Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Nathalie Pallares-Ruiz"'
Autor:
Nathalie Pallares-Ruiz, Laurent Philibert, Bruno Dumont, Aurélie Fabre, Laurence Cuisset, Elodie Cointin, Cécile Rittore, Stéphan Soler, Isabelle Touitou
Publikováno v:
PLoS ONE, Vol 5, Iss 11, p e14096 (2010)
The recent identification of genes implicated in hereditary recurrent fevers has allowed their specific diagnosis. So far however, only punctual mutations have been identified and a significant number of patients remain with no genetic confirmation o
Externí odkaz:
https://doaj.org/article/0b4d5ae517f940c8b9ceb2ce7154d2e7
Autor:
Q. Gardiner, Frédéric Venail, Mireille Claustres, Anne-Françoise Roux, Michel Mondain, Patricia Blanchet, Nathalie Pallares-Ruiz
Publikováno v:
The Laryngoscope. 114:566-569
Objectives/Hypothesis Several genetic diseases, such as velocardiofacial syndrome Del(22q11) and Down syndrome, are associated with hearing impairment. Study Design Case reports. Methods The authors reported two cases of hearing-impaired children, on
Autor:
Michel Mondain, Patricia Blanchet, Sabine Low-Hong, Nathalie Pallares-Ruiz, Mireille Claustres, Anne-Françoise Roux, Jacques Demaille
Publikováno v:
Genetic Testing. 5:339-343
The GJB2 gene (or CX26 for connexin 26) is one of the major genes causing nonsyndromic sensorineural hearing loss (NSSNHL). More than 50 sequence variations have been identified as polymorphisms or associated with autosomal or recessive forms of deaf
Autor:
Mireille Claustres, Clément Mettling, Alain Mangé, Nathalie Pallares-Ruiz, Jacques Demaille, Régis Peytavi, Marie-Catherine Romey
Publikováno v:
Journal of Biological Chemistry. 275:3561-3567
We have identified previously a novel complex mutant allele in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in a patient affected with cystic fibrosis (CF). This allele contained a mutation in CFTR exon 11 known to cause CF (S5
Autor:
Christian Hamel, Mireille Claustres, C. Bareil, Nathalie Pallares-Ruiz, Jacques Demaille, B. Arnaud
Publikováno v:
Ophthalmic Genetics. 20:173-182
Mutations in the gene encoding rhodopsin, the visual pigment in rod photoreceptors, were shown to be the most common cause of autosomal retinitis pigmentosa (RP). In order to determine the prevalence of rhodopsin alterations in southern French popula
Autor:
Aurélie Plancke, Anne-Françoise Roux, Gwenaëlle Collod-Béroud, Dominique Martin-Coignard, Christophe Béroud, David Baux, Mireille Claustres, Patrick Collignon, Nathalie Pallares-Ruiz, Philippe Khau Van Kien, Corinne Baudoin, Valérie Drouin-Garraud, Alain Hovnanian, Nicolas Chassaing
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2010, 31 (1), pp.E1021-E1042. ⟨10.1002/humu.21131⟩
Human Mutation, 2010, 31 (1), pp.E1021-E1042. ⟨10.1002/humu.21131⟩
Human Mutation, Wiley, 2010, 31 (1), pp.E1021-E1042. ⟨10.1002/humu.21131⟩
Human Mutation, 2010, 31 (1), pp.E1021-E1042. ⟨10.1002/humu.21131⟩
In six index cases/families referred for Marfan syndrome (MFS) molecular diagnosis, we identified six novel mutations in the FBN1 gene: c.1753G>C (p.Gly585Arg), c.2456G>A (p.Gly819Glu), c.4981G>A (p.Gly1661Arg), c.5339G>A (p.Gly1780Glu), c.6418G>A (p
Autor:
Pascale Hilbert, Carla Nishimura, Patrick L. M. Huygen, Francesca Gualandi, Eva Orzan, Jaroslaw Waligora, István Sziklai, Anne Françoise Roux, Delphine Feldmann, Edward S. Cohn, Felipe Moreno, Rafał Płoski, Heidi L. Rehm, Philip M. Kelley, Doris Nekahm-Heis, Kim Cryns, Sandrine Marlin, Pierangela Castorina, Nikolaus Blin, Cor W. R. J. Cremers, Alessandro Martini, Geneviève Lina-Granade, Deirdre Lucas, Paul Van de Heyning, Hans Henrik M. Dahl, Margaret A. Kenna, Françoise Denoyelle, Desirée du Sart, Nele Hilgert, Markus Pfister, Maria Bitner-Glindzicz, Lucy Jenkins, Lies H. Hoefsloot, Armagan Incesulu, Heikki Löppönen, Iris Schrijver, Tuija Löppönen, Rikkert L. Snoeckx, Umberto Ambrosetti, Céu Correia, Małgorzata Mueller-Malesińska, Lionel Van Maldergem, O. Bendová, Graça Fialho, Ignacio del Castillo, Tímea Tóth, Nathalie Pallares-Ruiz, Jerzy Bal, Agnete Parving, Joseph B. Roberson, Wojciech Wiszniewski, Karen B. Avraham, Ewa Nowakowska-Szyrwinska, Guy Van Camp, Alessandra Murgia, Richard J.H. Smith, Agneszka Pollak, Anna Frangulov, Michel Mondain, Pavel Seeman, Andreas R. Janecke, Karen Grønskov, Zippora Brownstein, Mustafa Tekin
Publikováno v:
American Journal of Human Genetics, 77, 945-57
American Journal of Human Genetics, 77, 6, pp. 945-57
The American journal of human genetics
American Journal of Human Genetics, 77, 6, pp. 945-57
The American journal of human genetics
Contains fulltext : 47828.pdf (Publisher’s version ) (Closed access) Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene
Autor:
Carine Templin, Patricia Blanchet, Dorothée Leprevost, Nathalie Pallares-Ruiz, Françoise Artières, Geneviève Lina, Michel Mondain, Mireille Claustres, Nicolas Molinari, Anne Vielle, Anne-Françoise Roux, Valérie Faugère
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 5, Iss 1, p 5 (2004)
BMC Medical Genetics, Vol 5, Iss 1, p 5 (2004)
Background Mutations in the GJB2 gene have been established as a major cause of inherited non syndromic deafness in different populations. A high number of sequence variations have been described in the GJB2 gene and the associated pathogenic effects
Autor:
Mireille Claustres, Anne-Françoise Roux, Nathalie Pallares-Ruiz, Patricia Blanchet, Michel Mondain
Publikováno v:
European journal of human genetics : EJHG. 10(1)
Congenital profound deafness has a known genetic origin in more than 50% of all cases. The majority of the non syndromic hearing loss (NSHL) show an autosomal recessive inheritance. Mutations in the GJB2 gene (connexin 26) account for more than 50% o
Autor:
G Pageaux, D Larrey, Soukeyna Carles, M. Des Georges, Mireille Claustres, Nathalie Pallares-Ruiz, C. Guittard
Editor,—In one of two recently published studies which looked at a link between mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and idiopathic pancreatitis,1 2 Cohn et al estimated that 37% of a cohort of 27 patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e4af763a139dceec30ee6ef2d5634c5
https://europepmc.org/articles/PMC1727797/
https://europepmc.org/articles/PMC1727797/