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Perrine Malzac | Researchclopedia

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Perrine Malzac

69

Works

1,524

Citations

16

h-index

18

i10-index

Research Topics

Genetic Syndromes and Imprinting Health, Medicine and Society Epigenetics and DNA Methylation

Affiliations

Centre National de la Recherche Scientifique2014–2019

Hudson Institute2019–2019

Inserm1993–1997

Aix-Marseille Université2014–2016

San Raffaele University of Rome1993–1993

Top Works

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

Mireille Claustres,Caroline Guittard,et al.

2000250 citations

Prenatal Screening and Diagnostics

Genomic variations and chromosomal abnormalities

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

Philippe Jay,Claire Rougeulle,et al.

1997245 citations

Mutation Analysis of UBE3A in Angelman Syndrome Patients

Perrine Malzac,Hayley Webber,et al.

1998218 citations

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

Jean‐Benoît Courcet,Laurence Faivre,et al.

2012123 citations

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

Anne Moncla,Perrine Malzac,et al.

1999106 citations

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

Anne Moncla,Perrine Malzac,et al.

1999101 citations

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

M. Tauber,C Barbeau,et al.

200089 citations

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

C. Mignon,Perrine Malzac,et al.

199669 citations

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

M.-A. Einaudi,Pierre Le Coz,et al.

201048 citations