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Structure : Identifiant HAL de la structure : 2827

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

Jean Muller , Corinne Stoetzel , Marie-Claire Vincent , Carmen C Leitch , Virginie Laurier et al.
Human Genetics, 2010, 127 (5), pp.583-93. ⟨10.1007/s00439-010-0804-9⟩
Article dans une revue inserm-00462147v1
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Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: 1 H NMR spectroscopy and genetic testing

Nadia Bouchemal , Lisa Ouss , Anaïs Brassier , Valérie Barbier , Stéphanie Gobin et al.
Orphanet Journal of Rare Diseases, 2019, 14 (1), ⟨10.1186/s13023-019-1174-6⟩
Article dans une revue hal-02409445v1

PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

Christel Thauvin-Robinet , Martine Auclair , Laurence Duplomb , Martine Caron-Debarle , Magali Avila et al.
American Journal of Human Genetics, 2013, 93 (1), pp.141-149. ⟨10.1016/j.ajhg.2013.05.019⟩
Article dans une revue hal-01064045v1
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Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review

Laïla El Khattabi , Sylvie Jaillard , Joris Andrieux , Laurent Pasquier , Laurence Perrin et al.
American Journal of Medical Genetics Part A, 2015, 167 (6), pp.1252--1261. ⟨10.1002/ajmg.a.36932⟩
Article dans une revue istex hal-01165441v1

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas

Elodie Bal , Hyun-Sook Park , Zakia Belaid-Choucair , Hulya Kayserili , Magali Naville et al.
Nature Medicine, 2017, 23 (10), pp.1226-1233. ⟨10.1038/nm.4368⟩
Article dans une revue hal-02415844v1
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The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.

Melissa Yana Frédéric , Christine Monino , Christoph Marschall , Dalil Hamroun , Laurence Faivre et al.
Human Mutation, 2009, 30 (2), pp.181-90. ⟨10.1002/humu.20794⟩
Article dans une revue inserm-00343886v1
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Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease).

Amandine Georges , Jessica Bonneau , Dominique Bonnefont-Rousselot , Jacqueline Champigneulle , Jean Rabès et al.
Orphanet Journal of Rare Diseases, 2011, 6 (1), pp.1. ⟨10.1186/1750-1172-6-1⟩
Article dans une revue inserm-00663694v1

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

Laïla El Khattabi , Fabien Guimiot , Eva Pipiras , Joris Andrieux , Clarisse Baumann et al.
European Journal of Human Genetics, 2015, 23 (8), pp.1010-1018. ⟨10.1038/ejhg.2014.230⟩
Article dans une revue hal-01116591v1
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Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

Chantal Stheneur , Gwenaëlle Collod-Béroud , Laurence Faivre , Jean François Buyck , Laurent Gouya et al.
European Journal of Human Genetics, 2009, 17 (9), pp.1121-8. ⟨10.1038/ejhg.2009.36⟩
Article dans une revue inserm-00396249v1
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Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

Nicolas Chassaing , A. Causse , A. Vigouroux , A. Delahayes , J.-L. Alessandri et al.
Clinical Genetics, 2014, 86 (4), pp.326-334. ⟨10.1111/cge.12275⟩
Article dans une revue istex hal-01064928v1
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Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management

Magali Avila , David A. Dyment , Jørn V. Sagen , Judith St-Onge , Ute Moog et al.
Clinical Genetics, 2016, 89 (4), pp.501-506. ⟨10.1111/cge.12688⟩
Article dans une revue hal-01225503v1
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Loic de Pontual , Dania Kettaneh , Chris Gordon , Myriam Oufadem , Nathalie Boddaert et al.
Human Mutation, 2011, 32 (3), pp.272. ⟨10.1002/humu.21442⟩
Article dans une revue hal-00616287v1

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

Loic de Pontual , Yves Mathieu , Christelle Golzio , Marlène Rio , Valérie Malan et al.
Human Mutation, 2009, 30 (4), pp.669-676. ⟨10.1002/humu.20935⟩
Article dans une revue istex hal-02134020v1

Neurobehavioral profile and brain imaging study of 22q13.3 deletion syndrome

Laurent Danon-Boileau , Anne Philippe , Nathalie Boddaert , Laurence Vaivre-Douret , Laurence Robel et al.
Pediatrics, 2009, pp.376-382
Article dans une revue halshs-00641289v1
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Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.

Chantal Stheneur , Gwenaëlle Collod-Béroud , Laurence Faivre , Laurent Gouya , Gilles Sultan et al.
Human Mutation, 2008, 29 (11), pp.E284-95. ⟨10.1002/humu.20871⟩
Article dans une revue istex inserm-00343940v2
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Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: A 7-year national survey

Mathilde Lefebvre , Damien Sanlaville , Nathalie Marle , Christel Thauvin-Robinet , Élodie Gautier et al.
Clinical Genetics, 2016, 89 (5), pp.630-635. ⟨10.1111/cge.12696⟩
Article dans une revue hal-01237103v1