Perrine Malzac: search on Z-Library

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1

Les techniques de séquençage de nouvelle génération

Malzac, Perrine

Journal:

Year:

2016

Language:

french

File:

PDF, 684 KB

french, 2016

2

Cortical myoclonus in angelman syndrome

Dr. Renzo Guerrini, Paolo Bonanni, Timothy M. de Lorey, José M. Serratosa, Anne Moncla, Perrine Malzac, Charlotte Dravet, Marie Odile Igvet, Michelle Bureau, Pierre Genton, Georges Suisse, Pierre Thom

Journal:

Annals of Neurology

Year:

1996

Language:

english

File:

PDF, 994 KB

english, 1996

3

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

Moncla, Anne, Malzac, Perrine, Voelckel, Marie-Antoinette, Auquier, Pascal, Girardot, Lydie, Mattei, Marie-Genevieve, Philip, Nicole, Mattei, Jean-François, Lalande, Marc, Livet, Marie-Odile

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 309 KB

english, 1999

4

Exclusion of muscle specific actinin-associated LIM protein (ALP) gene from 4q35 facioscapulohumeral muscular dystrophy (FSHD) candidate genes

Sophie Bouju, Geneviève Piétu, Martine Le Cunff, Nathalie Cros, Perrine Malzac, Jean-François Pellissier, Françoise Pons, Jean-J Léger, Charles Auffray, Claude A Dechesne

Journal:

Neuromuscular Disorders

Year:

1999

Language:

english

File:

PDF, 636 KB

english, 1999

5

Apport du conseil génétique dans la prise en charge des pathologies constitutionnelles du globule rouge

Journal:

Revue Française des Laboratoires

Year:

2000

File:

PDF, 536 KB

2000

6

Mise en place et évaluation de séances d’éthique appliquée dans un service de psychiatrie générale en France

Charre, Dorothée, Cano, Nicole, Malzac, Perrine, Habbachi, Magali, Fond, Guillaume, Boyer, Laurent

Journal:

Annales Médico-psychologiques, revue psychiatrique

Year:

2019

File:

PDF, 324 KB

2019

7

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

Jay, Philippe, Rougeulle, Claire, Massacrier, Annick, Moncla, Anne, Mattel, Marie-Geneviève, Malzac, Perrine, Roëckel, Nathalie, Taviaux, Sylvie, Bergé Lefranc, Jean-Louis, Cau, Pierre

Journal:

Nature Genetics

Year:

1997

File:

PDF, 898 KB

1997

8

Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders

Bernard, Rafaëlle, Boyer, Amandine, Nègre, Philippe, Malzac, Perrine, Latour, Philippe, Vandenberghe, Antoon, Philip, Nicole, Lévy, Nicolas

Journal:

European Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 276 KB

english, 2002

9

A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patient

Culard, Jean-Francois, Desgeorges, Marie, Romey, Marie-Catherine, Malzac, Perrine, Demaille, Jacques, Claustres, Mireille

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.76 MB

english, 1994

10

Atypical molecular findings identify limits of technical screening tests for Prader-Willi and Angelman syndrome diagnoses

Malzac, Perrine, Moncla, Anne, Pedeillier, Karinne, Van, Catherine Vo, Girardot, Lydie, Voelckel, Marie-Antoinette

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 86 KB

english, 1998

11

Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A

Bernard, Rafaëlle, Labelle, Véronique, Negre, Philippe, Tardieu, Sandrine, Azulay, Jean-Philippe, Malzac, Perrine, Mattéi, Jean-François, Leguern, Eric, Philip, Nicole, Lévy, Nicolas

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 269 KB

english, 2000

12

Case report of apoptosis in testis of four AZFc-deleted patients: increased DNA fragmentation during meiosis, but decreased apoptotic markers in post-meiotic germ cells

Streichemberger, E., Perrin, J., Saias-Magnan, J., Karsenty, G., Malzac, P., Grillo, J.-M., Mitchell, M. J., Metzler-Guillemain, C.

Journal:

Human Reproduction

Year:

2012

Language:

english

File:

PDF, 192 KB

english, 2012

13

Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family

Xavina Chauve, Chantal Missirian, Perrine Malzac, Lydie Girardot, Jean-Michel Guys, Claude Louis, Nicole Philip, Marie-Antoinette Voelckel

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 184 KB

english, 2000

14

Mutation Analysis of UBE3A in Angelman Syndrome Patients

Perrine Malzac, Hayley Webber, Anne Moncla, John M. Graham Jr, Mary Kukolich, Charles Williams, Roberta A. Pagon, Linda A. Ramsdell, Tatsuya Kishino, Joseph Wagstaff

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 273 KB

english, 1998

15

Risk Estimation of Uniparental Disomy of Chromosome 14 or 15 in a Fetus with a Parent Carrying a Non‐Homologous Robertsonian Translocation. Should We Still Perform Prenatal Diagnosis?

Moradkhani, Kamran, Cuisset, Laurence, Boisseau, Pierre, Pichon, Olivier, Lebrun, Marine, Hamdi‐Rozé, Houda, Maurin, Marie‐Laure, Gruchy, Nicolas, Manca‐Pellissier, Marie‐Christine, Malzac, Perrine, B

Journal:

Prenatal Diagnosis

Year:

2019

File:

PDF, 278 KB

2019

16

Chromosomal localization of the human and mouse histidine decarboxylase genes by in situ hybridization. Exclusion of the HDC gene from the Prader-Willi syndrome region

Perrine Malzac,Marie-Geneviève Mattei,Jean Thibault,Gilles Bruneau

Journal:

Year:

1996

Language:

english

File:

PDF, 24 KB

english, 1996

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