PMC Articles for MedGen (Select 885579) - PMC

Select item 58861951.

Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts

Cong Tian, Leona H. Gagnon, Chantal Longo-Guess, Ron Korstanje, Susan M. Sheehan, Kevin K. Ohlemiller, Angela D. Schrader, Jaclynn M. Lett, Kenneth R. Johnson

Hum Mol Genet. 2017 Oct 1; 26(19): 3722–3735. Published online 2017 Jul 6. doi: 10.1093/hmg/ddx257

PMCID:: PMC5886195

Article PDF–879K

Select item 46308522.

A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report

Elizabeth E. Norgett, Anthony Yii, Katherine G. Blake-Palmer, Mostafa Sharifian, Louise E. Allen, Abdolhamid Najafi, Ariana Kariminejad, Fiona E. Karet Frankl

BMC Med Genet. 2015; 16: 38. Published online 2015 Jun 13. doi: 10.1186/s12881-015-0182-1

PMCID:: PMC4630852

Article PDF–984K

Select item 42170223.

Molecular Investigation of Distal Renal Tubular Acidosis in Tunisia, Evidence for Founder Mutations

Majdi Nagara, Konstantinos Voskarides, Sonia Nouira, Nizar Ben Halim, Rym Kefi, Hajer Aloulou, Lilia Romdhane, Rim Ben Abdallah, Faten Ben Rhouma, Khaoula Aissa, Lamia Boughamoura, Thouraya Kammoun, Hatem Azzouz, Saoussen Abroug, Hathemi Ben Turkia, Abdelkarim Ayadi, Ridha Mrad, Imen Chabchoub, Mongia Hachicha, Jalel Chemli, Constantinos Deltas, Sonia Abdelhak

Genet Test Mol Biomarkers. 2014 Nov 1; 18(11): 741–748. doi: 10.1089/gtmb.2014.0175

PMCID:: PMC4217022

Article PDF–441K

Select item 36028044.

The SLC26 Gene Family of Anion Transporters and Channels

Seth L. Alper, Alok K. Sharma

Mol Aspects Med. Author manuscript; available in PMC 2014 Apr 1.

Published in final edited form as: Mol Aspects Med. 2013 Apr; 34(2-3): 494–515. doi: 10.1016/j.mam.2012.07.009

PMCID:: PMC3602804

Article PDF–2.5M

Select item 17350175.

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

E Stover, K Borthwick, C Bavalia, N Eady, D Fritz, N Rungroj, A Giersch, C Morton, P Axon, I Akil, E Al-Sabban, D Baguley, S Bianca, A Bakkaloglu, Z Bircan, D Chauveau, M Clermont, A Guala, S Hulton, H Kroes, V Li, S Mir, H Mocan, A Nayir, S Ozen, S Rodriguez, S Sanjad, V Tasic, C Taylor, R Topaloglu, A Smith, F Karet

J Med Genet. 2002 Nov; 39(11): 796–803. doi: 10.1136/jmg.39.11.796

PMCID:: PMC1735017

Summary PDF–403K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 5

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity