Search Results - "EBERMANN, I"

Characterisation of severe rod-cone dystrophy in a consanguineous family with a splice site mutation in the MERTK gene by Charbel Issa, P, Bolz, H J, Ebermann, I, Domeier, E, Holz, F G, Scholl, H P N

“…To characterise the ocular phenotype of a family segregating the splice site mutation c.2189+1G>T in the tyrosine kinase receptor gene MERTK. Five affected…”
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GPR98 mutations cause Usher syndrome type 2 in males by Ebermann, I, Wiesen, M H J, Zrenner, E, Lopez, I, Pigeon, R, Kohl, S, Löwenheim, H, Koenekoop, R K, Bolz, H J

“…Mutations in the large GPR98 gene underlie Usher syndrome type 2C (USH2C), and all patients described to date have been female. It was speculated that GPR98…”
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Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome by Ebermann, I, Elsayed, S M, Abdel-Ghaffar, T Y, Nürnberg, G, Nürnberg, P, Elsobky, E, Bolz, H J

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PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome by Ebermann, Inga, Phillips, Jennifer B, Liebau, Max C, Koenekoop, Robert K, Schermer, Bernhard, Lopez, Irma, Schäfer, Ellen, Roux, Anne-Francoise, Dafinger, Claudia, Bernd, Antje, Zrenner, Eberhart, Claustres, Mireille, Blanco, Bernardo, Nürnberg, Gudrun, Nürnberg, Peter, Ruland, Rebecca, Westerfield, Monte, Benzing, Thomas, Bolz, Hanno J

“…Usher syndrome is a genetically heterogeneous recessive disease characterized by hearing loss and retinitis pigmentosa (RP). It frequently presents with…”
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A novel gene for Usher syndrome type 2 : mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss by EBERMANN, Inga, SCHOLL, Hendrik P. N, ISSA, Peter Charbel, BECIROVIC, Elvir, LAMPRECHT, Jurgen, JURKLIES, Bernhard, MILLAN, José M, ALLER, Elena, MITTER, Diana, BOLZ, Hanno

“…Usher syndrome is an autosomal recessive condition characterized by sensorineural hearing loss, variable vestibular dysfunction, and visual impairment due to…”
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DOUBLE HOMOZYGOSITY FOR MUTATIONS OF AGL AND SCN9A MIMICKING NEURO-HEPATOPATHY SYNDROME by EBERMANN, I, ELSAYED, S. M, ABDEL-GHAFFAR, T. Y, NÜRNBERG, G, NÜRNBERG, P, ELSOBKY, E, BOLZ, H. J

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Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin by Aller, Elena, Jaijo, Teresa, van Wijk, Erwin, Ebermann, Inga, Kersten, Ferry, García-García, Gema, Voesenek, Krysta, Aparisi, María José, Hoefsloot, Lies, Cremers, Cor, Díaz-Llopis, Manuel, Pennings, Ronald, Bolz, Hanno J, Kremer, Hannie, Millán, José M

“…It has been demonstrated that mutations in deafness, autosomal recessive 31 (DFNB31), the gene encoding whirlin, is responsible for nonsyndromic hearing loss…”
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