About: Anne-Claude Tabet

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An Entity of Type : foaf:Person, within Data Space : data.idref.fr associated with source document(s)

Attributes	Values
type	Person
sameAs	Tabet, Anne-Claude (1966-... ; médecin)
alternative label	Nouchi, Anne-Claude Nouchi Tabet, Anne-Claude
Life Event	http://www.idref.fr/15950175X/birth
preferred label	Tabet, Anne-Claude (1966-... ; médecin)
name	Anne-Claude Tabet
dbpedia-owl:citizenship	http://sws.geonames.org/3017382/
Language	http://lexvo.org/id/iso639-3/fra
Given name	Anne-Claude
familyName	Tabet
has biographical i...tion (Deprecated)	titulaire d'un doctorat en biologie moléculaire à Paris 13 en 2011 AP-HP Hôpital universitaire Robert-Debré, Université Paris Cité, DIU Cytogénétique Médicale (en 2023)
gender	female
is sameAs of	Tabet, Anne-Claude (1966-... ; médecin) Tabet, Anne-Claude (1966-... ; médecin) Tabet, Anne-Claude (1966-... ; médecin)
is Thesis advisor of	http://www.sudoc.fr/19075818X/id http://www.sudoc.fr/250328194/id http://www.sudoc.fr/281154031/id
is Author of	http://www.sudoc.fr/159501563/id http://www.sudoc.fr/041908392/id Author Correction : A framework to identify contributing genes in patients with Phelan-McDermid syndrome 2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features? 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder https://serval.unil.ch/notice/serval:BIB_7C85AAC15298#id Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder http://www.sudoc.fr/247995762/id Caractérisation par puces SNP d'anomalies chromosomiques équilibrées ou déséquilibrées impliquées dans l'autisme et le retard mental Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis A Small Nucleolar RNA Linked to Diamond-Blackfan Anemia Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants : A multicenter retrospective case series Cohorte française de 41 patients porteurs d’une délétion 2q37 The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2) Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome) Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1. 2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features? Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder Prenatal findings in 1p36 deletion syndrome: New cases and a literature review Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments. Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review https://hal.archives-ouvertes.fr/hal-02097116#id Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants A framework to identify contributing genes in patients with Phelan-McDermid syndrome Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother. Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism. Operative list of genes associated with autism and neurodevelopmental disorders based on database review 10q26 deletion syndrome: a French cohort study INTU -related oral-facial-digital syndrome type VI: a confirmatory report Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations. Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol) Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis. Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders https://orbi.uliege.be/handle/2268/230062#id Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder https://serval.unil.ch/notice/serval:BIB_4185500E191A#id
is primary topic of	http://www.idref.fr/15950175X
is Opponent of	http://www.sudoc.fr/233749241/id

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