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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.
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.
Article dans une revue
hal-02409445v1
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PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy
Christel Thauvin-Robinet
,
Martine Auclair
,
Laurence Duplomb
,
Martine Caron-Debarle
,
Magali Avila
et al.
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.
Article dans une revue
istex
hal-01165441v1
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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.
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.
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.
Article dans une revue
inserm-00663694v1
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Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
Laïla El Khattabi
,
Fabien Guimiot
,
Eva Pipiras
,
Joris Andrieux
,
Clarisse Baumann
et al.
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.
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.
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.
Article dans une revue
hal-01225503v1
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GERMLINE GAIN-OF-FUNCTION MUTATIONS of ALK DISRUPT CENTRAL NERVOUS SYSTEM DEVELOPMENT
Loic de Pontual
,
Dania Kettaneh
,
Chris Gordon
,
Myriam Oufadem
,
Nathalie Boddaert
et al.
Article dans une revue
hal-00616287v1
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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.
Article dans une revue
istex
hal-02134020v1
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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.
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.
Article dans une revue
hal-01237103v1
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