About: Annick Toutain

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

researcher

Attributes	Values
rdf:type	Item
description	researcher (en) গবেষক (bn) investigadora (es) ഗവേഷക (ml) дослідниця (uk) հետազոտող (hy) Frans arts (nl) researcher (en-ca) researcher (en-gb) researcher (en-us) hulumtuese (sq) ricercatrice (it) investigadora (ca) investigadora (gl) investigadora (pt) investigadora (ast) médecin et généticienne française (fr)
rdfs:label	Annick Toutain (ca) Annick Toutain (en) Annick Toutain (es) Annick Toutain (fr) Annick Toutain (nl) Annick Toutain (sl) Annick Toutain (sq) Annick Toutain (ast)
skos:prefLabel	Annick Toutain (ca) Annick Toutain (en) Annick Toutain (es) Annick Toutain (fr) Annick Toutain (nl) Annick Toutain (sl) Annick Toutain (sq) Annick Toutain (ast)
name	Annick Toutain (ca) Annick Toutain (en) Annick Toutain (es) Annick Toutain (fr) Annick Toutain (nl) Annick Toutain (sl) Annick Toutain (sq) Annick Toutain (ast)
given name	wds:Q30170329-3FBAD5C8-78A5-41B5-901F-4EEDFDC6DB66
given name	Annick
instance of	wds:Q30170329-87530BA4-0280-4E1F-8BF0-CDDEC707521C
instance of	Homo sapiens
occupation	wds:Q30170329-9d012ca0-4d04-d6b1-260f-c4fd6a694793 wds:Q30170329-d8ec5d6f-4f95-8629-0d82-49448294d7c5
employer	wds:Q30170329-4927e435-4ae0-d229-21ce-63a247ed6040 wds:Q30170329-DB90A84D-CE87-4288-8495-9A8B9CFC84E1
languages spoken, written or signed	wds:Q30170329-90D41DCB-B55F-4FD2-8DA5-E514BEF925C1
sex or gender	wds:Q30170329-DCD90171-6707-4E0A-AE7C-B56332B07581
VIAF ID	wds:Q30170329-859A41E8-A855-4E0F-8A01-B47E69A9D15C
IdRef ID	wds:Q30170329-872EB8D0-674E-499A-B4B6-95F9B981EC0C
country of citizenship	wds:Q30170329-8c149528-4492-7316-6dbb-bc97554d8601
WorldCat Identities ID (superseded)	wds:Q30170329-F6AD7B30-B0C1-4E45-BC93-21D8A0719F63
VIAF ID	http://viaf.org/viaf/207065531
IdRef ID	http://www.idref.fr/08130871X/id
occupation	physician geneticist
employer	Tours University CHU Tours
languages spoken, written or signed	French
sex or gender	female organism
VIAF ID	207065531
IdRef ID	08130871X
country of citizenship	France
WorldCat Identities ID (superseded)	viaf-207065531
ORCID iD	wds:Q30170329-683e8656-482c-b6e0-d953-ff7e53fb3875
ORCID iD	https://orcid.org/0000-0002-5999-5300
ORCID iD	0000-0002-5999-5300
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q30170329
is author of	Mutations in the pericentrin (PCNT) gene cause primordial dwarfism Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. Evidence for a new X-linked mental retardation gene in Xp21-Xp22: clinical and molecular data in one family Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. Floating-Harbor Syndrome A gene for hereditary multiple exostoses maps to chromosome 19p. Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy? Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis Monosomy 6q: report on four new cases Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures Mutations in the pre-replication complex cause Meier-Gorlin syndrome Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism? A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy

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