Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

Mireille Claustres, Caroline Guittard, Dominique Bozon, +22

Human Mutation

The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region

Philippe Jay, Claire Rougeulle, Annick Massacrier, +10

Nature Genetics

Developmental BiologyGenetic DisorderMedicineGeneticsGenomic Mechanism +6

Mutation Analysis of UBE3A in Angelman Syndrome Patients

Perrine Malzac, Hayley Webber, A. Moncla, +7

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderMedicineGeneticsPathogenesis +4

The <i>DYRK1A</i> gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

Jean‐Benoît Courcet, Laurence Faivre, Perrine Malzac, +15

Journal of Medical Genetics

Phenotype–genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients

Anne Moncla, Perrine Malzac, Marie‐Antoinette Voelckel, +7

European Journal of Human Genetics

Mendelian DisorderGenetic DisorderMedicineGeneticsGenetic Epidemiology +4

Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling

Anne Moncla, Perrine Malzac, Marie-Odile Livet, +5

Journal of Medical Genetics

Developmental AnomalyClinical DisordersMendelian DisorderPsychiatryGenetic Disorder +13

Auxological and Endocrine Evolution of 28 Children with Prader-Willi Syndrome: Effect of GH Therapy in 14 Children

M. Tauber, C Barbeau, Béatrice Jouret, +4

Hormone Research in Paediatrics

Human GrowthGynecologyEducationEndocrine EvolutionDelta Sds +18

Clinical Heterogeneity in 16 Patientswith inv dup 15 Chromosome:Cytogenetic and Molecular Studies,Search for an Imprinting Effect

C. Mignon, Perrine Malzac, A. Moncla, +4

European Journal of Human Genetics

Parental experience following perinatal death: exploring the issues to make progress

M.-A. Einaudi, Pierre Le Coz, Perrine Malzac, +2

European Journal of Obstetrics & Gynecology and Reproductive Biology

NursingEnd-of-life CareMedicineMaternal ComplicationParental Experience +8

Exertional rhabdomyolysis and exercise intolerance revealing dystrophinopathies

Dominique Figarella‐Branger, AD Machado, Giovanni Antioco Putzu, +3

Acta Neuropathologica

KinesiologyExerciseExercise PhysiologyChronic Musculoskeletal ConditionExertional Rhabdomyolysis +5