Annick Toutain

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Publications in SciGraph latest 50 shown

  • 2019-04 Duplication of 10q24 locus: broadening the clinical and radiological spectrum in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2019-04 CUGC for Simpson-Golabi-Behmel syndrome (SGBS) in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2019-03 Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies in GENETICS IN MEDICINE
  • 2018-09 Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care in GENETICS IN MEDICINE
  • 2018-05-04 Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder in MOLECULAR PSYCHIATRY
  • 2017-12 A framework to identify contributing genes in patients with Phelan-McDermid syndrome in NPJ GENOMIC MEDICINE
  • 2017-06 Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients in GENETICS IN MEDICINE
  • 2017-06 Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes in MOLECULAR PSYCHIATRY
  • 2017-04 Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU in HUMAN GENETICS
  • 2016-08 Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-03 GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability in MOLECULAR PSYCHIATRY
  • 2016-01 Treacher Collins syndrome: a clinical and molecular study based on a large series of patients in GENETICS IN MEDICINE
  • 2015-09 Further delineation of the KAT6B molecular and phenotypic spectrum in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-02 Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome in JOURNAL OF CLINICAL IMMUNOLOGY
  • 2014-12 The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia in ORPHANET JOURNAL OF RARE DISEASES
  • 2013-08 Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-08 Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-03 Xq27 FRAXA Locus is a Strong Candidate for Dyslexia: Evidence from a Genome-Wide Scan in French Families in BEHAVIOR GENETICS
  • 2013-01 12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2012-06 Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2012-06 Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome in NATURE GENETICS
  • 2012-05 Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-04 Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2011-02-27 Mutations in the pre-replication complex cause Meier-Gorlin syndrome in NATURE GENETICS
  • 2010-03 Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-02 Identification of CACNA1A large deletions in four patients with episodic ataxia in NEUROGENETICS
  • 2009-04 Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2009-04 Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2008-02 Detection of an Intragenic Deletion Expands the Spectrum of CTSC Mutations in Papillon–Lefèvre Syndrome in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2007-10 A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2007-04 Genotype–phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the ‘association des Cytogénéticiens de langue Française’ in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2006-04 Inborn error of amino acid synthesis: Human glutamine synthetase deficiency in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2006 Glutamine synthetase deficiency in the human in HEPATIC ENCEPHALOPATHY AND NITROGEN METABOLISM
  • 2005-05 Failure to detect an 8p22–8p23.1 duplication in patients with Kabuki (Niikawa–Kuroki) syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2002-09 Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2000-07 Severe cognitive impairment in DMD: obvious clinical evidence for Dp71 isoform point mutations screening in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2000-04 Systematic analysis of X-inactivation in 19 XLMR families: extremely skewed profiles in carriers in three families in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 1999-06 Exclusion of RAI2 as the causative gene for Nance-Horan syndrome in HUMAN GENETICS
  • 1998-05 SHOX mutations in dyschondrosteosis (Leri-Weill syndrome) in NATURE GENETICS
  • 1997-01 Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31–p22.13 region in HUMAN GENETICS
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