A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Robin Walters, Sébastien Jacquemont, Armand Valsesia, +89

Nature

ObesityMetabolic SyndromeChildhood ObesityDevelopmental BiologyMetabolic Disorder +7

Delineation of 15q13.3 microdeletions

Alice Masurel‐Paulet, Joris Andrieux, Patrick Callier, +31

Clinical Genetics

PsychiatryScientific Data ManagementCosmologyGeneticsSyndromic Autism +10

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

Céline Bonnet, Joris Andrieux, Mylène Béri‐Dexheimer, +28

Journal of Medical Genetics

Screening of <i>SLC26A4</i> (<i>PDS</i>) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity

Hélène Blons, D Feldmann, Vincent Duval, +20

Clinical Genetics

Identification of novel mutations in <i>WFS1</i> and genotype–phenotype correlation in Wolfram syndrome

A. Caño, Cécile Rouzier, Sophie Monnot, +8

American Journal of Medical Genetics Part A

GeneticsGenetic EpidemiologyPathologyMolecular GeneticsDisease Gene Identification +15

Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region.

Zoubida Chettouh, M. F. Croquette, B Delobel, +7

PubMed

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

A-M Molin, Joris Andrieux, David A. Koolen, +31

Journal of Medical Genetics

Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell– Silver syndrome

Florence Petit, Muriel Holder‐Espinasse, Bénédicte Duban‐Bedu, +6

Clinical Genetics

Chromosome aneuploidy in the spermatozoa of two men with globozoospermia

Fréderic Morel, Nathalie Douet‐Guilbert, A. Moerman, +5

Molecular Human Reproduction

Dual FishInfertilityFertilityCytogeneticsChromosome Aneuploidy +13

Identification and molecular characterization of a small 11q23.3 de novo duplication in a patient with Rett syndrome manifestations.

B Delobel, Valérie Delannoy, Giorgio Pini, +4

PubMed

CytogeneticsGeneticsPathologySmall 11Q23.3Molecular Genetics +14