Search Results - "Kulm, Maigi"

Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients by Verma, Anshuman, Perumalsamy, Vijayalakshmi, Shetty, Shashikant, Kulm, Maigi, Sundaresan, Periasamy

“…Leber congenital amaurosis (LCA) is the most severe form of inherited retinal visual impairment in children. So far, mutations in more than 20 genes have been…”
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Microarray-Based Mutation Analysis of 183 Spanish Families with Usher Syndrome by Jaijo, Teresa, Aller, Elena, Garcia-Garcia, Gema, Aparisi, Maria J, Bernal, Sara, Avila-Fernandez, Almudena, Barragan, Isabel, Baiget, Montserrat, Ayuso, Carmen, Antinolo, Guillermo, Diaz-LLopis, Manuel, Kulm, Maigi, Beneyto, Magdalena, Najera, Carmen, Millan, Jose M

“…The purpose of this study was to test the ability of the genotyping microarray for Usher syndrome (USH) to identify the mutations responsible for the disease…”
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Genotyping Microarray (Disease Chip) for Leber Congenital Amaurosis: Detection of Modifier Alleles by Zernant, Jana, Kulm, Maigi, Dharmaraj, Sharola, den Hollander, Anneke I, Perrault, Isabelle, Preising, Markus N, Lorenz, Birgit, Kaplan, Josseline, Cremers, Frans P. M, Maumenee, Irene, Koenekoop, Robert K, Allikmets, Rando

“…Leber congenital amaurosis (LCA) is an early-onset inherited disorder of childhood blindness characterized by visual impairment noted soon after birth…”
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Comprehensive Arrayed Primer Extension Array for the Detection of 59 Sequence Variants in 15 Conditions Prevalent Among the (Ashkenazi) Jewish Population by Schrijver, Iris, Külm, Maigi, Gardner, Phyllis I, Pergament, Eugene P, Fiddler, Morris B

“…In the Ashkenazi Jewish population, serious and lethal genetic conditions occur with relatively high frequency. A single test that encompasses the majority of…”
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Development of a genotyping microarray for Usher syndrome by Cremers, Frans P M, Kimberling, William J, Külm, Maigi, de Brouwer, Arjan P, van Wijk, Erwin, te Brinke, Heleen, Cremers, Cor W R J, Hoefsloot, Lies H, Banfi, Sandro, Simonelli, Francesca, Fleischhauer, Johannes C, Berger, Wolfgang, Kelley, Phil M, Haralambous, Elene, Bitner-Glindzicz, Maria, Webster, Andrew R, Saihan, Zubin, De Baere, Elfride, Leroy, Bart P, Silvestri, Giuliana, McKay, Gareth J, Koenekoop, Robert K, Millan, Jose M, Rosenberg, Thomas, Joensuu, Tarja, Sankila, Eeva-Marja, Weil, Dominique, Weston, Mike D, Wissinger, Bernd, Kremer, Hannie

“…Background: Usher syndrome, a combination of retinitis pigmentosa (RP) and sensorineural hearing loss with or without vestibular dysfunction, displays a high…”
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Mutational Screening of LCA Genes Emphasizing RPE65 in South Indian Cohort of Patients: e73172 by Verma, Anshuman, Perumalsamy, Vijayalakshmi, Shetty, Shashikant, Kulm, Maigi, Sundaresan, Periasamy

“…Background Leber congenital amaurosis (LCA) is the most severe form of inherited retinal visual impairment in children. So far, mutations in more than 20 genes…”
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Leber Congenital Amaurosis: First Genotyped Hungarian Patients and Report of 2 Novel Mutations in the CRB1 and CEP290 Genes by Vámos, Rita, Külm, Maigi, Szabó, Viktoria, Ahman, Aune, Lesch, Balázs, Schneider, Miklós, Varsányi, Balázs, Nagy, Zoltán Zsolt, Németh, János, Farkas, Ágnes

“…Purpose To introduce the first Hungarian patients with genetically defined Leber congenital amaurosis (LCA) and to report 2 novel mutations. Methods Seven…”
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Molecular epidemiology of Usher syndrome in Italy by Vozzi, Diego, Aaspõllu, Anu, Athanasakis, Emmanouil, Berto, Anna, Fabretto, Antonella, Licastro, Danilo, Külm, Maigi, Testa, Francesco, Trevisi, Patrizia, Vahter, Marju, Ziviello, Carmela, Martini, Alessandro, Simonelli, Francesca, Banfi, Sandro, Gasparini, Paolo

“…Usher syndrome is an autosomal recessive disorder characterized by hearing and vision loss. Usher syndrome is divided into three clinical subclasses (type 1,…”
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