference

scientific article published on September 2011

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

scientific article published in February 2006

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.

scientific article published on 29 July 2009

Molecular bases of human neurocristopathies.

scientific article

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

scientific article

Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele

scientific article published on January 1994

Molecular genetics of Hirschsprung disease: a model of multigenic neurocristopathy

scientific article published in January 2000

Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.

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, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

scientific article

Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in France

scientific article

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

scientific article published on 23 September 2015

Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience

scientific article published on 19 April 2017

Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion

scientific article published on 24 March 2014

Mutant WD-repeat protein in triple-A syndrome

scientific article (publication date: November 2000)

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

scientific article published on 15 June 2016

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

scientific article published on 12 March 2012

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 update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

scientific article published on February 2010

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

scientific article (publication date: April 2009)

Mutations in BOREALIN cause thyroid dysgenesis.

scientific article published on 26 December 2016

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

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

scientific article

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

scientific article published on 13 January 2016

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells

scientific article published on July 2008

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

scientific article

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies ⬇️

scientific article published on 6 March 2017

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

scientific article

Mutations of RET proto-oncogene in Hirschsprung disease

scientific article published in April 1994

Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4

article

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

scientific article

Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus

scientific article published on 27 January 2006

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

scientific article

Mutations of the RET-GDNF signaling pathway in Ondine's curse

scientific article

Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation

scientific article

NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.

scientific article

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

scientific article

Nasal speech in patients with 12q15 microdeletions.

scientific article

Neurofibromatosis 1: recommendations for management

scientific article published in January 2002

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 clinical and therapeutic perspectives in Currarino syndrome (study of 29 cases)

Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors

scientific article published on 01 May 2001

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

article

Noonan syndrome: relationships between genotype, growth, and growth factors

scientific article published in November 2005

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

scientific article

Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia

scientific article published on 11 June 2015

Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome

scientific article published on 01 January 1998

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

scientific article

Nuclear outsourcing of RNA interference components to human mitochondria

scientific article (publication date: 2011)

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment ⬇️

scientific article published on October 4, 2012

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

scientific article published in January 2011

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

scientific article published in January 2002

PAX2 mutations in oligomeganephronia.

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

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

scientific article

Parathyroid function and growth in 22q11.2 deletion syndrome

scientific article published on 01 May 2003

Parieto-occipital grey matter abnormalities in children with Williams syndrome

scientific article published on 27 December 2005

Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency

article by Carolina Prando et al published March 2010 in American Journal of Medical Genetics

Pathways systematically associated to Hirschsprung's disease

scientific article published on 02 December 2013

Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental "neural crest syndrome" related to a SOX10 mutation

scientific article published in October 2000

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

scientific article

Pierre Robin Sequence: A series of 117 consecutive cases

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

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

Polynesian ecology determines seasonality of biliary atresia

scientific article published in November 2011

Prenatal diagnosis of Pierre Robin Sequence: accuracy and ability to predict phenotype and functional severity

scientific article published on 15 May 2015

Prenatal diagnosis of combined methylmalonic aciduria and homocystinuria (cobalamin CblC or CblD mutant)

scientific article published on 01 May 1994

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

scientific article published in June 1993

Presentation of six cases of Stüve-Wiedemann syndrome

Prevalence of 22q11 deletion in fetuses with conotruncal cardiac defects: a 6-year prospective study

scientific article published in April 2001

Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies

scientific article published on 01 November 1998

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

scientific article published in March 1997

Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation

scientific article (publication date: 26 March 2002)

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

scientific article

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

scientific article published on 9 September 2011

RET in human development and oncogenesis

scientific article published on May 1997

RET proto-oncogene: role in kidney development and molecular pathology.

scientific article published on January 1998

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

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

scientific article published on 20 April 2016

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

scientific article published in May 1999

Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter

article

Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia-ventricular septal defect.

scientific article published on February 1998

Reply to Salviati et al.

scientific article published in September 2006

Rokitansky syndrome: clinical experience and results of sigmoid vaginoplasty in 23 young girls

scientific article published in March 2007

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

scientific article

Scalp-ear-nipple (Finlay-Marks) syndrome: a familial case with renal involvement

scientific article published on 01 August 1999

Second locus for Hirschsprung disease/Waardenburg syndrome in a large Mennonite kindred

article

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

scientific article published on 15 April 2002

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

scientific article published on June 1991

Skin elastic fibers in Williams syndrome

scientific article

Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma

scientific article published on October 2008

Sources of propionate in inborn errors of propionate metabolism

scientific article published on November 1990

Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation.

scientific article published on July 2008

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

scientific article

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

scientific article

Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation

scientific article published on February 1991

Sporadic NF1 mutation associated with a de-novo 20q11.3 deletion explains the association of unusual facies, Moyamoya vasculopathy, and developmental delay, reported by Bertoli et al. in 2009.

scientific article published in January 2013

Sporadic case of unusual facies, cerebral vascular anomalies and developmental delay

scientific article published in April 2009

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

scientific article

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

scientific article published on November 1995

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

scientific article

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.

scientific article published on 18 March 2013

TCTN3 mutations cause Mohr-Majewski syndrome

scientific article

TP63 gene mutation in ADULT syndrome

article

Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B)

scientific article published in February 2000

Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome

scientific article published in 2001

The C20orf133 gene is disrupted in a patient with Kabuki syndrome

scientific journal article

The C20orf133 gene is disrupted in a patient with Kabuki syndrome

scientific article

The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21)

scientific article

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

scientific article

The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function

scientific article

The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52.

scientific article published on October 1992

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

scientific article published on October 1, 1992

The mutation spectrum in Holt-Oram syndrome

scientific article

The use of metronidazole in management of methylmalonic and propionic acidaemias

scientific article published on 01 August 1990

TheGJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness

scientific article published on 01 August 2005

Three new cases of the Schinzel-Giedion syndrome and review of the literature

scientific article published on March 1994

Thyroid Hemiagenesis Is a Rare Variant of Thyroid Dysgenesis with a Familial Component but without Pax8 Mutations in a Cohort of 22 Cases

scientific article published on 21 April 2005

Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France.

scientific article published on July 1992

Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

scientific article published on 3 October 2016

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

scientific article published on 19 March 2015

Tricuspid atresia and conotruncal malformations in five families

scientific article published in April 1999

Two distinct mutations at a single BamHI site in phenylketonuria ⬇️

scientific article published on January 1, 1991

Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies

scientific article

Upper limb malformations in DiGeorge syndrome

Urgent needs in genetics: clinical diagnosis of acute amino acid disorders of delayed onset

scientific article published in December 1989

Vagal overactivity: a risk factor of sudden infant death syndrome?

scientific article published in January 2003

Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.

scientific article

Vascular Wall Remodeling in Patients with Supravalvular Aortic Stenosis and Williams Beuren Syndrome

Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data.

scientific article

Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development

scientific article published in August 2000

Waardenburg-Hirschsprung disease in two sisters: a possible clue to the genetics of this association?

scientific article published on August 1996

Werner mesomelic dysplasia with Hirschsprung disease

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

scientific article

X-linked hydrocephalus: clinical heterogeneity at a single gene locus.

scientific article published in July 1992

XNP mutation in a large family with Juberg-Marsidi syndrome

scientific article

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

scientific article

ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome

scientific article published on 5 March 2013

[Classification and heterogeneity of hyperphenylalaninemias linked to a phenylalanine hydroxylase deficiency]

scientific article published on 01 January 1987

[Congenital malformations in pediatric tumors]

scientific article published in January 1998

[Genetics of Hirschsprung disease]

scientific article published on 01 January 1996

[Kabuki syndrome: Update and review].

scientific article

[Mutations of the endothelin-3 gene in isolated and syndromic forms of Hirschsprung disease]

article

[Prenatal diagnosis in dermatology]

scientific article published on 01 December 1999

[Recommendations for the treatment of neurofibromatosis type 1]

scientific article published on 01 April 2002

miR-122, a paradigm for the role of microRNAs in the liver

scientific article

microRNAs in diseases: from candidate to modifier genes

scientific article published on 05 January 2010

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