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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

A congenital left ventricular diverticulum combined with a complex malformation syndrome

artículo científico publicado en 2003

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

artículo científico publicado en 2013

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

artículo científico publicado en 2004

A familial syndromal form of omphalocele.

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado el 1 de enero de 1991

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

artículo científico publicado en 2006

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

artículo científico publicado en 2011

A new form of mandibulofacial dysostosis with macroblepharon and macrostomia.

artículo científico publicado en 1997

A new lysosomal storage disorder resembling Morquio syndrome in sibs

artículo científico publicado en 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.

artículo científico publicado en 2004

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

artículo científico publicado en 1995

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado el 15 de enero de 1992

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

artículo científico publicado en 2015

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

artículo científico publicado en 2019

Acute lymphoblastic leukemia in the context of RASopathies

artículo científico publicado en 2016

Agenesis of the corpus callosum, camptodactyly and obesity

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2020

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

Autosomal recessive primary microcephaly due to ASPM mutations: An update

artículo científico publicado en 2017

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

artículo científico publicado en 2016

BBBG syndrome or Opitz syndrome: new family

artículo científico publicado en 1989

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

artículo científico publicado en 2006

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

artículo científico publicado en 2005

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

artículo científico publicado en 2009

Baraitser-Winter Cerebrofrontofacial Syndrome

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Bardet-biedl syndrome and brain abnormalities.

artículo científico publicado en 2007

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

artículo científico publicado en 2012

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

artículo científico publicado en 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.

artículo científico publicado en 2006

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

artículo científico publicado en 2004

Brachymorphism-onychodysplasia-dysphalangism syndrome

artículo científico publicado en 1993

Brain anomalies in encephalocraniocutaneous lipomatosis

article

Branchial arch anomalies in trisomy 18.

artículo científico publicado en 1991

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

artículo científico publicado en 2020

CEMARA an information system for rare diseases.

artículo científico

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

artículo científico publicado en 2008

CFC syndrome: a syndrome distinct from Noonan syndrome.

artículo científico publicado en 1988

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

artículo científico publicado en 2003

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

artículo científico publicado en 2017

CHARGE syndrome: an update

artículo científico publicado en 2007

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?

artículo científico publicado en 2011

Case 31-2006: a girl with severe obesity

artículo científico publicado en 2007

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

artículo científico publicado en 1998

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

artículo científico publicado en 2013

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

artículo científico publicado en 1996

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

artículo científico publicado en 1987

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

artículo científico publicado en 2009

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

artículo científico publicado en 2006

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

artículo científico publicado en 2004

Clinical and genetic heterogeneity of Seckel syndrome.

artículo científico publicado en 2002

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 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)

artículo científico publicado en 2003

Clinical utility gene card for: CHARGE syndrome

artículo científico publicado en 2011

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

artículo científico publicado en 2015

Clinical utility gene card for: Rothmund-Thomson syndrome

artículo científico publicado en 2012

Clinical utility gene card for: WAGR syndrome

artículo científico publicado en 2011

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

artículo científico publicado en 2017

Coffin-Lowry syndrome: a multicenter study.

artículo científico publicado en 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

artículo científico publicado en 1997

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

artículo científico publicado en 2005

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

artículo científico publicado el 1 de enero de 1992

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

artículo científico publicado en 2015

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

artículo científico publicado en 2020

Congenital absence of the left pericardium and diaphragmatic defect in sibs.

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2017

Craniosynostosis: A rare complication of pycnodysostosis

Cytogenetic study of bovine oocytes matured in vitro

artículo científico publicado en 1995

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

Dermatopathological aspects of restrictive dermopathy

artículo científico publicado el 1 de junio de 1992

Diabetes mellitus, mental retardation, lipodystrophy and dysmorphic traits.

artículo científico publicado en 1994

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico publicado en 2005

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

artículo científico publicado en 2005

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

artículo científico publicado en 2019

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

artículo científico publicado en 2018

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2003

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

Dysmorphology and the orbital region: a practical clinical approach

artículo científico publicado en 2004

EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder.

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico publicado en 2009

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

artículo científico publicado en 2019

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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2018

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2005

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

artículo científico publicado en 2007

Familial abdominal aortic aneurysms: Collection of 233 multiplex families

article

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

artículo científico publicado en 2014

Fetal phenotypes in otopalatodigital spectrum disorders.

artículo científico publicado en 2015

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

artículo científico publicado en 2016

From Noonan syndrome to juvenile myelomonocytic leukemia

artículo científico publicado en 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.

artículo científico publicado en 2005

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

artículo científico publicado en 2010

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).

artículo científico publicado en 2003

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

artículo científico publicado en 2020

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

artículo científico publicado en 1989

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

scientific article published on 01 November 2000

Genetic and clinical aspects of lissencephaly

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2002

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

artículo científico publicado en 2006

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

artículo científico publicado en 2002

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

artículo científico publicado en 2006

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

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2005

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 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.

artículo científico publicado en 1995

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

artículo científico publicado en 1993

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2021

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

artículo científico publicado en 2011

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

artículo científico publicado en 1990

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

artículo científico publicado el 1 de mayo de 1991

How to recognize Cowden syndrome: A novel PTEN mutation description.

artículo científico publicado en 2017

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

artículo científico publicado en 1999

Hypertrichosis, Fallot tetralogy, growth and developmental delay.

artículo científico publicado en 2004

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

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 2001

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

artículo científico publicado el 1 de junio de 1983

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

artículo científico publicado en 2019

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

artículo científico publicado en 2014

Incomplete penetrance of biallelic ALDH1A3 mutations

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Juvenile myelomonocytic leukaemia and Noonan syndrome.

artículo científico publicado en 2014

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

artículo científico publicado en 1999

LEF1 haploinsufficiency causes ectodermal dysplasia

artículo científico publicado en 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

artículo científico publicado en 1990

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

artículo científico publicado en 2004

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

artículo científico publicado en 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

artículo científico publicado en 1990

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 1993

Lumping of CFC and Baraitser-Patton Noonan-like syndromes

artículo científico publicado en 1992

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

artículo científico publicado en 2003

MECP2 is highly mutated in X-linked mental retardation

artículo científico publicado en 2001

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

artículo científico publicado en 2018

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

artículo científico publicado en 2009

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

artículo científico publicado en 2001

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

artículo científico publicado en 1990

Many roads lead to primary autosomal recessive microcephaly

artículo científico publicado en 2009

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

artículo científico publicado el 1 de enero de 1992

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

artículo científico publicado en 2010

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

Metaphyseal acroscyphodysplasia ⬇️

artículo científico publicado el 1 de mayo de 1991

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

artículo científico publicado en 1991

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

artículo científico publicado en 2005

Microcephalic osteodysplastic dwarfism (type II-like) in siblings

artículo científico publicado en 1987

Microcephaly

artículo científico publicado en 2013

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

artículo científico publicado en 1996

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

artículo científico publicado en 1997

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

artículo científico publicado en 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.

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

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

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico publicado en 2019

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

artículo científico publicado en 1993

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

artículo científico publicado en 2016

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

artículo científico publicado en 2012

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

artículo científico publicado en 2007

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

artículo científico publicado en 2006

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

artículo científico publicado en 2011

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

artículo científico publicado en 2016

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

artículo científico publicado en 2006

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2003

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 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.

artículo científico publicado en 2004

NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder

artículo científico publicado en 2018

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

artículo científico publicado en 2012

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

artículo científico publicado el 1 de septiembre de 1997

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 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?

artículo científico publicado en 2005

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

artículo científico publicado en 2004

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

artículo científico publicado en 2020

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

artículo científico publicado el 15 de noviembre de 1992

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

artículo científico publicado en 2001

Nicolaides-Baraitser syndrome: Delineation of the phenotype

artículo científico publicado en 2009

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

artículo científico publicado en 2003

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

artículo científico publicado el 1 de diciembre de 1992

Noonan and Klinefelter syndromes in a child

artículo científico publicado en 1987

Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency

artículo científico publicado en 2018

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

artículo científico publicado el 17 de octubre de 1997

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

artículo científico publicado en 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.

artículo científico publicado en 1993

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

artículo científico publicado en 1995

Orofaciodigital syndrome with cerebral dysgenesis.

artículo científico publicado en 2006

Osteocraniostenosis

artículo científico publicado en 1994

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

artículo científico publicado en 2019

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

artículo científico publicado en 2004

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

Pfeiffer syndrome type 2: further delineation and review of the literature

artículo científico publicado en 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.

artículo científico publicado en 2014

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

artículo científico

Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.

artículo científico publicado en 2011

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

artículo científico publicado en 2001

Phenotypic variability in van der Woude syndrome

artículo científico publicado en 1995

Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly

artículo científico publicado en 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?

artículo científico publicado en 2009

Pre- and postnatal phenotype of 6p25 deletions involving theFOXC1gene

article

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

artículo científico publicado en 2007

Prenatal findings in cardio-facio-cutaneous syndrome.

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico

Pseudoaminopterin syndrome

artículo científico publicado en 1993

Pseudoaminopterin syndrome

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

artículo científico publicado en 1990

Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers

artículo científico publicado en 1996

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 1992

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

artículo científico publicado en 2005

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

artículo científico publicado el 1 de enero de 1991

Roberts-SC phocomelia syndrome with exencephaly

artículo científico publicado en 1989

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado el 1 de noviembre de 1992

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

artículo científico publicado en 2020

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

artículo científico publicado en 2021

Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification

artículo científico publicado en 2005

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

artículo científico publicado en 2001

Spectrum of epilepsy in terminal 1p36 deletion syndrome

artículo científico publicado en 2007

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

artículo científico publicado en 2002

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

artículo científico publicado en 1995

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

artículo científico publicado en 2001

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

artículo científico publicado en 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?

artículo científico publicado en 1995

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

artículo científico publicado en 2012

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

artículo científico publicado en 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 ⬇️

artículo científico publicado el 1 de abril de 1992

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

artículo científico publicado en 2010

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

artículo científico publicado en 2020

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

The mutation spectrum in RECQL4 diseases

artículo científico publicado en 2008

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

artículo científico publicado en 2007

The orocraniodigital syndrome of Juberg and Hayward ⬇️

artículo científico publicado el 1 de abril de 1992

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

artículo científico publicado en 2001

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

artículo científico publicado en 2007

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

artículo científico publicado en 2005

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

artículo científico publicado en 2015

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

artículo científico publicado en 1997

Trisomy 20q. A new case and further phenotypic delineation

artículo científico publicado en 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

artículo científico publicado en 1992

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

artículo científico publicado el 1 de junio de 1988

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 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

[Diagnostic investigations for an unexplained developmental disability].

artículo científico publicado en 2012

[Genetic counseling and prenatal diagnosis]

artículo científico publicado en 1999

[RAS signalling pathway and its syndromes]

artículo científico publicado en 2007

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

artículo científico publicado en 2001

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