Gwenaelle Collod-Beroud: search on Z-Library

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1

UMD (Universal Mutation Database): A generic software to build and analyze locus-specific databases

Christophe Béroud, Gwenaëlle Collod-Béroud, Catherine Boileau, Thierry Soussi, Claudine Junien

Journal:

Year:

2000

Language:

english

File:

PDF, 234 KB

english, 2000

2

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

Gwenaëlle Collod-Béroud, Saga Le Bourdelles, Lesley Ades, Leena Ala-Kokko, Patrick Booms, Maureen Boxer, Anne Child, Paolo Comeglio, Anne De Paepe, James C. Hyland, Katerine Holman, Ilkka Kaitila, Bar

Journal:

Year:

2003

Language:

english

File:

PDF, 192 KB

english, 2003

3

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

Carine Le Goff, Clémentine Mahaut, Lauren W. Wang, Slimane Allali, Avinash Abhyankar, Sacha Jensen, Louise Zylberberg, Gwenaelle Collod-Beroud, Damien Bonnet, Yasemin Alanay, Angela F. Brady, Marie-Pi

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 783 KB

english, 2011

4

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity—application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2

Mélissa Yana Frédéric, Marine Lalande, Catherine Boileau, Dalil Hamroun, Mireille Claustres, Christophe Béroud, Gwenaëlle Collod-Béroud

Journal:

Year:

2009

Language:

english

File:

PDF, 225 KB

english, 2009

5

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

Chantal Stheneur, Gwenaëlle Collod-Béroud, Laurence Faivre, Laurent Gouya, Gilles Sultan, Jean-Marie Le Parc, Bertrand Moura, David Attias, Christine Muti, Marc Sznajder, Mireille Claustres, Claudine

Journal:

Year:

2008

Language:

english

File:

PDF, 421 KB

english, 2008

6

NewTopoisomerase Imutations are associated with resistance to camptothecin

Céline Gongora, Nadia Vezzio-Vie, Sandie Tuduri, Vincent Denis, Annick Causse, Céline Auzanneau, Gwenaëlle Collod-Beroud, Arnaud Coquelle, Philippe Pasero, Philippe Pourquier, Pierre Martineau, Maguy

Journal:

Molecular Cancer

Year:

2011

Language:

english

File:

PDF, 2.34 MB

english, 2011

7

Les dystonies primitives non liées au gène DYT1 : variabilité phénotypique et difficultés diagnostiques

Moualek, Dalila, Merrouche, Brahim, Medjber, Kahina, Collod-Beroud, Gwenaelle, Vincent, Marie Claire, Tazir, Meriem, Assami, Salima

Journal:

Revue Neurologique

Year:

2017

Language:

french

File:

PDF, 80 KB

french, 2017

8

Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year

Stheneur, Chantal, Faivre, Laurence, Collod-Béroud, Gwenaëlle, Gautier, Elodie, Binquet, Christine, Bonithon-Kopp, Claire, Claustres, Mireille, Child, Anne H, Arbustini, Eloisa, Adès, Lesley C, Franck

Journal:

Pediatric Research

Year:

2011

Language:

english

File:

PDF, 355 KB

english, 2011

9

UMD (Universal Mutation Database): 2005 update

Christophe Béroud, Dalil Hamroun, Gwenaëlle Collod-Béroud, Catherine Boileau, Thierry Soussi, Mireille Claustres

Journal:

Year:

2005

Language:

english

File:

PDF, 367 KB

english, 2005

10

Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: An open-label study

Laura Cif, Xavier Vasques, Victoria Gonzalez, Patrice Ravel, Brigitte Biolsi, Gwenaelle Collod-Beroud, Sylvie Tuffery-Giraud, Hassan Elfertit, Mireille Claustres, Philippe Coubes

Journal:

Movement Disorders

Year:

2010

Language:

english

File:

PDF, 293 KB

english, 2010

11

UMD-Predictor: a High Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

Salgado, David, Desvignes, Jean-Pierre, Rai, Ghadi, Blanchard, Arnaud, Miltgen, Morgane, Pinard, Amélie, Lévy, Nicolas, Collod-Béroud, Gwenaëlle, Béroud, Christophe

Journal:

Year:

2016

Language:

english

File:

PDF, 458 KB

english, 2016

12

Writing tremor: Should we look for a TOR1A mutation?

Aerts, Cécile, Cassim, François, Strubi-Vuillaume, Isabelle, Destée, Alain, Sablonnière, Bernard, Collod-Béroud, Gwenaëlle, Defebvre, Luc, Kreisler, Alexandre

Journal:

Journal of the Neurological Sciences

Year:

2017

Language:

english

File:

PDF, 157 KB

english, 2017

13

Marfan syndrome in the third Millennium

Collod-Béroud, Gwenaëlle, Boileau, Catherine

Journal:

European Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 173 KB

english, 2002

14

Demonstration of the Recurrence of Marfan-like Skeletal and Cardiovascular Manifestations Due to Germline Mosaicism for an FBN1 Mutation

Gwenaëlle Collod-Béroud, Marilyn Lackmy-Port-Lys, Guillaume Jondeau, Michèle Mathieu, Yves Maingourd, Monique Coulon, Michel Guillotel, Claudine Junien, Catherine Boileau

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 251 KB

english, 1999

15

First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population

Mélissa Frédéric, Estelle Lucarz, Christine Monino, Céline Saquet, Delphine Thorel, Mireille Claustres, Tuffery-Giraud Sylvie, Collod-Béroud Gwenaelle

Journal:

Movement Disorders

Year:

2007

Language:

english

File:

PDF, 203 KB

english, 2007

16

Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

Arslan-Kirchner, Mine, Arbustini, Eloisa, Boileau, Catherine, Child, Anne, Collod-Beroud, Gwenaelle, De Paepe, Anne, Epplen, Jörg, Jondeau, Guillaume, Loeys, Bart, Faivre, Laurence

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 207 KB

english, 2010

17

Heterozygous TGFBR2 mutations in Marfan syndrome

Mizuguchi, Takeshi, Collod-Beroud, Gwenaëlle, Akiyama, Takushi, Abifadel, Marianne, Harada, Naoki, Morisaki, Takayuki, Allard, Delphine, Varret, Mathilde, Claustres, Mireille, Morisaki, Hiroko

Journal:

Nature Genetics

Year:

2004

Language:

english

File:

PDF, 305 KB

english, 2004

18

314 Outcomes and prognosis in patient with TGFBR2 or FBN1 gene mutation

David Attias, Chantal Stheneur, Carine Roy, L. Faivre, Gwenaelle Collod-Beroud, Delphine Detaint, M.A. Delrue, H. Plauchu, Mireille Claustres, S. Lyonnet, A. Vahanian, Catherine Boileau, Guillaume Jon

Journal:

Archives of Cardiovascular Diseases Supplements

Year:

2010

Language:

english

File:

PDF, 83 KB

english, 2010

19

A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2

Melissa Yana Frederic, Dalil Hamroun, Laurence Faivre, Catherine Boileau, Guillaume Jondeau, Mireille Claustres, Christophe Béroud, Gwenaëlle Collod-Béroud

Journal:

Year:

2008

Language:

english

File:

PDF, 476 KB

english, 2008

20

DYT6 dystonia: Review of the literature and creation of the UMD locus-specific database (LSDB) for mutations in the THAP1 gene

Arnaud Blanchard, Vuthy Ea, Agathe Roubertie, Mélanie Martin, Coline Coquart, Mireille Claustres, Christophe Béroud, Gwenaëlle Collod-Béroud

Journal:

Year:

2011

Language:

english

File:

PDF, 258 KB

english, 2011

21

Mutation DYT1 s’exprimant par un tremblement isolé de l’écriture

Aerts, Cecile, François, Cassim, Isabelle, Vuillaume, Gwenaelle, Collod-Beroud, Luc, Defebvre, Alexandre, Kreisler

Journal:

Revue Neurologique

Year:

2017

Language:

french

File:

PDF, 77 KB

french, 2017

22

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

Stheneur, Chantal, Collod-Béroud, Gwenaëlle, Faivre, Laurence, Buyck, Jean François, Gouya, Laurent, Le Parc, Jean-Marie, Moura, Bertrand, Muti, Christine, Grandchamp, Bernard, Sultan, Gilles

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 158 KB

english, 2009

23

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

Arslan-Kirchner, Mine, Arbustini, Eloisa, Boileau, Catherine, Charron, Philippe, Child, Anne H, Collod-Beroud, Gwenaelle, De Backer, Julie, De Paepe, Anne, Dierking, Anna, Faivre, Laurence, Hoffjan, S

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 252 KB

english, 2016

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