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List of works by Alain Verloes

11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures

scientific article published on 3 September 2015

A case of Kabuki syndrome admitted for acute diarrhea and growth retardation in a French hospital in tropical area

scientific article

A congenital left ventricular diverticulum combined with a complex malformation syndrome

scientific article

A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features

scientific article published on 19 January 2013

A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone.

scientific article published on 14 December 2004

A familial syndromal form of omphalocele

scientific article published on 17 February 2011

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

scientific article

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

article

A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy

scientific article published on 30 January 2018

A hydropic fetus with translucent ribs, arthrogryposis multiplex congenita and congenital myopathy: etiological heterogeneity of A.M.C., Toriello-Bauserman type?

scientific article published on 01 January 1991

A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region

scientific article published on 17 May 2006

A long-term competent chimeric immune system in a dizygotic dichorionic twin

scientific article published on 11 July 2011

A new form of mandibulofacial dysostosis with macroblepharon and macrostomia.

scientific article published in January 1997

A new lysosomal storage disorder resembling Morquio syndrome in sibs

scientific article published on 25 January 2012

A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria

A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation.

scientific article published in June 2004

A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome.

scientific article published on February 1995

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

scientific article published on 27 July 2016

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability

scientific article published on 29 July 2016

Abnormal muscle development of the diaphragm in a fetus with 2p14-p16 duplication

scientific article published in December 2009

Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory

scientific article published on 31 October 2015

Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly

scientific article published on 01 November 2010

Acromelic frontonasal “dysplasia”: Further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome) ⬇️

scientific article published on January 15, 1992

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

scientific article

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

scientific article published on 23 May 2019

Acute lymphoblastic leukemia in the context of RASopathies

scientific article published on 4 February 2016

Agenesis of the corpus callosum, camptodactyly and obesity

scientific article published on 01 April 2000

Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance

article

Aphallia, lung agenesis and multiple defects of blastogenesis

scientific article published in January 2011

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome

scientific article published on 27 September 2020

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother

scientific article published on 11 January 2012

Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype

scientific article

Autosomal recessive primary microcephaly due to ASPM mutations: An update

scientific article

Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis

scientific article published on 8 November 2016

BBBG syndrome or Opitz syndrome: new family

scientific article published in November 1989

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

scientific article

BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families

scientific article

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

scientific article

Baraitser-Winter Cerebrofrontofacial Syndrome

scientific article published on 20 November 2015

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

scientific article

Bardet-biedl syndrome and brain abnormalities.

scientific article published in February 2007

Beckwith–Wiedemann syndrome and long QT syndrome due to familial‐balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene ⬇️

scientific article published on November 14, 2012

Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature

scientific article published on February 2009

Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum ofMED12mutations

article

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive

scientific article published in June 2006

Bony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retardation: confirmation of Dobrow syndrome and review of syndromal syngnathias

scientific article published in October 2004

Brachymorphism-onychodysplasia-dysphalangism syndrome

scientific article

Brain anomalies in encephalocraniocutaneous lipomatosis

article

Branchial arch anomalies in trisomy 18.

scientific article published in January 1991

CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

scientific article published on 03 February 2020

CEMARA an information system for rare diseases.

scientific article published on January 2010

CEMARA: a Web dynamic application within a N-tier architecture for rare diseases

scientific article published on 01 January 2008

CFC syndrome: a syndrome distinct from Noonan syndrome

scientific article published in January 1988

CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature

scientific article

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

scientific article

CHARGE syndrome: an update

scientific article

CNS malformations in Knobloch syndrome with splice mutation inCOL18A1 gene

article

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

scientific article published on 17 August 2007

Cardio-facio-cutaneous syndrome: does genotype predict phenotype?

scientific article

Case 31-2006: a girl with severe obesity

scientific article published in January 2007

Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: A review ⬇️

scientific article published on February 3, 1998

Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome

scientific article

Child with manifestations of Nager acrofacial dysostosis, and the MURCS, VACTERL, and pulmonary agenesis associations: complex defect of blastogenesis?

scientific article published in March 1996

Chromosome 22 mosaic monosomy (46,XY/45,XY,-22)

scientific article published on 01 January 1987

Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3.

scientific article

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

scientific article

Classical West "syndrome" phenotype with a subtelomeric 4p trisomy

scientific article published in October 2004

Clinical and genetic heterogeneity of Seckel syndrome.

scientific article

Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review

scientific article published on 2 April 2015

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

scientific article published on 08 September 2016

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

scientific article published on 24 July 2008

Clinical overlap of Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes: a diagnostic pitfall

scientific article published on 01 May 1995

Clinical overlap of OFD type IX with Pallister-Killian syndrome (tetrasomy 12p)

scientific article published on 01 October 2003

Clinical utility gene card for: CHARGE syndrome

scientific article published on 16 March 2011

Clinical utility gene card for: CHARGE syndrome - update 2015.

scientific article published on 18 February 2015

Clinical utility gene card for: Rothmund-Thomson syndrome

scientific article published on 28 November 2012

Clinical utility gene card for: WAGR syndrome

scientific article

Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.

scientific article published on 22 June 2017

Coffin-Lowry syndrome: a multicenter study

scientific article published in October 1988

Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes

scientific article published on April 1997

Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion

scientific article

Combined 10pter-->p11 and 18pter-->q11 trisomy in a 7-year-old child

scientific article published on 01 January 1992

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

scientific article

Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma

scientific article published on 31 July 2020

Congenital absence of the left pericardium and diaphragmatic defect in sibs

scientific article published on 26 February 2010

Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia

scientific article published on 7 August 2012

Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities

scientific article published on 22 July 2016

Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

scholarly article published in Nature Genetics

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

scientific article published on 01 May 2017

Craniosynostosis: A rare complication of pycnodysostosis

Cytogenetic study of bovine oocytes matured in vitro

scientific article published in August 1995

DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype

scientific article published on 31 December 2016

De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability

scientific article published on 28 May 2014

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

scientific article

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

scientific article

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

scientific article published on 18 January 2019

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients

scientific article published on 30 September 2018

Dermatopathological aspects of restrictive dermopathy

scientific article published on June 1, 1992

Diabetes mellitus, mental retardation, lipodystrophy and dysmorphic traits.

scientific article published in April 1994

Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents

scientific article published on 24 June 2015

Diagnostic investigations for an unexplained developmental disability

scientific article published on 14 January 2012

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

scientific article published on 19 February 2018

Diaphanospondylodysostosis (DSD): confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis

scientific article published in August 2005

Diffuse cortical atrophy in a patient with Turner syndrome and Leber hereditary optic neuropathy

scientific article published in February 2005

Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways

scientific article published on 07 November 2019

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

scientific article

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

scientific article

Distal limb deficiencies, oral involvement, and renal defect: report of a third patient and confirmation of a distinct entity

scientific article published on 01 July 2000

Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis

Down-syndrome-like acute megakaryoblastic leukemia in a patient with Cornelia de Lange syndrome

scientific article published on 7 December 2017

Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?

scientific article

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

scientific article published on 08 January 2019

Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases

scientific article published on 12 November 2013

Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation

scientific article published on 24 September 2010

Dysmorphology and the orbital region: a practical clinical approach

scientific article

Dysmorphology at a distance: results of a web-based diagnostic service ⬇️

scientific article published on July 10, 2013

EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder.

scientific article published on 6 March 2018

Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome

scientific article published in January 2010

Elements of morphology: standard terminology for the lips, mouth, and oral region

scientific article published in January 2009

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

scientific article published on 07 March 2019

Episphalosomic syndrome : a MCA syndrome ressembling Fanconi anemia, with increased baseline level of chromosome breaks but no hypersensivity to clastogens

scientific article published in April 2001

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

scientific article published on 01 July 2019

Erratum: Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother

scholarly article by Anne-Claude Tabet et al published 19 April 2012 in European Journal of Human Genetics

Erratum: Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

article

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

scholarly article published in European Journal of Human Genetics

Etretinate embryotoxicity 7 months after discontinuation of treatment

scientific article published on 01 November 1990

Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly

scientific article published on 17 April 2012

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

scientific article published on September 2009

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

scientific article published on 13 July 2018

Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines).

scientific article published on 23 April 2012

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

scientific article published on 7 December 2016

Failure of ossification of the occipital bone in mandibuloacral dysplasia type B

scientific article published on 13 July 2016

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 abdominal aortic aneurysms: Collection of 233 multiplex families

article

Faut-il envisager le dépistage néonatal de la maladie de Pompe ?

scientific article published on 24 April 2014

Fetal phenotypes in otopalatodigital spectrum disorders

scientific article published on 25 September 2015

Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases

scientific article published on 17 November 2016

From Noonan syndrome to juvenile myelomonocytic leukemia

scientific article published in June 2008

Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia

article

Further delineation of Kabuki syndrome in 48 well-defined new individuals

scientific article published in January 2005

Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients

scientific article

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

scientific article published on 19 May 2020

Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).

scientific article published on 30 September 2003

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

scientific article published on 11 April 2020

GOMBO syndrome of growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia: a possible "new" recessively inherited MCA/MR syndrome

scientific article published on January 1989

GOMBO syndrome: another "pseudorecessive" disorder due to a cryptic translocation

scientific article published on 01 November 2000

Genetic and clinical aspects of lissencephaly

scientific article

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

scientific article published on 10 March 2017

Genome Scan for Familial Abdominal Aortic Aneurysm Using Sex and Family History as Covariates Suggests Genetic Heterogeneity and Identifies Linkage to Chromosome 19q13

article published in 2004

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies

scientific article published on 11 January 2012

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis

scientific article

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

scientific article

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

scientific article

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

scientific article

Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.

scientific article published on 12 June 2010

Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome

scientific article published in June 2009

Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes

scientific article published on 01 September 1992

Golgipathies in Neurodevelopment: A New View of Old Defects

scientific article published on 01 January 2018

Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: milder variant of osteocraniostenosis or new syndrome?

scientific article published in August 2005

Growth patterns of patients with Noonan syndrome: correlation with age and genotype

scientific article

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

scientific article published on 27 November 2017

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

scientific article published on April 2012

Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: Further delineation and review

article

Heterogeneity of SPONASTRIME dysplasia: delineation of a variant form with severe mental retardation.

scientific article published on July 1995

Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types

scientific article

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects ⬇️

scientific article

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

scientific article published in November 2017

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

scientific article published in 2021

Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia

scientific article published on 25 May 2011

Holoprosencephaly and postaxial polydactyly with normal chromosomes. Another observation of a new malformation syndrome; a case report

scientific article published in July 1990

Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study ⬇️

scientific article published on May 1, 1991

How to recognize Cowden syndrome: A novel PTEN mutation description

scientific article

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes

scientific article

Hypertrichosis, Fallot tetralogy, growth and developmental delay

scientific article published in October 2004

INTU-related oral-facial-digital syndrome type VI: a confirmatory report

scientific article published on 16 February 2018

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

scientific article published on 23 February 2010

Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions

scientific article published on 07 January 2014

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

scientific article

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series

scientific article published on 28 October 2009

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

scientific article

Immunocytochemical localization of prolactin-like immunoreactivity in rat pancreatic islets ⬇️

scientific article published on June 1, 1983

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

scientific article published on 31 July 2019

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

scientific article published on 5 November 2014

Incomplete penetrance of biallelic ALDH1A3 mutations

scientific article

Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more severe clinical manifestations

scientific article published on 7 July 2015

Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation

scientific article published on 26 June 2014

Juvenile myelomonocytic leukaemia and Noonan syndrome.

scientific article published on 5 August 2014

Koraxitrachitic syndrome: a syndromic form of self-healing collodion baby with residual dappled atrophy of the derma

scientific article published in October 1999

LEF1 haploinsufficiency causes ectodermal dysplasia

scientific article published on 17 February 2020

Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs

scientific article published on September 1990

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

scientific article

Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability

scientific article published on 22 May 2013

Le point sur le syndrome de Bardet-Biedl

scientific article published on 01 January 2005

Lethal short-rib with median cleft and without polydactyly: a fourth case

scientific article published on 01 January 1990

Lissencephaly type III, stippled epiphyses and loose, thick skin: a new recessively inherited syndrome

scientific article published on February 2001

Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24

article

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome

scientific article

Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review.

scientific article

Lumping of CFC and Baraitser-Patton Noonan-like syndromes

scientific article published in March 1992

MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation

scientific article published in December 2003

MECP2 is highly mutated in X-linked mental retardation

scientific article published in April 2001

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

scientific article published on 6 March 2018

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

scientific article

Major decrease in the incidence of trisomy 21 at birth in south Belgium: mass impact of triple test?

scientific article

Male pseudohermaphroditism with persistent müllerian structures, mental retardation and Borjeson-Forssman-Lehmann-like features: a new syndrome?

scientific article published in January 1990

Many roads lead to primary autosomal recessive microcephaly

scientific article

Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome? ⬇️

scientific article published on January 1, 1992

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

scientific article

Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: Follow-up study documents progressive clinical course

Metaphyseal acroscyphodysplasia ⬇️

scientific article published on 01 May 1991

Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course

scientific article published in April 1991

Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?

scientific article

Microcephalic osteodysplastic dwarfism (type II-like) in siblings

scientific article published on August 1987

Microcephaly

scientific article

Microcephaly, macrotia, unusual mimics and mental retardation syndrome: new syndrome or variant of De Lange type 2 syndrome.

scientific article published on January 1996

Microcephaly, muscular build, rhizomelia, and cataracts: description of a possible recessive syndrome and some comments on the use of electronic databases in syndromology

scientific article published on February 1997

Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement

scientific article published on July 1990

Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations

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 and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

scientific article

Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome

scientific article published in April 2007

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome

scientific article published in June 2017

Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis

scientific article

Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia

scientific article published on 16 January 2008

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

scientific article published on 2 February 2017

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes

scientific article published on 29 October 2010

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.

scientific article published on 31 May 2019

Monosomy 11q: report of two familial cases and review of the literature

scientific article

Mosaic trisomy 15 and hemihypertrophy ⬇️

scientific article published on July 1, 2001

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 of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

scientific article

Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly

scientific article

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

scientific article published in May 2006

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

scientific article

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

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 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 TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy

scientific article

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia

article

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

scientific article (publication date: February 2003)

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

scientific article published on 10 February 2015

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

scientific article published on 24 November 2014

Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities

scientific article

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

scientific article

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

scientific article

Myhre syndrome: new reports, review, and differential diagnosis.

scientific article published in July 2003

Myhre-GOMBO syndrome: possible lumping of two "old" new syndromes

scientific article published on 01 December 1995

Möbius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome

scientific article published in June 2004

NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder

scientific article published on 01 August 2018

Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication

scientific article published on 20 July 2012

Nasu-Hakola syndrome: polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy and presenile dementia ⬇️

scientific article published on September 1, 1997

Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency

scientific article

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene

scientific article

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations ⬇️

scientific article

Neuroblastoma in a dwarfed newborn. Possible clue to the chromosomal localization of the gene for achondroplasia?

scientific article published on January 1991

Neurological outcome in WDR62 primary microcephaly

Neuropathic visceral dysmotility, brain cysts and calcifications, facial dysmorphism and developmental delay in two sibs. A new syndrome?

scientific article published on 16 June 2005

New autosomal recessive syndrome with short stature and facio-auriculo-thoracic malformations

scientific article published in August 2004

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

scientific article published on 05 November 2020

New oral-acral syndrome with partial agenesis of the maxillary bones

scientific article published on November 15, 1992

New syndrome: clavicle hypoplasia, facial dysmorphism, severe myopia, single central incisor and peripheral neuropathy

scientific article published on 01 January 2001

Nicolaides-Baraitser syndrome: Delineation of the phenotype

scientific article

Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals

scientific article

Non-radioactive assay of AFP, hCG, and uE3 from dried blood specimens: a low-cost alternative for maternal screening for trisomy 21

scientific article published on December 1, 1992

Noonan and Klinefelter syndromes in a child

scientific article published on 01 July 1987

Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency

scientific article published on 01 December 2018

Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form ⬇️

scientific article published on October 17, 1997

Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

scientific article published on 03 May 2021

Oligo-astrocytoma in LZTR1-related Noonan syndrome

scientific article published on 19 January 2019

Ondine-Hirschsprung syndrome (Haddad syndrome). Further delineation in two cases and review of the literature.

scientific article

Opitz GBBB syndrome: chromosomal evidence of an X-linked form.

scientific article published in October 1995

Orofaciodigital syndrome with cerebral dysgenesis

scientific article published in April 2006

Osteocraniostenosis

scientific article

Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants

scientific article published on 31 March 2020

PEDIA: prioritization of exome data by image analysis

scientific article published on 05 June 2019

PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

scientific article

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

scientific article published on 01 July 2008

Paternal Uniparental Disomy for Chromosome 1 Revealed by Molecular Analysis of a Patient with Pycnodysostosis ⬇️

scientific article published on April 1, 1998

Pfeiffer syndrome type 2: Further delineation and review of the literature ⬇️

scientific article published on January 23, 1998

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

article

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10.

scientific article

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes ⬇️

journal article from 'European Journal of Medical Genetics' published in 2018

Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature

scientific article published on 18 April 2013

Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome

scientific article published on 22 December 2011

Phenotypic variability at the TGF-β1 locus in Camurati-Engelmann disease

scientific article published on 09 November 2001

Phenotypic variability in van der Woude syndrome

scientific article published on 01 January 1995

Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly

scientific article published on 25 April 2017

Phénotypes psycho-comportementaux de l'enfant et de l'adolescent dans les syndromes microdélétionnels

Polyvalvular heart disease with joint hypermobility, characteristic facies, and particular skin abnormalities: new cases of "polyvalvular heart disease syndrome" or new association?

scientific article published on 20 November 2009

Pre- and postnatal phenotype of 6p25 deletions involving theFOXC1gene

article

Precocious puberty associated with partial trisomy 18q and monosomy 11q.

scientific article published in January 2007

Prenatal findings in cardio-facio-cutaneous syndrome

scientific article published on 22 October 2015

Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome

scientific article published on 23 August 2013

Private multiple congenital anomaly syndromes may result from unbalanced subtle translocations: t(2q;4p) explains the Lambotte syndrome

scientific article published on December 1997

Programs of systematic screening in neonatology. Pharmaco-economic aspects

scientific article published on 01 May 1998

Pseudoaminopterin syndrome

scientific article

Pseudoaminopterin syndrome

scientific article published on 18 July 2012

RAS signalling pathway and its syndromes

scientific article published on 5 April 2007

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

scientific article published on 28 June 2008

Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia

scientific article

Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers

scientific article

Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

scientific article

Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.

scientific article

Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation

article by Juliette Piard et al published 1 June 2018 in Brain

Report from the workshop on Pallister-Hall syndrome and related phenotypes

scientific article published on 01 October 1996

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction

scientific article published on 11 February 2020

Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature

scientific article

Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene

scientific article published on 17 June 2005

Ring chromosome 9 in a newborn male presenting with facial dysmorphia, hypospadias and skeletal abnormalities

scientific article published on 01 January 1991

Roberts-SC phocomelia syndrome with exencephaly

scientific article published on 01 January 1989

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

scientific article

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

scientific article

Schinzel-Giedion syndrome

scientific article published on 01 May 1993

Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders

scientific article published on 17 March 2009

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

scientific article published on August 2010

Severely delayed epiphyseal ossification dysplasia with normal stature

scientific article published on 01 August 2003

Should chromosome breakage studies be performed in patients with VACTERL association?

article

Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrification

scientific article published on 6 August 2014

Sjögren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD+ oxidoreductase activity

scientific article published on November 1, 1992

Smith-Magenis syndrome (SMS): clinical and behavioral characteristics in a large retrospective cohort

scientific article published on 27 December 2020

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

scientific article published on 01 June 2021

Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification

scientific article

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation

scientific article (publication date: 15 July 2001)

Spectrum of epilepsy in terminal 1p36 deletion syndrome

scientific article published on 21 November 2007

Spondylometaphyseal dysplasia, east-African type: a new form of early, severe SMD with rounded vertebrae

scientific article published in December 2002

Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands

scientific article

Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes

scientific article published in September 2001

Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review

scientific article published in October 2003

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

scientific article published on September 1996

Syndromal hypothalamic hamartoblastoma with holoprosencephaly sequence, microphthalmia, pulmonary malformations, radial hypoplasia and müllerian regression: further delineation of a new syndrome?

scientific article

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

scientific article

Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders

scientific article published on 25 April 2020

Temple-Baraitser syndrome: A rare and possibly unrecognized condition

Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

article

The Baller-Gerold syndrome ⬇️

scientific article published on April 1, 1992

The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2).

scientific article

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered

scientific article published on 20 October 2020

The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients

scientific article

The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders

scientific article published on 26 March 2008

The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement

scientific article published on 23 May 2008

The mutation spectrum in RECQL4 diseases

scientific article

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

scientific article published on 16 March 2007

The orocraniodigital syndrome of Juberg and Hayward ⬇️

scientific article published on April 1, 1992

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

scientific article

The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene

scientific article

Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins

scientific article published in May 2005

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

scientific article published on 19 March 2015

Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies

scientific article

Trisomy 20q. A new case and further phenotypic delineation

scientific article published on May 1990

Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency

scientific article published on 01 November 2010

VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling

scientific journal article

VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report

scientific article published on 14 June 2019

Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome

scientific article

Variable expression of an autosomal dominant syndrome: (BBB syndrome or G syndrome)

scientific article published on June 1, 1988

Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature

scientific article

WDR62 is associated with the spindle pole and is mutated in human microcephaly

scientific article

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells

scientific article published on October 2017

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

scientific article published on 28 March 2019

X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus

scientific article published on 01 October 1991

[Genetic counseling and prenatal diagnosis]

scientific article published on 01 May 1999

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

scientific article published on 17 July 2001

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