Publications by authors named "Dorothee Cailley"

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Albinism in a patient with mutations at both the OA1 and OCA3 loci.
Fanny Morice-Picard, Eulalie Lasseaux, Claudio Plaisant, Dorothée Cailley, Julie Bouron

Pigment Cell Melanoma Res· January 2016

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Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome.
Eric Bieth, Sanaa Eddiry, Véronique Gaston, Françoise Lorenzini, Alexandre Buffet, Dorothée Cailley

Eur J Hum Genet· February 2015

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New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity.
Marie-Laure Vuillaume, Sophie Naudion, Guillaume Banneau, Gwenaelle Diene, Audrey Cartault, Dorothée Cailley

Am J Med Genet A· August 2014

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Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.
Martine Doco-Fenzy, Camille Leroy, Anouck Schneider, Florence Petit, Marie-Ange Delrue, Dorothée Cailley

Eur J Hum Genet· April 2014

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High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.
Fanny Morice-Picard, Eulalie Lasseaux, Dorothée Cailley, Audrey Gros, Jérome Toutain

Pigment Cell Melanoma Res· January 2014

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Prenatal diagnosis using array-CGH: a French experience.
Caroline Rooryck, Jérôme Toutain, Dorothée Cailley, Julie Bouron, Jacques Horovitz

Eur J Med Genet· July 2013

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Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
Gaelle Thierry, Claire Bénéteau, Olivier Pichon, Elisabeth Flori, Bertrand Isidor, Dorothée Cailley

Am J Med Genet A· July 2012

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1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype.
Aurore Brun, Dorothée Cailley, Jérôme Toutain, Julie Bouron, Benoit Arveiler

Eur J Med Genet· February 2012

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Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?
Sébastien Moutton, Caroline Rooryck, Jérôme Toutain, Dorothée Cailley, Julie Bouron

Eur J Med Genet· February 2012

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Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.
Paquita Nurden, Najet Debili, Isabelle Coupry, Marijke Bryckaert, Ibtissam Youlyouz-Marfak, Dorothée Cailley

Blood· November 2011

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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Louise Harewood, Robin G Walters, Dorothée Cailley

Nature· August 2011

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Identification of a complex 17q rearrangement in a metanephric stromal tumor.
Jérôme Toutain, Yen VuPhi, Martine Doco-Fenzy, Fanny Morice-Picard, Sophie Stanislas, Dorothée Cailley

Cancer Genet· June 2011

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High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.
Caroline Rooryck, Fanny Morice-Picard, Eulalie Lasseaux, Dorothée Cailley, Hélène Dollfus

Hum Genet· February 2011

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Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum.
Caroline Rooryck, Noui Souakri, Dorothée Cailley, Julie Bouron, Cyril Goizet

Am J Med Genet A· August 2010

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