Bitner-Glindzicz M - Search Results

1

Kantaputra mesomelic dysplasia: a second reported family.

Shears DJ, Offiah A, Rutland P, Sirimanna T, Bitner-Glindzicz M, Hall C. Shears DJ, et al. Am J Med Genet A. 2004 Jul 1;128A(1):6-11. doi: 10.1002/ajmg.a.20640. Am J Med Genet A. 2004. PMID: 15211647

2

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

Idrees F, Bloch-Zupan A, Free SL, Vaideanu D, Thompson PJ, Ashley P, Brice G, Rutland P, Bitner-Glindzicz M, Khaw PT, Fraser S, Sisodiya SM, Sowden JC. Idrees F, et al. Am J Med Genet B Neuropsychiatr Genet. 2006 Mar 5;141B(2):184-91. doi: 10.1002/ajmg.b.30237. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16389592

3

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

Shears D, Conlon H, Murakami T, Fukai K, Alles R, Trembath R, Bitner-Glindzicz M. Shears D, et al. Clin Genet. 2004 May;65(5):384-9. doi: 10.1111/j.0009-9163.2004.00235.x. Clin Genet. 2004. PMID: 15099345

4

Late postnatal onset of hearing loss due to GJB2 mutations.

Pagarkar W, Bitner-Glindzicz M, Knight J, Sirimanna T. Pagarkar W, et al. Int J Pediatr Otorhinolaryngol. 2006 Jun;70(6):1119-24. doi: 10.1016/j.ijporl.2005.10.026. Epub 2006 Feb 15. Int J Pediatr Otorhinolaryngol. 2006. PMID: 16469394

5

Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.

Wolf NI, Cundall M, Rutland P, Rosser E, Surtees R, Benton S, Chong WK, Malcolm S, Ebinger F, Bitner-Glindzicz M, Woodward KJ. Wolf NI, et al. Neurogenetics. 2007 Jan;8(1):39-44. doi: 10.1007/s10048-006-0062-0. Epub 2006 Sep 13. Neurogenetics. 2007. PMID: 16969684

6

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

Fassone E, Duncan AJ, Taanman JW, Pagnamenta AT, Sadowski MI, Holand T, Qasim W, Rutland P, Calvo SE, Mootha VK, Bitner-Glindzicz M, Rahman S. Fassone E, et al. Hum Mol Genet. 2010 Dec 15;19(24):4837-47. doi: 10.1093/hmg/ddq414. Epub 2010 Sep 21. Hum Mol Genet. 2010. PMID: 20858599 Free PMC article.

7

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.

Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE, Farndon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S, Dunne MJ, Aynsley-Green A, Glaser B. Bitner-Glindzicz M, et al. Nat Genet. 2000 Sep;26(1):56-60. doi: 10.1038/79178. Nat Genet. 2000. PMID: 10973248

8

Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss.

O'Sullivan M, Rutland P, Lucas D, Ashton E, Hendricks S, Rahman S, Bitner-Glindzicz M. O'Sullivan M, et al. Hum Mol Genet. 2015 Feb 15;24(4):1036-44. doi: 10.1093/hmg/ddu518. Epub 2014 Oct 9. Hum Mol Genet. 2015. PMID: 25305075 Free PMC article.

9

Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.

Tranebjærg L, Strenzke N, Lindholm S, Rendtorff ND, Poulsen H, Khandelia H, Kopec W, Lyngbye TJB, Hamel C, Delettre C, Bocquet B, Bille M, Owen HH, Bek T, Jensen H, Østergaard K, Möller C, Luxon L, Carr L, Wilson L, Rajput K, Sirimanna T, Harrop-Griffiths K, Rahman S, Vona B, Doll J, Haaf T, Bartsch O, Rosewich H, Moser T, Bitner-Glindzicz M. Tranebjærg L, et al. Hum Genet. 2018 Mar;137(3):279-280. doi: 10.1007/s00439-018-1870-7. Hum Genet. 2018. PMID: 29435658

10

Aminoglycoside-induced deafness during treatment of acute leukaemia.

Bitner-Glindzicz M, Osei-Lah V, Colvin I, Sirimanna T, Lucas D, Mac Ardle B, Webb D, Shankar A, Kingston J, Jenkins L, Rahman S. Bitner-Glindzicz M, et al. Arch Dis Child. 2010 Feb;95(2):153-5. doi: 10.1136/adc.2009.158220. Arch Dis Child. 2010. PMID: 20172897

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

142 results

Search Page

Filters