About: Annick Toutain

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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	Toutain, Annick (1955.-....) Toutain, Annick (1955.-....)
Life Event	http://www.idref.fr/08130871X/birth
preferred label	Toutain, Annick (1955.-....)
name	Annick Toutain
dbpedia-owl:citizenship	http://sws.geonames.org/3017382/
Language	http://lexvo.org/id/iso639-3/fra
Given name	Annick
familyName	Toutain
has biographical i...tion (Deprecated)	Professeur des Universités - Praticien Hospitalier à l'université de Tours. Responsable de l'enseignement de Génétique Médicale à la faculté de Médecine de Tours. Chef du Service de Génétique du CHU de Tours. Médecin Généticien Clinicien; Coordinatrice du Centre de Référence Maladies Rares 'Anomalies du Développement'; Coordinatrice du Centre de Compétences Maladies Rares 'Déficiences Intellectuelles de causes rares'; Coordinatrice du Centre de Compétences Maladies Rares 'Surdités Génétiques'; Membre du Conseil National des Universités (section 47-sous section 04 Génétique); Membre de la Commission de Qualification du Conseil National de l'Ordre des Médecins (Génétique); Elle est rattachée au Laboratoire de recherche Génomique et pathophysiologie des troubles du neurodéveloppement et du motoneurone. Elle enseigne notamment la génétique médicale. Elle dirige régulièrement des thèses ou est membre de jurys de thèses
note	Praticien hospitalier (Tours, 2004)
gender	female
ORCID iD	0000-0002-5999-5300
is sameAs of	Toutain, Annick (1955.-....) Toutain, Annick (1955.-....) Toutain, Annick (1955.-....)
is Thesis advisor of	http://www.sudoc.fr/081307063/id Etude Phénotypique du syndrome de Simpson-Golabi-Behmel lié à des mutations de GPC3, à partir de 42 cas http://www.sudoc.fr/041956540/id http://www.sudoc.fr/145493326/id http://www.sudoc.fr/119753197/id http://www.sudoc.fr/041722310/id http://www.sudoc.fr/167589725/id http://www.sudoc.fr/170145697/id http://www.sudoc.fr/17014593X/id Etude phénotypique du syndrome d’Aarskog lié à des mutations de FGD1, à partir de 92 cas, recommandations pour le diagnostic et la prise en charge http://www.sudoc.fr/237080354/id http://www.sudoc.fr/267324081/id http://www.sudoc.fr/237082586/id http://www.sudoc.fr/248415115/id Description clinique et analyse de corrélation phénotype/génotype dans une cohorte de patients atteints d’une déficience intellectuelle liée à des mutations du gène PAK3 http://www.sudoc.fr/248414526/id
is Praeses of	http://www.sudoc.fr/267025076/id http://www.sudoc.fr/275034488/id
is Author of	The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies Clinical and Molecular Findings in 39 Patients with KBG Syndrome Caused by Deletion or Mutation of ANKRD11 Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature Author Correction : A framework to identify contributing genes in patients with Phelan-McDermid syndrome Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism Description clinique et analyse de corrélation phénotype/génotype dans une cohorte de patients atteints d’une déficience intellectuelle liée à des mutations du gène PAK3 Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance https://hal.archives-ouvertes.fr/hal-03954399#id Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs https://serval.unil.ch/notice/serval:BIB_AF8602BBCB9F#id The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia. Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals Finger creases lend a hand in Kabuki syndrome. Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature. Growth charts in Kabuki syndrome 1 Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Type 2 Caused by Mitofusin 2 Mutations Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation. Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities Pregnancy Outcome Following in Utero Exposure to Azathioprine: A French Comparative Observational Study Severe X-linked chondrodysplasia punctata in nine new female fetuses P625 : Hydrocéphalie : manifestation rare dans le spectre phénotypique du Syndrome Simpson - Golabi - Behmel, à propos d’un cas A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study. LIS1-Related Isolated Lissencephaly Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly https://serval.unil.ch/notice/serval:BIB_72FF80B33047#id ETUDE NOSOLOGIQUE ET GENETIQUE D'UNE FORME SYNDROMIQUE DE DEFICIENCE MENTALE LIEE A L'X AVEC CATARACTE CONGENITALE, LE SYNDROME DE NANCE-HORAN (DOCTORAT : SCI. VIE SANTE : GENETIQUE) Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes https://serval.unil.ch/notice/serval:BIB_08C9E1B19BCA#id https://archive-ouverte.unige.ch/unige:19747#id Clinical and molecular spectrum of renal malformations in Kabuki syndrome Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: A 7-year national survey Cohorte française de 41 patients porteurs d’une délétion 2q37 DISSEQ: Double-blind Next-Generation-Sequencing technologies (exome and gene panel) in the diagnosis of a cohort of 330 patients with an intellectual disability: concordance, discrepancies, and efficiencies. Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants https://serval.unil.ch/notice/serval:BIB_1DB03E837D37#id A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome De Novo Truncating Mutations in the kinetochore-microtubules attachment gene CHAMP1 Cause Syndromic Intellectual Disability Quality of life and mental health of adolescents and adults with Silver-Russell syndrome http://www.sudoc.fr/04183951X/id Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression Etude clinique et génétique chez 80 patients atteints de syndrome de Joubert

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