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Annick Toutain

Annick Toutain,Université de Tours Francois Rabelais,Genetics & Genealogy,Neuroscience,Family Medicine

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Annick Toutain

Université de Tours Francois Rabelais

Publications: 113 | Citations: 1334

Fields: Genetics & Genealogy, Neuroscience, Family Medicine

Collaborated with 863 co-authors from 1993 to 2011 | Cited by 6260 authors

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Publications (113)

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Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation (Citations: 1)

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Journal: European Journal of Medical Genetics - EUR J MED GENET , vol. 54, no. 2, pp. 144-151, 2011

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

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Journal: Nature Genetics - NAT GENET , vol. 43, no. 4, pp. 356-359, 2011

Danon disease: intrafamilial phenotypic variability related to a novel LAMP2 mutation

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Journal: Journal of Inherited Metabolic Disease - J INHERIT METAB DIS , vol. 34, no. 2, pp. 515-522, 2011

Crane–Heise syndrome: Two further case reports

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Journal: European Journal of Medical Genetics - EUR J MED GENET , vol. 54, no. 2, pp. 169-172, 2011

210 An unusual case of Mahaim fibers in hypertrophic cardiomyopathy

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Journal: Archives of Cardiovascular Diseases Supplements , vol. 3, no. 1, pp. 68-68, 2011

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Citations (1334 times by 1219 publications)

Consensus Statement on Standard of Care for Congenital Myopathies

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Journal: Journal of Child Neurology - JCN , vol. 27, no. 3, pp. 363-382, 2012

Clinical and Functional Characterization of a Patient Carrying a Compound Heterozygous Pericentrin Mutation and a Heterozygous IGF1 Receptor Mutation

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Journal: PLOS One , vol. 7, no. 5, 2012

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

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Journal: Journal of Human Genetics - J HUM GENET , vol. 57, no. 1, pp. 70-72, 2012

Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study

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Journal: PLOS One , vol. 7, no. 4, 2012

Modeling Partial Monosomy for Human Chromosome 21q11.2-q21.1 Reveals Haploinsufficient Genes Influencing Behavior and Fat Deposition

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Journal: PLOS One , vol. 7, no. 1, 2012

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Co-authors (863)

Journals (45)

Keywords (169)

Annick Toutain,Université de Tours Francois Rabelais,Genetics & Genealogy,Neuroscience,Family Medicine

Publications (113)

BibTeX | RIS | RefWorks Download

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation (Citations: 1)

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

Danon disease: intrafamilial phenotypic variability related to a novel LAMP2 mutation

Crane–Heise syndrome: Two further case reports

210 An unusual case of Mahaim fibers in hypertrophic cardiomyopathy

Citations (1334 times by 1219 publications)

Consensus Statement on Standard of Care for Congenital Myopathies

Clinical and Functional Characterization of a Patient Carrying a Compound Heterozygous Pericentrin Mutation and a Heterozygous IGF1 Receptor Mutation

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study

Modeling Partial Monosomy for Human Chromosome 21q11.2-q21.1 Reveals Haploinsufficient Genes Influencing Behavior and Fat Deposition


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Annick Toutain,Université de Tours Francois Rabelais,Genetics & Genealogy,Neuroscience,Family Medicine

Publications (113) BibTeX | RIS | RefWorks Download

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation (Citations: 1)

Publications (113)

BibTeX | RIS | RefWorks Download