M
Maria Bitner-Glindzicz
Researcher at Great Ormond Street Hospital for Children NHS Foundation Trust
Publications - 70
Citations - 5080
Maria Bitner-Glindzicz is an academic researcher from Great Ormond Street Hospital for Children NHS Foundation Trust. The author has contributed to research in topics: Hearing loss & Usher syndrome. The author has an hindex of 36, co-authored 65 publications receiving 4549 citations. Previous affiliations of Maria Bitner-Glindzicz include UCL Ear Institute & University College London.
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Journal ArticleDOI
GJB2 mutations and degree of hearing loss: a multicenter study.
Rikkert L. Snoeckx,Patrick L. M. Huygen,Delphine Feldmann,Sandrine Marlin,Françoise Denoyelle,Jaroslaw Waligora,Małgorzata Mueller-Malesińska,Agneszka Pollak,Rafał Płoski,Alessandra Murgia,Eva Orzan,Pierangela Castorina,Umberto Ambrosetti,Ewa Nowakowska-Szyrwinska,Jerzy Bal,Wojciech Wiszniewski,Andreas R. Janecke,Doris Nekahm-Heis,Pavel Seeman,O. Bendová,Margaret A. Kenna,Anna Frangulov,Heidi L. Rehm,Mustafa Tekin,Armagan Incesulu,Hans Henrik M. Dahl,Desirée du Sart,Lucy Jenkins,Deirdre Lucas,Maria Bitner-Glindzicz,Karen B. Avraham,Zippora Brownstein,Ignacio del Castillo,Felipe Moreno,Nikolaus Blin,Markus Pfister,István Sziklai,Tímea Tóth,Philip M. Kelley,Edward S. Cohn,Lionel Van Maldergem,Pascale Hilbert,Anne Françoise Roux,Michel Mondain,Lies H. Hoefsloot,Cor W. R. J. Cremers,Tuija Löppönen,Heikki Löppönen,Agnete Parving,Karen Grønskov,Iris Schrijver,Joseph B. Roberson,Francesca Gualandi,Alessandro Martini,Geneviève Lina-Granade,Nathalie Pallares-Ruiz,Céu Correia,Graça Fialho,Kim Cryns,Nele Hilgert,Paul Van de Heyning,Carla Nishimura,Richard J.H. Smith,Guy Van Camp +63 more
TL;DR: The association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations was assessed and two genotypes had significantly more-severe HI than that of 35delG homozygotes.
Journal ArticleDOI
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans
Daniel Kelberman,Karine Rizzoti,Ariel A. Avilion,Maria Bitner-Glindzicz,Stefano Cianfarani,Julie Collins,W. Kling Chong,Jeremy Kirk,John C. Achermann,Richard J. Ross,Danielle Carmignac,Robin Lovell-Badge,Iain C.A.F. Robinson,Mehul T. Dattani +13 more
TL;DR: The data show that SOX2 is necessary for the normal development and function of the hypothalamo-pituitary and reproductive axes in both humans and mice.
Journal ArticleDOI
The Jervell and Lange-Nielsen Syndrome Natural History, Molecular Basis, and Clinical Outcome
Peter J. Schwartz,Carla Spazzolini,Lia Crotti,Jørn Bathen,Jan P. Amlie,Katherine W. Timothy,Maria Shkolnikova,Charles I. Berul,Maria Bitner-Glindzicz,Lauri Toivonen,Minoru Horie,Eric Schulze-Bahr,Isabelle Denjoy +12 more
TL;DR: J-LN syndrome is a most severe variant of LQTS, with a very early onset and major QTc prolongation, and in which β-blockers have limited efficacy; early therapy with implanted cardioverter/defibrillators must be considered.
Journal ArticleDOI
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
Jessica Tyson,Lisbeth Tranebjærg,Sue Bellman,Christopher Wren,J F Taylor,Jørn Bathen,Bjørn Aslaksen,Svein Jan Sørland,Ole Lund,Sue Malcolm,Marcus E. Pembrey,Shomi S. Bhattacharya,Maria Bitner-Glindzicz +12 more
TL;DR: Sequencing of the affected boys showed a homozygous mutation, demonstrating that mutation in the IsK gene may be a rare cause of JLNS and that an indistinguishable phenotype can arise from mutations in either of the two interacting molecules.
Journal ArticleDOI
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene
Maria Bitner-Glindzicz,Keith J. Lindley,Paul Rutland,Diana Blaydon,Virpi V. Smith,Peter J. Milla,Khalid Hussain,J Furth-Lavi,Karen E. Cosgrove,RM Shepherd,Philippa D. Barnes,Rachel E. O'Brien,Peter A. Farndon,Jane C. Sowden,Xue Zhong Liu,Matthew J. Scanlan,Sue Malcolm,Mark J. Dunne,Albert Aynsley-Green,Benjamin Glaser +19 more
TL;DR: The pattern of expression of the USH1C protein is consistent with the clinical features exhibited by individuals with the contiguous gene deletion and with isolated Usher type 1C.