S
Sandrine Marlin
Researcher at University of Paris
Publications - 83
Citations - 5432
Sandrine Marlin is an academic researcher from University of Paris. The author has contributed to research in topics: Medicine & Hearing loss. The author has an hindex of 31, co-authored 66 publications receiving 5017 citations. Previous affiliations of Sandrine Marlin include Pasteur Institute & Necker-Enfants Malades Hospital.
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Journal ArticleDOI
KCNQ4, a Novel Potassium Channel Expressed in Sensory Outer Hair Cells, Is Mutated in Dominant Deafness
Christian Kubisch,Björn C. Schroeder,Thomas Friedrich,Björn Lütjohann,Aziz El-Amraoui,Sandrine Marlin,Christine Petit,Thomas J. Jentsch +7 more
TL;DR: A novel member of the KCNQ branch of the K+ channel gene family, cloned, which maps to the DFNA2 locus for a form of nonsyndromic dominant deafness and abolishes the potassium currents of wild-typeKCNQ4 on which it exerts a strong dominant-negative effect.
Journal ArticleDOI
Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene
Françoise Denoyelle,Dominique Weil,Marion A. Maw,Stephen A. Wilcox,Nicholas Lench,Denise R. Allen-Powell,Amelia H. Osborn,Hans Henrik M. Dahl,Anna Middleton,Mark J. Houseman,Catherine Dodé,Sandrine Marlin,Amel Boulila-Elgaied,Mohammed Grati,Hammadi Ayadi,Saida Benarab,Pierre Bitoun,Geneviève Lina-Granade,J Godet,Mirna Mustapha,Jacques Loiselet,Elie El-Zir,Anne Aubois,Alain Joannard,Jacqueline Levilliers,Erea Noel Garabedian,Robert F. Mueller,R. J McKinlay Gardner,Christine Petit +28 more
TL;DR: Genetic counseling for prelingual deafness has been considerably impaired by the difficulty in distinguishing genetic and non genetic deafness in families presenting with a single deaf child, so the development of a simple molecular test could be designed which should be of considerable help.
Journal ArticleDOI
Review and update of mutations causing Waardenburg syndrome.
Veronique Pingault,Dorothée Ente,Florence Dastot-Le Moal,Michel Goossens,Sandrine Marlin,Nadege Bondurand +5 more
TL;DR: An update on all WS genes and set up mutation databases are provided, molecular and functional data available for each of them are summarized, and the applications in diagnostics and genetic counseling are discussed.
Journal ArticleDOI
GJB2 mutations and degree of hearing loss: a multicenter study.
Rikkert L. Snoeckx,Patrick L. M. Huygen,Delphine Feldmann,Sandrine Marlin,Françoise Denoyelle,Jaroslaw Waligora,Małgorzata Mueller-Malesińska,Agneszka Pollak,Rafał Płoski,Alessandra Murgia,Eva Orzan,Pierangela Castorina,Umberto Ambrosetti,Ewa Nowakowska-Szyrwinska,Jerzy Bal,Wojciech Wiszniewski,Andreas R. Janecke,Doris Nekahm-Heis,Pavel Seeman,O. Bendová,Margaret A. Kenna,Anna Frangulov,Heidi L. Rehm,Mustafa Tekin,Armagan Incesulu,Hans Henrik M. Dahl,Desirée du Sart,Lucy Jenkins,Deirdre Lucas,Maria Bitner-Glindzicz,Karen B. Avraham,Zippora Brownstein,Ignacio del Castillo,Felipe Moreno,Nikolaus Blin,Markus Pfister,István Sziklai,Tímea Tóth,Philip M. Kelley,Edward S. Cohn,Lionel Van Maldergem,Pascale Hilbert,Anne Françoise Roux,Michel Mondain,Lies H. Hoefsloot,Cor W. R. J. Cremers,Tuija Löppönen,Heikki Löppönen,Agnete Parving,Karen Grønskov,Iris Schrijver,Joseph B. Roberson,Francesca Gualandi,Alessandro Martini,Geneviève Lina-Granade,Nathalie Pallares-Ruiz,Céu Correia,Graça Fialho,Kim Cryns,Nele Hilgert,Paul Van de Heyning,Carla Nishimura,Richard J.H. Smith,Guy Van Camp +63 more
TL;DR: The association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations was assessed and two genotypes had significantly more-severe HI than that of 35delG homozygotes.
Journal ArticleDOI
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.
Françoise Denoyelle,Sandrine Marlin,Dominique Weil,Lucien Moatti,Pierre Chauvin,Erea-Noel Garabedian,Christine Petit +6 more
TL;DR: The characteristic audiometric and radiological features of DFNB1 should be the reference used to guide the investigation, by CX26 molecular diagnostic tests, of deaf children with a compatible phenotype.