Publications by authors named "Delphine Feldmann"

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Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss.
Zied Riahi, Hassen Hammami, Houyem Ouragini, Habib Messai, Rim Zainine, Delphine Feldmann

Gene· August 2013

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CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.
Christel Thauvin-Robinet, Anne Munck, Frédéric Huet, Alix de Becdelièvre, Clément Jimenez, Delphine Feldmann

J Med Genet· April 2013

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Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss.
Nicolás Gutiérrez Cortés, Claire Pertuiset, Elodie Dumon, Marine Börlin, Etienne Hebert-Chatelain, Delphine Feldmann

Hum Mutat· April 2012

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[Analytical quality of assays and comparison of procedures for the sweat test].
Thao Nguyen-Khoa, Jean-Pierre Borgard, Martine Marchand, Dominique Sitruk-Khalfon, Marie-Noëlle Feuillet, Delphine Feldmann

Ann Biol Clin (Paris)· March 2012

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Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.
Florence Flamein, Laure Riffault, Céline Muselet-Charlier, Julie Pernelle, Delphine Feldmann

Hum Mol Genet· February 2012

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Combined pulmonary fibrosis and emphysema syndrome associated with familial SFTPC mutation.
Vincent Cottin, Philippe Reix, Chahéra Khouatra, Françoise Thivolet-Béjui, Delphine Feldmann

Thorax· October 2011

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Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Crystel Bonnet, M'hamed Grati, Sandrine Marlin, Jacqueline Levilliers, Jean-Pierre Hardelin, Delphine Feldmann

Orphanet J Rare Dis· May 2011

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p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study.
Céline René, Damien Paulet, Emmanuelle Girodon, Catherine Costa, Guy Lalau, Delphine Feldmann

Eur J Hum Genet· January 2011

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Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct.
Laurence Jonard, Magali Niasme-Grare, Crystel Bonnet, Delphine Feldmann, Isabelle Rouillon

Int J Pediatr Otorhinolaryngol· September 2010

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Characteristics of disorders associated with genetic mutations of surfactant protein C.
Guillaume Thouvenin, Rola Abou Taam, Florence Flamein, Loïc Guillot, Muriel Le Bourgeois, Delphine Feldmann

Arch Dis Child· June 2010

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Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!
Sandrine Marlin, Delphine Feldmann, Yann Nguyen, Isabelle Rouillon, Natalie Loundon

Biochem Biophys Res Commun· April 2010

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NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome".
Loïc Guillot, Aurore Carré, Gabor Szinnai, Mireille Castanet, Elodie Tron, Delphine Feldmann

Hum Mutat· February 2010

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A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss.
Delphine Feldmann, Cédric Le Maréchal, Laurence Jonard, Patrick Thierry, Cécile Czajka

Eur J Med Genet· November 2009

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[Genetic deafness in adults].
Sandrine Marlin, Laurence Jonard, Delphine Feldmann, Nathalie Loundon, Isabelle Rouillon

Rev Prat· May 2009

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Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.
Nele Hilgert, Matthew J Huentelman, Ashley Q Thorburn, Erik Fransen, Nele Dieltjens, Delphine Feldmann

Eur J Hum Genet· April 2009

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Familial interstitial disease with I73T mutation: A mid- and long-term study.
Rola Abou Taam, Francis Jaubert, Sophie Emond, Muriel Le Bourgeois, Ralph Epaud, Delphine Feldmann

Pediatr Pulmonol· February 2009

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A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E.
Laurence Jonard, Delphine Feldmann, Christophe Parsy, Sylvie Freitag, Martine Sinico

Eur J Med Genet· June 2008

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New evidence of a mitochondrial genetic background paradox: impact of the J haplogroup on the A3243G mutation.
Denis Pierron, Christophe Rocher, Patricia Amati-Bonneau, Pascal Reynier, Marie-Laure Martin-Négrier, Delphine Feldmann

BMC Med Genet· May 2008

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Perrault syndrome: report of four new cases, review and exclusion of candidate genes.
Sandrine Marlin, Didier Lacombe, Laurence Jonard, Nicolas Leboulanger, Dominique Bonneau, Delphine Feldmann

Am J Med Genet A· March 2008

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Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.
Marianne Lévêque, Sandrine Marlin, Laurence Jonard, Vincent Procaccio, Pascal Reynier, Delphine Feldmann

Eur J Hum Genet· November 2007

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SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
Sébastien Albert, Hélène Blons, Laurence Jonard, Delphine Feldmann, Pierre Chauvin

Eur J Hum Genet· June 2006

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GJB2 mutations and degree of hearing loss: a multicenter study.
Rikkert L Snoeckx, Patrick L M Huygen, Delphine Feldmann, Sandrine Marlin, Françoise Denoyelle

Am J Hum Genet· December 2005

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The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness.
Delphine Feldmann, Françoise Denoyelle, Hélène Blons, Stanislas Lyonnet, Natalie Loundon

Am J Med Genet A· August 2005

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GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.
Sandrine Marlin, Delphine Feldmann, Hélène Blons, Natalie Loundon, Isabelle Rouillon

Arch Otolaryngol Head Neck Surg· June 2005

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Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis.
Delphine Feldmann, Françoise Denoyelle, Pierre Chauvin, Eréa-Noël Garabédian, Rémy Couderc

Am J Med Genet A· June 2004

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