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Nathalie Pallares-Ruiz

Research Profile

Physiology

Chemicals & Drugs

Procedures

Disorders

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France

Concepts & Ideas

Anatomy

Chromosomes, Human, Pair 22

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Publications

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Nathalie Pallares-Ruiz; Laurent Philibert; Bruno Dumont; Aurélie Fabre; Laurence Cuisset; Elodie Cointin; Cécile Rittore; Stéphan Soler; Isabelle Touitou
Combined mutation and rearrangement screening by quantitative PCR high-resolution melting: is it relevant for hereditary recurrent Fever genes?
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; Gwenaëlle Collod-Béroud; Christophe Béroud; Anne-Françoise Roux; Mireille Claustres
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.
Anne-Françoise Roux; Valérie Faugère; S Le Guédard; Nathalie Pallares-Ruiz; Anne Vielle; Sylvie Chambert; S Marlin; Christian Hamel; B Gilbert; Sue Malcolm; Mireille Claustres
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.

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All Publications

2010: Nathalie Pallares-Ruiz; Laurent Philibert; Bruno Dumont; Aurélie Fabre; Laurence Cuisset; Elodie Cointin; Cécile Rittore; Stéphan Soler; Isabelle Touitou
Combined mutation and rearrangement screening by quantitative PCR high-resolution melting: is it relevant for hereditary recurrent Fever genes?
PloS one 2010;5(11):e14096.
2010: 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; Gwenaëlle Collod-Béroud; Christophe Béroud; Anne-Françoise Roux; Mireille Claustres
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.
Human mutation 2010;31(1):E1021-42.
2006: Anne-Françoise Roux; Valérie Faugère; S Le Guédard; Nathalie Pallares-Ruiz; Anne Vielle; Sylvie Chambert; S Marlin; Christian Hamel; B Gilbert; Sue Malcolm; Mireille Claustres
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
Journal of medical genetics 2006;43(9):763-8.
2005: Olga L Posukh; Nathalie Pallares-Ruiz; Vera Tadinova; Ludmila P Osipova; Mireille Claustres; Anne-Françoise Roux
First molecular screening of deafness in the Altai Republic population.
BMC medical genetics 2005;6():12.
2004: Anne-Françoise Roux; Nathalie Pallares-Ruiz; Anne Vielle; Valérie Faugère; Carine Templin; Dorothée Leprevost; Françoise Artières; Geneviève Lina; Nicolas Molinari; Patricia Blanchet; Michel Mondain; Mireille Claustres
Molecular epidemiology of DFNB1 deafness in France.
BMC medical genetics 2004;5():5.
2004: Frédéric Venail; Anne-Françoise Roux; Nathalie Pallares-Ruiz; Mireille Claustres; Patricia Blanchet; Quentin Gardiner; Michel Mondain
Nonsyndromic 35 delG mutation of the connexin 26 gene associated with deafness in syndromic children: two case reports.
The Laryngoscope 2004;114(3):566-9.
2002: Nathalie Pallares-Ruiz; Patricia Blanchet; Michel Mondain; Mireille Claustres; Anne-Françoise Roux
A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?
European journal of human genetics : EJHG 2002;10(1):72-6.
2001: Nathalie Pallares-Ruiz; Patricia Blanchet; Michel Mondain; S Low-Hong; Jacques Demaille; Mireille Claustres; Anne-Françoise Roux
Evaluation of dHPLC for CX26 mutation screening in patients from southern France with sensorineural deafness.
Genetic testing 2001;5(4):339-43.
2000: Marie-Catherine Romey; Nathalie Pallares-Ruiz; A Mange; C Mettling; R Peytavi; Jacques Demaille; Mireille Claustres
A naturally occurring sequence variation that creates a YY1 element is associated with increased cystic fibrosis transmembrane conductance regulator gene expression.
The Journal of biological chemistry 2000;275(5):3561-7.
2000: Cristina Bombieri; Silvia Giorgi; S Carles; Rafael de Cid; Francesca Belpinati; C Tandoi; Nathalie Pallares-Ruiz; Conxi Lazaro; Bianca Maria Ciminelli; Marie-Catherine Romey; Teresa Casals; Fiorenza Pompei; G Gandini; Mireille Claustres; Xavier Estivill; Pier Franco Pignatti; Guido Modiano
A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals.
Human genetics 2000;106(2):172-8.
2000: Nathalie Pallares-Ruiz; S Carles; Marie Des Georges; Caroline Guittard; M Claustres; Dominique Larrey; Georges-Philippe Pageaux
Is isolated idiopathic pancreatitis associated with CFTR mutations?
Gut 2000;46(1):141.
1999: Nathalie Pallares-Ruiz; S Carles; Marie Des Georges; Caroline Guittard; Françoise Arnal; Claude Humeau; Mireille Claustres
Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with reduced sperm quality.
Human reproduction (Oxford, England) 1999;14(12):3035-40.