Search Results - Bitner-Glindzicz, Maria

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  1. 1
    Book review

    Book review by Bitner-Glindzicz, Maria

    Published 2015
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  2. 2
    Ototoxicity caused by aminoglycosides

    Ototoxicity caused by aminoglycosides by Bitner-Glindzicz, Maria, Rahman, Shamima

    Published 2007
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  3. 3
    EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus

    EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus by Hoefsloot, Lies H, Roux, Anne-Françoise, Bitner-Glindzicz, Maria

    Published 2013
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  4. 4
    Gentamicin, genetic variation and deafness in preterm children

    Gentamicin, genetic variation and deafness in preterm children by Bitner-Glindzicz, Maria, Rahman, Shamima, Chant, Kathy, Marlow, Neil

    Published 2014
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  5. 5
    Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study

    Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study by Hall, Amanda, Pembrey, Marcus, Lutman, Mark, Steer, Colin, Bitner-Glindzicz, Maria

    Published 2012
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  6. 6
    Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts

    Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts by Landa, Priya, Differ, Ann-Marie, Rajput, Kaukab, Jenkins, Lucy, Bitner-Glindzicz, Maria

    Published 2013
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  7. 7
    Clinical utility gene card for: Wolfram syndrome

    Clinical utility gene card for: Wolfram syndrome by Moosajee, Mariya, Yu-Wai-Man, Patrick, Rouzier, Cécile, Bitner-Glindzicz, Maria, Bowman, Richard

    Published 2016
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  8. 8
    Opening the “black box” of informed consent appointments for genome sequencing: a multisite observational study

    Opening the “black box” of informed consent appointments for genome sequencing: a multisite observational study by Sanderson, Saskia C., Lewis, Celine, Patch, Christine, Hill, Melissa, Bitner-Glindzicz, Maria, Chitty, Lyn S.

    Published 2018
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  9. 9
    Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population

    Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population by Ebermann, Inga, Lopez, Irma, Bitner-Glindzicz, Maria, Brown, Carolyn, Karel Koenekoop, Robert, Jörn Bolz, Hanno

    Published 2007
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  10. 10
    Mitochondrial m.1584A 12S m(6)(2)A rRNA methylation in families with m.1555A>G associated hearing loss

    Mitochondrial m.1584A 12S m(6)(2)A rRNA methylation in families with m.1555A>G associated hearing loss by O'Sullivan, Mary, Rutland, Paul, Lucas, Deirdre, Ashton, Emma, Hendricks, Sebastian, Rahman, Shamima, Bitner-Glindzicz, Maria

    Published 2015
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  11. 11
    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 by Elpeleg, Orly, Miller, Chaya, Hershkovitz, Eli, Bitner-Glindzicz, Maria, Bondi-Rubinstein, Gili, Rahman, Shamima, Pagnamenta, Alistair, Eshhar, Sharon, Saada, Ann

    Published 2005
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  12. 12
    The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss

    The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss by Linden Phillips, Luan, Bitner-Glindzicz, Maria, Lench, Nicholas, Steel, Karen P., Langford, Cordelia, Dawson, Sally J., Davis, Adrian, Simpson, Sue, Packer, Claire

    Published 2013
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  13. 13
    Hearing in 44–45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study

    Hearing in 44–45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study by Rahman, Shamima, Ecob, Russell, Costello, Harry, Sweeney, Mary G, Duncan, Andrew J, Pearce, Kerra, Strachan, David, Forge, Andrew, Davis, Adrian, Bitner-Glindzicz, Maria

    Published 2012
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  14. 14
    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 by Steele-Stallard, Heather B, Le Quesne Stabej, Polona, Lenassi, Eva, Luxon, Linda M, Claustres, Mireille, Roux, Anne-Francoise, Webster, Andrew R, Bitner-Glindzicz, Maria

    Published 2013
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  15. 15
    Congenital hearing loss

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

    Published 2017
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  16. 16
    An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes

    An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes by Le Quesne Stabej, Polona, James, Chela, Ocaka, Louise, Tekman, Mehmet, Grunewald, Stephanie, Clement, Emma, Stanescu, Horia C., Kleta, Robert, Morrogh, Deborah, Calder, Alistair, Williams, Hywel J., Bitner-Glindzicz, Maria

    Published 2017
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  17. 17
    Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases

    Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases by Al Yassin, Amina, D’Arco, Felice, Morín, Matías, Pagarkar, Waheeda, Harrop-Griffiths, Katherine, Shaida, Azhar, Fernández, Elena, Cullup, Tom, De-Souza, Bianca, Moreno-Pelayo, Miguel Angel, Bitner-Glindzicz, Maria

    Published 2019
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  18. 18
    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 by Fassone, Elisa, Duncan, Andrew J., Taanman, Jan-Willem, Pagnamenta, Alistair T., Sadowski, Michael I., Holand, Tatjana, Qasim, Waseem, Rutland, Paul, Calvo, Sarah E., Mootha, Vamsi K., Bitner-Glindzicz, Maria, Rahman, Shamima

    Published 2015
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  19. 19
    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 by Fassone, Elisa, Duncan, Andrew J., Taanman, Jan-Willem, Pagnamenta, Alistair T., Sadowski, Michael I., Holand, Tatjana, Qasim, Waseem, Rutland, Paul, Calvo, Sarah E., Mootha, Vamsi K., Bitner-Glindzicz, Maria, Rahman, Shamima

    Published 2010
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  20. 20
    STAG3 truncating variant as the cause of primary ovarian insufficiency

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

    Published 2016
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