M. Bitner-Glindzicz: search on Z-Library

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1

Congenital hearing loss

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.

Journal:

Nature Reviews Disease Primers

Year:

2017

Language:

english

File:

PDF, 1.52 MB

english, 2017

2

Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome

D. Kelberman, J. Tyson, D. Chandler, A. McInerney, J. Slee, D. Albert, A. Aymat, M. Botma, M. Calvert, J. Goldblatt, E. Haan, N. Laing, J. Lim, S. Malcolm, S. Singer, R. Winter, M. Bitner-Glindzicz

Journal:

Year:

2001

Language:

english

File:

PDF, 130 KB

english, 2001

3

Preferences for communication in clinic from deaf people: a cross-sectional study

Anna Middleton, Graham H. Turner, Maria Bitner-Glindzicz, Peter Lewis, Martin Richards, Angus Clarke, Dafydd Stephens

Journal:

Journal of Evaluation in Clinical Practice

Year:

2010

Language:

english

File:

PDF, 122 KB

english, 2010

4

Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK – implications for genetic testing

T Hutchin, NN Coy, H Conlon, E Telford, K Bromelow, D Blaydon, G Taylor, E Coghill, S Brown, R Trembath, XZ Liu, M Bitner-Glindzicz, R Mueller

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 163 KB

english, 2005

5

Prevalence of Mitochondrial 1555A→G Mutation in European Children

Bitner-Glindzicz, Maria, Pembrey, Marcus, Duncan, Andrew, Heron, Jon, Ring, Susan M., Hall, Amanda, Rahman, Shamima

Journal:

Boston Medical and Surgical Journal

Year:

2009

Language:

english

File:

PDF, 198 KB

english, 2009

6

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

Hall, A., Pembrey, M., Lutman, M., Steer, C., Bitner-Glindzicz, M.

Journal:

Year:

2012

Language:

english

File:

PDF, 404 KB

english, 2012

7

Update on Usher syndrome

Saihan, Zubin, Webster, Andrew R, Luxon, Linda, Bitner-Glindzicz, Maria

Journal:

Current Opinion in Neurology

Year:

2009

Language:

english

File:

PDF, 1.93 MB

english, 2009

8

Jervell and Lange-Nielsen syndrome: A Norwegian perspective

Tranebj�rg, Lisbeth, Bathen, J�rn, Tyson, Jess, Bitner-Glindzicz, Maria

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 263 KB

english, 1999

9

Kantaputra mesomelic dysplasia: A second reported family

Deborah J. Shears, Amaka Offiah, Paul Rutland, Tony Sirimanna, Maria Bitner-Glindzicz, Christine Hall

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 254 KB

english, 2004

10

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

Nanna D. Rendtorff, Marianne Lodahl, Houda Boulahbel, Ida R. Johansen, Arti Pandya, Katherine O. Welch, Virginia W. Norris, Kathleen S. Arnos, Maria Bitner-Glindzicz, Sarah B. Emery, Marilyn B. Mets,

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 1.12 MB

english, 2011

11

A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes

Faisal Idrees, Agnes Bloch-Zupan, Samantha L. Free, Daniela Vaideanu, Pamela J. Thompson, Paul Ashley, Glen Brice, Paul Rutland, Maria Bitner-Glindzicz, Peng T. Khaw, Scott Fraser, Sanjay M. Sisodiya,

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2006

Language:

english

File:

PDF, 252 KB

english, 2006

12

Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion

Jan-Willem Taanman, Shamima Rahman, Alistair T. Pagnamenta, Andrew A.M. Morris, Maria Bitner-Glindzicz, Nicole I. Wolf, James V. Leonard, Peter T. Clayton, Anthony H.V. Schapira

Journal:

Year:

2009

Language:

english

File:

PDF, 237 KB

english, 2009

13

Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene

Hee T. Kim, Mark J. Edwards, Jess Tyson, Niall P. Quinn, Maria Bitner-Glindzicz, Kailash P. Bhatia

Journal:

Movement Disorders

Year:

2007

Language:

english

File:

PDF, 85 KB

english, 2007

14

A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome

Bba De Vries, M Bitner-Glindzicz, Sjl Knight, J Tyson, Kd MacDermot, J Flint, S Malcolm, Rm Winter

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 156 KB

english, 2000

15

Haplotype analysis of the USH1D locus and genotype–phenotype correlations

X-Z Liu, SH Blanton, M Bitner-Glindzicz, A Pandya, B Landa, B MacArdle, K Rajput, S Bellman, BT Webb, X Ping, RJH Smith, WE Nance

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 397 KB

english, 2001

16

The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK

DC Blaydon, RF Mueller, TP Hutchin, BP Leroy, SS Bhattacharya, AC Bird, S Malcolm, M Bitner-Glindzicz

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 91 KB

english, 2003

17

Frameshift mutation inGJA12leading to nystagmus, spastic ataxia and CNS dys-/demyelination

Nicole I. Wolf, Maria Cundall, Paul Rutland, Elisabeth Rosser, Robert Surtees, Sarah Benton, Wui K. Chong, Sue Malcolm, Friedrich Ebinger, Maria Bitner-Glindzicz, Karen J. Woodward

Journal:

Year:

2007

Language:

english

File:

PDF, 841 KB

english, 2007

18

Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia—A new metabolic disorder

Karin Tuschl, Philippa B. Mills, Howard Parsons, Marian Malone, Darren Fowler, Maria Bitner-Glindzicz, Peter T. Clayton

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 4.65 MB

english, 2008

19

Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness

D Shears, H Conlon, T Murakami, K Fukai, R Alles, R Trembath, M Bitner-Glindzicz

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 1.94 MB

english, 2004

20

Analysis of KIT, SCF, and Initial Screening of SLUG in Patients with Piebaldism

Murakami, Tomoko, Hosomi, Naoko, Oiso, Naoki, Giovannucci-Uzielli, Maria Luisa, Aquaron, Robert, Mizoguchi, Masako, Kato, Atsushi, Ishii, Masamitsu, Bitner-Glindzicz, Maria, Barnicoat, Angela, Wilson,

Journal:

The Journal of Investigative Dermatology

Year:

2005

Language:

english

File:

PDF, 61 KB

english, 2005

21

Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830)

J. E. A. Common, M. Bitner-Glindzicz, E. A. O'Toole, M. R. Barnes, L. Jenkins, A. Forge, D. P. Kelsell

Journal:

Clinical and Experimental Dermatology

Year:

2005

Language:

english

File:

PDF, 306 KB

english, 2005

22

Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population

Y. Bajaj, T. Sirimanna, D.M. Albert, P. Qadir, L. Jenkins, M. Bitner-Glindzicz

Journal:

Clinical Otolaryngology (Blackwell)

Year:

2008

Language:

english

File:

PDF, 109 KB

english, 2008

23

Causes of deafness in British Bangladeshi children: a prevalence twice that of the UK population cannot be accounted for by consanguinity alone

Y. Bajaj, T. Sirimanna, D.M. Albert, P. Qadir, L. Jenkins, M. Cortina-Borja, M. Bitner-Glindzicz

Journal:

Clinical Otolaryngology (Blackwell)

Year:

2009

Language:

english

File:

PDF, 140 KB

english, 2009

24

10.1038/79178

Bitner-Glindzicz, Maria, Glaser, Benjamin, Lindley, Keith J., Rutland, Paul, Blaydon, Diana, Smith, Virpi V., Milla, Peter J., Hussain, Khalid, Furth-Lavi, Judith, Cosgrove, Karen E., Shepherd, Ruth M

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 542 KB

english, 2000

25

Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involvingEYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1

Rickard, Sarah, van't Hoff, William, Barnicoat, Angela, Russell-Eggitt, Isabelle, Winter, Robin, Bitner-Glindzicz, Maria, Parker, Michael

Journal:

Year:

2001

Language:

english

File:

PDF, 58 KB

english, 2001

26

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

Andrew J. Duncan, Maria Bitner-Glindzicz, Brigitte Meunier, Harry Costello, Iain P. Hargreaves, Luis C. López, Michio Hirano, Catarina M. Quinzii, Michael I. Sadowski, John Hardy, Andrew Singleton, Pe

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 487 KB

english, 2009

27

Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2

Xuezhong Liu, Dongyi Han, Jianzhong Li, Bing Han, Xiaomei Ouyang, Jing Cheng, Xu Li, Zhanguo Jin, Youqin Wang, Maria Bitner-Glindzicz, Xiangyin Kong, Heng Xu, Albena Kantardzhieva, Roland D. Eavey, Ch

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1014 KB

english, 2010

28

Mesomelia-Synostoses Syndrome Results from Deletion of SULF1 and SLCO5A1 Genes at 8q13

Bertrand Isidor, Olivier Pichon, Richard Redon, Debra Day-Salvatore, Antoine Hamel, Karolina A. Siwicka, Maria Bitner-Glindzicz, Dominique Heymann, Lena Kjellén, Cornelia Kraus, Jules G. Leroy, Geert

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 562 KB

english, 2010

29

Mapping and cloning hereditary deafness genes

Frans PM Cremers, Maria Bitner-Glindzicz, Marcus E Pembrey, Hans-Hilger Ropers

Journal:

Current Opinion in Genetics & Development

Year:

1995

Language:

english

File:

PDF, 400 KB

english, 1995

30

Guidelines and recommendations for testing of Cx26 mutations and interpretation of results

M. Mazzoli, V. Newton, A. Murgia, M. Bitner-Glindzicz, P. Gasparini, A. Read, A. Parving

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2004

Language:

english

File:

PDF, 59 KB

english, 2004

31

Late postnatal onset of hearing loss due to GJB2 mutations

Waheeda Pagarkar, Maria Bitner-Glindzicz, Jeffrey Knight, Tony Sirimanna

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2006

Language:

english

File:

PDF, 327 KB

english, 2006

32

CYP1B1-Related Anterior Segment Developmental Anomalies: Novel Mutations for Infantile Glaucoma and Von Hippel's Ulcer Revisited

Daniel Kelberman, Lily Islam, Thomas S. Jacques, Isabelle Russell-Eggitt, Maria Bitner-Glindzicz, Peng T. Khaw, Ken K. Nischal, Jane C. Sowden

Journal:

Year:

2011

Language:

english

File:

PDF, 1.74 MB

english, 2011

33

Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II

Alistair T. Pagnamenta, Iain P. Hargreaves, Andrew J. Duncan, Jan-Willem Taanman, Simon J. Heales, John M. Land, Maria Bitner-Glindzicz, James V. Leonard, Shamima Rahman

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 1.26 MB

english, 2006

34

P47 Mutations in the novel chaperone FOXRED1 cause mitochondrial complex I deficiency

E. Fassone, A.J. Duncan, J.-W. Taanman, A.T. Pagnamenta, M. Sadowski, T. Holand, W. Qasim, P. Rutland, S.E. Calvo, V.K. Mootha, M. Bitner-Glindzicz, S. Rahman

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 43 KB

english, 2011

35

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

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

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 949 KB

english, 2005

36

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing

Schrauwen, Isabelle, Sommen, Manou, Corneveaux, Jason J., Reiman, Rebecca A., Hackett, Nicole J., Claes, Charlotte, Claes, Kathleen, Bitner-Glindzicz, Maria, Coucke, Paul, Van Camp, Guy, Huentelman, M

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 148 KB

english, 2013

37

Mutational analyses of UPIIIA, SHH, EFNB2, and HNF1β in persistent cloaca and associated kidney malformations

Dagan Jenkins, Maria Bitner-Glindzicz, Louise Thomasson, Sue Malcolm, Stephanie A. Warne, Sally A. Feather, Sarah E. Flanagan, Sian Ellard, Coralie Bingham, Lane Santos, Mark Henkemeyer, Andrew Zinn,

Journal:

Journal of Pediatric Urology

Year:

2007

Language:

english

File:

PDF, 157 KB

english, 2007

38

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

Hoefsloot, Lies H, Roux, Anne-Françoise, Bitner-Glindzicz, Maria

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 336 KB

english, 2013

39

Deafblindness in French Canadians from Quebec: a predominant founder mutation in theUSH1Cgene provides the first genetic link with the Acadian population

Inga Ebermann, Irma Lopez, Maria Bitner-Glindzicz, Carolyn Brown…

Journal:

Year:

2007

Language:

english

File:

PDF, 1.90 MB

english, 2007

40

Mutation of SALL2 causes recessive ocular coloboma in humans and mice

Kelberman, D., Islam, L., Lakowski, J., Bacchelli, C., Chanudet, E., Lescai, F., Patel, A., Stupka, E., Buck, A., Wolf, S., Beales, P. L., Jacques, T. S., Bitner-Glindzicz, M., Liasis, A., Lehmann, O.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 2.48 MB

english, 2014

41

Lack of significant association between mutations ofKCNJ10orFOXI1andSLC26A4mutations in pendred syndrome/enlarged vestibular aqueducts

Landa, Priya, Differ, Ann-Marie, Rajput, Kaukab, Jenkins, Lucy, Bitner-Glindzicz, Maria

Journal:

BMC Medical Genetics

Year:

2013

Language:

english

File:

PDF, 190 KB

english, 2013

42

The effect of the common c.2299delG mutation in USH2A on RNA splicing

Lenassi, Eva, Saihan, Zubin, Bitner-Glindzicz, Maria, Webster, Andrew R.

Journal:

Experimental Eye Research

Year:

2014

Language:

english

File:

PDF, 913 KB

english, 2014

43

Vacancies.

Lenassi, Eva, Saihan, Zubin, Cipriani, Valentina, Le Quesne Stabej, Polona, Moore, Anthony T., Luxon, Linda M., Bitner-Glindzicz, Maria, Webster, Andrew R.

Journal:

Year:

1914

Language:

english

File:

PDF, 415 KB

english, 1914

44

Natural History and Retinal Structure in Patients with Usher Syndrome Type 1 Owing to MYO7A Mutation

Lenassi, Eva, Saihan, Zubin, Cipriani, Valentina, Le Quesne Stabej, Polona, Moore, Anthony T., Luxon, Linda M., Bitner-Glindzicz, Maria, Webster, Andrew R.

Journal:

Year:

2014

Language:

english

File:

PDF, 1.15 MB

english, 2014

45

Hereditary deafness and phenotyping in humans

Bitner-Glindzicz, M.

Journal:

British Medical Bulletin

Year:

2002

Language:

english

File:

PDF, 108 KB

english, 2002

46

Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3

Bitner-Glindzicz, Maria, Turnpenny, Peter, Höglund, Pia, Kääriäinen, Helena, Sankila, Eeva-Marja, van der Maarel, Sylvere M., de Kok, Yvette J.M., Ropers, Hans-Hilger, Cremers, Frans P.M., Pembrey, Ma

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.21 MB

english, 1995

47

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

Linden Phillips, Luan, Bitner-Glindzicz, Maria, Lench, Nicholas, Steel, Karen P., Langford, Cordelia, Dawson, Sally J., Davis, Adrian, Simpson, Sue, Packer, Claire

Journal:

International Journal of Audiology

Year:

2013

Language:

english

File:

PDF, 185 KB

english, 2013

48

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

de Kok, Y., van der Maarel, S., Bitner-Glindzicz, M., Huber, I., Monaco, A., Malcolm, S., Pembrey, M., Ropers, H., Cremers, F.

Journal:

Year:

1995

Language:

english

File:

PDF, 1.30 MB

english, 1995

49

Is gross motor delay secondary to bilateral vestibular hypofunction in Jervell and Lange-Nielsen syndrome?

Kulkarni, Alpana M., Rajput, Kaukab, Raglan, Ewa, Abrams, Dominic, Bitner-Glindzicz, Maria

Journal:

Audiological Medicine

Year:

2012

Language:

english

File:

PDF, 81 KB

english, 2012

50

Genetic investigations in childhood deafness

Parker, M., Bitner-Glindzicz, M.

Journal:

Archives of Disease in Childhood

Year:

2015

Language:

english

File:

PDF, 626 KB

english, 2015

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