Cecile Cazeneuve: search on Z-Library

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1

Interaction of pyrin with 14.3.3 in an Isoform-specific and phosphorylation-dependent manner regulates its translocation to the nucleus

Isabelle Jéru, Stéphanie Papin, Sébastien L'Hoste, Philippe Duquesnoy, Cécile Cazeneuve, Jacques Camonis, Serge Amselem

Journal:

Arthritis & Rheumatism

Year:

2005

Language:

english

File:

PDF, 346 KB

english, 2005

2

Amyloidosis and Auto-Inflammatory Syndromes

Grateau, Gilles, Jeru, Isabelle, Rouaghe, Saad, Cazeneuve, Cecile, Ravet, Nathalie, Duquesnoy, Philippe, Cuisset, Laurence, Dode, Catherine, Delpech, Marc, Amselem, Serge

Journal:

Current Drug Targets - Inflammation & Allergy

Year:

2005

Language:

english

File:

PDF, 133 KB

english, 2005

3

Evaluation of Parental Mitochondrial Inheritance in Neonates Born after Intracytoplasmic Sperm Injection

Claude Danan, Damien Sternberg, André Van Steirteghem, Cécile Cazeneuve, Philippe Duquesnoy, Claude Besmond, Michel Goossens, Willy Lissens, Serge Amselem

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 296 KB

english, 1999

4

A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease

Claire-Marie Dhaenens, Sylvie Burnouf, Clémence Simonin, Edwige Van Brussel, Alain Duhamel, Luc Defebvre, Cécile Duru, Isabelle Vuillaume, Cécile Cazeneuve, Perrine Charles, Patrick Maison, Sabrina De

Journal:

Neurobiology of Disease

Year:

2009

Language:

english

File:

PDF, 159 KB

english, 2009

5

Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations

Mansour, Issam, Delague, Valérie, Cazeneuve, Cécile, Dodé, Catherine, Chouery, Eliane, Pêcheux, Christophe, Medlej-Hashim, Myrna, Salem, Nabiha, El Zein, Loubna, Levan-Petit, Isabelle

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 87 KB

english, 2001

6

MEFV-Gene Analysis in Armenian Patients with Familial Mediterranean Fever: Diagnostic Value and Unfavorable Renal Prognosis of the M694V Homozygous Genotype—Genetic and Therapeutic Implications

Cécile Cazeneuve, Tamara Sarkisian, Christophe Pêcheux, Michel Dervichian, Brigitte Nédelec, Philippe Reinert, Alexandre Ayvazyan, Jean-Claude Kouyoumdjian, Hasmik Ajrapetyan, Marc Delpech, Michel Goo

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 212 KB

english, 1999

7

Hemochromatosis C282Y mutation and histological fibrosis in patients with C virus chronic hepatitis

Christophe Hézode, Cécile Cazeneuve, Olivier Coué, Françoise Roudot-Thoraval, Jean-Michel Pawlotsky, Elie-Serge Zafrani, Serge Amselem, Daniel Dhumeaux

Journal:

Year:

1999

Language:

english

File:

PDF, 28 KB

english, 1999

8

Three novel sequence variations in the 5′ upstream region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: two polymorphisms and one putative molecular defect

Thierry Bienvenu, Virginie Lacronique, Michel Raymondjean, Cecile Cazeneuve, Dominique Hubert, Jean-Claude Kaplan, Cherif Beldjord

Journal:

Year:

1995

Language:

english

File:

PDF, 860 KB

english, 1995

9

Charcot-Marie-Tooth Disease Type 2A

Bombelli, Francesco, Stojkovic, Tanya, Dubourg, Odile, Echaniz-Laguna, Andoni, Tardieu, Sandrine, Larcher, Kathy, Amati-Bonneau, Patrizia, Latour, Philippe, Vignal, Odile, Cazeneuve, Cécile, Brice, Al

Journal:

Year:

2014

Language:

english

File:

PDF, 344 KB

english, 2014

10

Reply

Cecile Cazeneuve, Josué Feingold, Serge Amselem

Journal:

Arthritis & Rheumatism

Year:

2004

Language:

english

File:

PDF, 87 KB

english, 2004

11

Huntington's disease-like 2 in Brazil—Report of 4 patients

Guilherme G. Riccioppo Rodrigues, Ruth H. Walker, Alexis Brice, Cécile Cazeneuve, Odile Russaouen, Helio A.G. Teive, Renato Puppi Munhoz, Nilson Becker, Salmo Raskin, Lineu Cesar Werneck, Wilson Marqu

Journal:

Movement Disorders

Year:

2008

Language:

english

File:

PDF, 225 KB

english, 2008

12

Screening of OPTN in French familial amyotrophic lateral sclerosis

Stéphanie Millecamps, Séverine Boillée, Elodie Chabrol, William Camu, Cécile Cazeneuve, François Salachas, Pierre-François Pradat, Véronique Danel-Brunaud, Nadia Vandenberghe, Philippe Corcia, Nadine

Journal:

Neurobiology of Aging

Year:

2011

File:

PDF, 340 KB

2011

13

A noval nonsense mutation (Y849X) in the CFTR gene of a CF patient from southern Italy

Giuseppe Castaldo, Antonella Fuccio, Cécile Cazeneuve, Luigi Picci, Donatello Salvatore, Maurizio Scarpa, Michel Goossens, Francesco Salvatore

Journal:

Year:

1999

Language:

english

File:

PDF, 12 KB

english, 1999

14

MEFV gene analysis in PFAPA

Cécile Cazeneuve, David Geneviève, Serge Amselem, Véronique Hentgen, Isabelle Hau, Philippe Reinert

Journal:

The Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 67 KB

english, 2003

15

Cystic fibrosis transmembrane conductance regulator (CFTR) gene defects in patients with primary sclerosing cholangitis

Emmanuelle Girodon, Damien Sternberg, Olivier Chazouillères, Cécile Cazeneuve, Danielle Huot, Yvon Calmus, Raoul Poupon, Michel Goossens, Chantal Housset

Journal:

Journal of Hepatology

Year:

2002

Language:

english

File:

PDF, 90 KB

english, 2002

16

Mutation heterogeneity of cystic fibrosis in France: Screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide

Thierry Bienvenu, Cecile Cazeneuve, Jean-Claude Kaplan, Cherif Beldjord

Journal:

Year:

1995

Language:

english

File:

PDF, 595 KB

english, 1995

17

A new complex homozygous large rearrangement of thePINK1gene in a Sudanese family with early onset Parkinson’s disease

Cécile Cazeneuve, Channkanira Sân, Salah A. Ibrahim, Maowia M. Mukhtar, Musa M. Kheir, Eric LeGuern, Alexis Brice, Mustafa A. Salih

Journal:

Year:

2009

Language:

english

File:

PDF, 302 KB

english, 2009

18

Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis

Stéphanie Millecamps, Philippe Corcia, Cécile Cazeneuve, Séverine Boillée, Danielle Seilhean, Véronique Danel-Brunaud, Nadia Vandenberghe, Pierre-François Pradat, Nadine Le Forestier, Lucette Lacomble

Journal:

Neurobiology of Aging

Year:

2012

File:

PDF, 345 KB

2012

19

The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever

Dimitri Tchernitchko, Marie Legendre, Cécile Cazeneuve, Andrée Delahaye, Florence Niel, Serge Amselem

Journal:

Year:

2003

Language:

english

File:

PDF, 28 KB

english, 2003

20

Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C

Marion Yger, Tanya Stojkovic, Sandrine Tardieu, Thierry Maisonobe, Alexis Brice, Andoni Echaniz-Laguna, Yves Alembik, Samantha Girard, Cécile Cazeneuve, Eric LeGuern, Odile Dubourg

Journal:

Journal of the Peripheral Nervous System

Year:

2012

Language:

english

File:

PDF, 550 KB

english, 2012

21

Identification of MEFV-Independent Modifying Genetic Factors for Familial Mediterranean Fever

Cécile Cazeneuve, Hasmik Ajrapetyan, Stéphanie Papin, Françoise Roudot-Thoraval, David Geneviève, Elizaveta Mndjoyan, Marina Papazian, Ashot Sarkisian, Ara Babloyan, Brigitte Boissier, Philippe Duques

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 266 KB

english, 2000

22

Screening practices for mutations in the CFTR gene ABCC7

Emmanuelle Girodon-Boulandet, Cécile Cazeneuve, Michel Goossens

Journal:

Year:

2000

Language:

english

File:

PDF, 438 KB

english, 2000

23

Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach

Mariani, Louise-Laure, Tesson, Christelle, Charles, Perrine, Cazeneuve, Cécile, Hahn, Valérie, Youssov, Katia, Freeman, Leorah, Grabli, David, Roze, Emmanuel, Noël, Sandrine, Peuvion, Jean-Noel, Bacho

Journal:

Year:

2016

Language:

english

File:

PDF, 374 KB

english, 2016

24

Accumulation of TDP-43 and α-actin in an amyotrophic lateral sclerosis patient with the K17IANGmutation

Danielle Seilhean, Cécile Cazeneuve, Valérie Thuriès, Odile Russaouen, Stéphanie Millecamps, François Salachas, Vincent Meininger, Eric LeGuern, Charles Duyckaerts

Journal:

Acta Neuropathologica

Year:

2009

Language:

english

File:

PDF, 794 KB

english, 2009

25

Liver iron accumulation in patients with chronic active hepatitis C: prevalence and role of hemochromatosis gene mutations and relationship with hepatic histological lesions

Christophe Hézode, Cécile Cazeneuve, Oliver Coué, Francçoise Roudot-Thoraval, Isabelle Lonjon, Anne Bastie, Christophe Duvoux, Jean-Michel Pawlotsky, Elie-Serge Zafrani, Serge Amselem, Daniel Dhumeaux

Journal:

Journal of Hepatology

Year:

1999

Language:

english

File:

PDF, 629 KB

english, 1999

26

Survival and severity in dominant cerebellar ataxias

Monin, Marie-Lorraine, Tezenas du Montcel, Sophie, Marelli, Cecilia, Cazeneuve, Cecile, Charles, Perrine, Tallaksen, Chantal, Forlani, Sylvie, Stevanin, Giovanni, Brice, Alexis, Durr, Alexandra

Journal:

Annals of Clinical and Translational Neurology

Year:

2015

Language:

english

File:

PDF, 220 KB

english, 2015

27

CAG repeat size in Huntingtin alleles is associated with cancer prognosis

Thion, Morgane Sonia, Tézenas du Montcel, Sophie, Golmard, Jean-Louis, Vacher, Sophie, Barjhoux, Laure, Sornin, Valérie, Cazeneuve, Cécile, Bièche, Ivan, Sinilnikova, Olga, Stoppa-Lyonnet, Dominique,

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 438 KB

english, 2016

28

A liminal stage after predictive testing for Huntington disease

Gargiulo, Marcela, Tezenas du Montcel, Sophie, Jutras, Marie France, Herson, Ariane, Cazeneuve, Cecile, Durr, Alexandra

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 314 KB

english, 2017

29

Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations

Cécile Cazeneuve, Zaruhi Hovannesyan, David Geneviève, Hasmik Hayrapetyan, Stéphanie Papin, Emmanuelle Girodon-Boulandet, Brigitte Boissier, Josué Feingold, Karine Atayan, Tamara Sarkisian, Serge Amse

Journal:

Arthritis & Rheumatism

Year:

2003

Language:

english

File:

PDF, 101 KB

english, 2003

30

Identification of a Novel Missense Mutation G239R in Exon 6a of the CFTR Gene

Bienvenu, Thierry, Cazeneuve, Cecile, Fajac, Isabelle, Dusser, Daniel, Hubert, Dominique, Kaplan, Jean Claude, Beldjord, Cherif

Journal:

Year:

1995

File:

PDF, 506 KB

1995

31

Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers

Fournier, Clémence, Barbier, Mathieu, Camuzat, Agnès, Anquetil, Vincent, Lattante, Serena, Clot, Fabienne, Cazeneuve, Cécile, Rinaldi, Daisy, Couratier, Philippe, Deramecourt, Vincent, Sabatelli, Mari

Journal:

Neurobiology of Aging

Year:

2018

File:

PDF, 2.25 MB

2018

32

Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype

Rodrigues, Guilherme Riccioppo, Walker, Ruth H., Bader, Benedikt, Danek, Adrian, Brice, Alexis, Cazeneuve, Cécile, Russaouen, Odile, Lopes-Cendes, Iscia, Marques Jr., Wilson, Tumas, Vitor

Journal:

Arquivos de Neuro-Psiquiatria

Year:

2011

File:

PDF, 878 KB

2011

33

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

Mireille Claustres, Caroline Guittard, Dominique Bozon, Françoise Chevalier, Claudine Verlingue, Claude Ferec, Emanuelle Girodon, Cécile Cazeneuve, Thierry Bienvenu, Guy Lalau, Viviane Dumur, Delphine

Journal:

Year:

2000

Language:

english

File:

PDF, 532 KB

english, 2000

34

Prenatal testing in Huntington disease: after the test, choices recommence

Bouchghoul, Hanane, Clément, Stéphane-Françoise, Vauthier, Danièle, Cazeneuve, Cécile, Noel, Sandrine, Dommergues, Marc, Héron, Delphine, Nizard, Jacky, Gargiulo, Marcela, Durr, Alexandra

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 391 KB

english, 2016

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