Sökresultat - Maria Bitner‐Glindzicz

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  1. 1
    Hereditary deafness and phenotyping in humans

    Hereditary deafness and phenotyping in humans av Maria Bitner‐Glindzicz

    Publicerad 2002
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  2. 2
    Ototoxicity caused by aminoglycosides

    Ototoxicity caused by aminoglycosides av Maria Bitner‐Glindzicz, Shamima Rahman

    Publicerad 2007
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    Editorial
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  3. 3
    Prevalence of Mitochondrial 1555A→G Mutation in European Children

    Prevalence of Mitochondrial 1555A→G Mutation in European Children av Maria Bitner‐Glindzicz, Marcus Pembrey, Andrew Duncan, Jon Heron, Susan M. Ring, Amanda Hall, Shamima Rahman

    Publicerad 2009
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  4. 4
    Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion

    Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion av Orly Elpeleg, Chaya Miller, Eli Hershkovitz, Maria Bitner‐Glindzicz, Gili Bondi-Rubinstein, Shamima Rahman, Alistair T. Pagnamenta, Sharon Eshhar, Ann Saada

    Publicerad 2005
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  5. 5
    Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

    Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing av Heather B. Steele-Stallard, Polona Le Quesne Stabej, Eva Lenassi, Linda Luxon, Mireille Claustres, Anne‐Françoise Roux, Andrew R. Webster, Maria Bitner‐Glindzicz

    Publicerad 2013
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  6. 6
    Congenital hearing loss

    Congenital hearing loss av Anna M.H. Korver, Richard J. Smith, Guy Van Camp, Mark R. Schleiss, Maria Bitner‐Glindzicz, Lawrence R. Lustig, Shin‐ichi Usami, An Boudewyns

    Publicerad 2017
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  7. 7
    IsK and KvLQT1: Mutation in Either of the Two Subunits of the Slow Component of the Delayed Rectifier Potassium Channel Can Cause Jervell and Lange-Nielsen Syndrome

    IsK and KvLQT1: Mutation in Either of the Two Subunits of the Slow Component of the Delayed Rectifier Potassium Channel Can Cause Jervell and Lange-Nielsen Syndrome av Jess Tyson, Lisbeth Tranebjærg, S. Bellman, Christopher Wren, J F Taylor, Jørn Bathen, Bjørn Aslaksen, Svein Sörland, Ole Lund, S Malcolm, Marcus Pembrey, S. K. Bhattacharya, Maria Bitner‐Glindzicz

    Publicerad 1997
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  8. 8
    Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma

    Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma av A. T. Pagnamenta, Jan‐Willem Taanman, Callum Wilson, Neil E. Anderson, Rosetta Marotta, A. J. Duncan, Maria Bitner Glindzicz, Rachael W. Taylor, Adrienne Laskowski, David R. Thorburn, S. Rahman

    Publicerad 2006
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  9. 9
    STAG3 truncating variant as the cause of primary ovarian insufficiency

    STAG3 truncating variant as the cause of primary ovarian insufficiency av Polona Le Quesne Stabej, Hywel Williams, Chela James, Mehmet Tekman, Horia Stanescu, Robert Kleta, Louise Ocaka, Francesco Lescai, Helen L. Storr, Maria Bitner‐Glindzicz, Chiara Bacchelli, Gerard S. Conway

    Publicerad 2015
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  10. 10
    Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene <i>POU3F4</i>

    Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene <i>POU3F4</i> av Yvette J.M. de Kok, Silvère M. van der Maarel, Maria Bitner‐Glindzicz, I Huber, Anthony P. Monaco, S Malcolm, Marcus Pembrey, Hans‐Hilger Ropers, Frans P.M. Cremers

    Publicerad 1995
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  11. 11
    FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

    FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy av Elisa Fassone, Andrew Duncan, Jan‐Willem Taanman, Alistair T. Pagnamenta, Michael I. Sadowski, Tatjana Holand, Waseem Qasim, Paul Rutland, Sarah E. Calvo, Vamsi K. Mootha, Maria Bitner‐Glindzicz, Shamima Rahman

    Publicerad 2010
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  12. 12
    A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

    A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants av Eva Lenassi, Ajoy Vincent, Zheng Li, Zubin Saihan, Alison J. Coffey, Heather B. Steele-Stallard, Anthony T. Moore, Karen P. Steel, Linda Luxon, Elise Héon, Maria Bitner‐Glindzicz, Andrew R. Webster

    Publicerad 2015
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  13. 13
    A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease

    A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease av Andrew Duncan, Maria Bitner‐Glindzicz, Brigitte Meunier, Harry Costello, Iain P. Hargreaves, Luís C. López, Michio Hirano, Catarina M. Quinzii, Michael I. Sadowski, John Hardy, Andrew Singleton, Peter T. Clayton, Shamima Rahman

    Publicerad 2009
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  14. 14
    De Novo Uroplakin IIIa Heterozygous Mutations Cause Human Renal Adysplasia Leading to Severe Kidney Failure

    De Novo Uroplakin IIIa Heterozygous Mutations Cause Human Renal Adysplasia Leading to Severe Kidney Failure av Dagan Jenkins, Maria Bitner‐Glindzicz, Sue Malcolm, Chih‐Chi Andrew Hu, Jennifer Allison, Paul J.D. Winyard, Ambrose Gullett, David F. Thomas, Rachel Belk, Sally Feather, Tung‐Tien Sun, Adrian S. Woolf

    Publicerad 2005
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  15. 15
    The Jervell and Lange-Nielsen Syndrome

    The Jervell and Lange-Nielsen Syndrome av Peter J. Schwartz, Carla Spazzolini, Lia Crotti, Jørn Bathen, Jan Amlie, Katherine W. Timothy, M. А. Shkolnikova, Charles I. Berul, Maria Bitner‐Glindzicz, Lauri Toivonen, Minoru Horie, Eric Schulze‐Bahr, Isabelle Denjoy

    Publicerad 2006
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  16. 16
    SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20

    SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20 av Dale Bryant, Yang Liu, Sanchari Datta, Hanaa Hariri, Marian Seda, Glenn Anderson, Emma Peskett, Charalambos Demetriou, Sérgio B. Sousa, Dagan Jenkins, Peter T. Clayton, Maria Bitner‐Glindzicz, Gudrun E. Moore, W. Mike Henne, Philip Stanier

    Publicerad 2018
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  17. 17
    Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

    Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study av Polona Le Quesne Stabej, Zubin Saihan, Nell Rangesh, Heather B. Steele-Stallard, John C. Ambrose, Alison J. Coffey, Jenny Emmerson, Elene Haralambous, Yasmin Hughes, Karen P. Steel, Linda Luxon, Andrew R. Webster, Maria Bitner‐Glindzicz

    Publicerad 2011
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  18. 18
    Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children

    Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children av Lamia Mestek, Emma Clement, Wendy D. Jones, Suzanne Drury, Louise Ocaka, Andrey Gagunashvili, Polona Le Quesne Stabej, Chiara Bacchelli, Nital Jani, Shamima Rahman, Lucy Jenkins, Jane A. Hurst, Maria Bitner‐Glindzicz, Mark Peters, Philip L. Beales, Hywel Williams

    Publicerad 2018
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  19. 19
    Mutation of SALL2 causes recessive ocular coloboma in humans and mice

    Mutation of SALL2 causes recessive ocular coloboma in humans and mice av Daniel Kelberman, Lily Islam, Jörn Lakowski, Chiara Bacchelli, Estelle Chanudet, Francesco Lescai, AmitP Patel, Elia Stupka, A. Buck, Stephan Wolf, Philip L. Beales, Thomas S. Jacques, Maria Bitner‐Glindzicz, Alki Liasis, Ordan J. Lehmann, Jürgen Kohlhase, Ken K. Nischal, Jane C. Sowden

    Publicerad 2014
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  20. 20
    DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

    DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System av Manou Sommen, Isabelle Schrauwen, Geert Vandeweyer, Nele Boeckx, Jason J. Corneveaux, Jenneke van den Ende, An Boudewyns, Els De Leenheer, Sandra Janssens, Kathleen Claes, Margriet Verstreken, Nicola Strenzke, Friederike Predöhl, Wim Wuyts, Geert Mortier, Maria Bitner‐Glindzicz, Tobias Moser, Paul Coucke, Matthew J. Huentelman, Guy Van Camp

    Publicerad 2016
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