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1

Nonsyndromic 35 delG Mutation of the Connexin 26 Gene Associated With Deafness in Syndromic Children: Two Case Reports

Frédéric Venail, Anne-Françoise Roux, Nathalie Pallares-Ruiz, Mireille Claustres, Patricia Blanchet, Quentin Gardiner, Michel Mondain

Journal:

The Laryngoscope

Year:

2004

Language:

english

File:

PDF, 89 KB

english, 2004

2

Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains

Philippe Khau Van Kien, David Baux, Nathalie Pallares-Ruiz, Corinne Baudoin, Aurélie Plancke, Nicolas Chassaing, Patrick Collignon, Valérie Drouin-Garraud, Alain Hovnanian, Dominique Martin-Coignard,

Journal:

Year:

2010

Language:

english

File:

PDF, 487 KB

english, 2010

3

First molecular screening of deafness in the Altai Republic population

Olga Posukh, Nathalie Pallares-Ruiz, Vera Tadinova, Ludmila Osipova, Mireille Claustres, Anne-Françoise Roux

Journal:

BMC Medical Genetics

Year:

2005

Language:

english

File:

PDF, 530 KB

english, 2005

4

Molecular epidemiology of DFNB1 deafness in France

Anne-Françoise Roux, Nathalie Pallares-Ruiz, Anne Vielle, Valérie Faugère, Carine Templin, Dorothée Leprevost, Françoise Artières, Geneviève Lina, Nicolas Molinari, Patricia Blanchet, Michel Mondain,

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 579 KB

english, 2004

5

A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals

C. Bombieri, S. Giorgi, S. Carles, R. de Cid, F. Belpinati, C. Tandoi, N. Pallares-Ruiz, C. Lazaro, B.M. Ciminelli, M.-C. Romey, T. Casals, F. Pompei, G. Gandini, M. Claustres, X. Estivill, P.F. Pigna

Journal:

Year:

2000

Language:

english

File:

PDF, 73 KB

english, 2000

6

27. Is isolated idiopathic pancreatitis associated with CF mutations? Scanning the whole CFTR sequences in 11 patients reveals no causing-disease alteration

N. Pallares-Ruiz, S. Carles, M. Des Georges, C. Guittard, D. Larrey, G.P. Pageaux, M. Claustres

Journal:

The Netherlands Journal of Medicine

Year:

1999

Language:

english

File:

PDF, 16 KB

english, 1999

7

Evaluation of dHPLC for CX26 Mutation Screening in Patients from Southern France with Sensorineural Deafness

Pallares-Ruiz, Nathalie, Blanchet, Patricia, Mondain, Michel, Low-Hong, Sabine, Demaille, Jacques, Claustres, Mireille, Roux, Anne-Francoise

Journal:

Genetic Testing

Year:

2001

Language:

english

File:

PDF, 139 KB

english, 2001

8

Molecular analysis of the rhodopsin gene in southern France: identification of the first duplication responsible for retinitis pigmentosa, c.998^999ins4

Bareil, Corinne, Hamel, Christian, Pallarès-Ruiz, Nathalie, Arnaud, Bernard, Demaille, Jacques, Claustres, Mireille

Journal:

Ophthalmic Genetics

Year:

1999

Language:

english

File:

PDF, 229 KB

english, 1999

9

Is isolated idiopathic pancreatitis associated with CFTR mutations?

PALLARES-RUIZ, N

Journal:

Year:

2000

Language:

english

File:

PDF, 130 KB

english, 2000

10

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

Pallares-Ruiz, Nathalie, Blanchet, Patricia, Mondain, Michel, Claustres, Mireille, Roux, Anne-Francoise

Journal:

European Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 118 KB

english, 2002

11

Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with reduced sperm quality

Pallares-Ruiz, N.

Journal:

Human Reproduction

Year:

1999

Language:

english

File:

PDF, 76 KB

english, 1999