PMC Articles for MedGen (Select 409872) - PMC

Select item 54625361.

Integration of Tmc1/2 into the mechanotransduction complex in zebrafish hair cells is regulated by Transmembrane O-methyltransferase (Tomt)

Timothy Erickson, Clive P Morgan, Jennifer Olt, Katherine Hardy, Elisabeth Busch-Nentwich, Reo Maeda, Rachel Clemens, Jocelyn F Krey, Alex Nechiporuk, Peter G Barr-Gillespie, Walter Marcotti, Teresa Nicolson

eLife. 2017; 6: e28474. Published online 2017 May 23. doi: 10.7554/eLife.28474

PMCID:: PMC5462536

Article PubReader PDF–7.6M Cite

Select item 34047322.

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

Zubair M Ahmed, Saber Masmoudi, Ersan Kalay, Inna A Belyantseva, Mohamed Ali Mosrati, Rob W J Collin, Saima Riazuddin, Mounira Hmani-Aifa, Hanka Venselaar, Mayya N Kawar, Tlili Abdelaziz, Bert van der Zwaag, Shahid Y Khan, Leila Ayadi, S Amer Riazuddin, Robert J Morell, Andrew J Griffith, Ilhem Charfedine, Refik Çaylan, Jaap Oostrik, Ahmet Karaguzel, Abdelmonem Ghorbel, Sheikh Riazuddin, Thomas B Friedman, Hammadi Ayadi, Hannie Kremer

Nat Genet. Author manuscript; available in PMC 2012 Jul 25.

Published in final edited form as: Nat Genet. 2008 Nov; 40(11): 1335–1340. Published online 2008 Oct 26. doi: 10.1038/ng.245

PMCID:: PMC3404732

Article PubReader PDF–1.7M Cite

Select item 39205233.

Investigation of LRTOMT gene (locus DFNB63) mutations in Iranian patients with autosomal recessive non-syndromic hearing loss

Seyyed Hossein Taghizadeh, Seyyed Reza Kazeminezhad, Seyyed Ali Asghar Sefidgar, Nasrin Yazdanpanahi, Mohammad Amin Tabatabaeifar, Ahmad Yousefi, Seyyed Mohammad Lesani, Marziyeh Abolhasani, Morteza Hashemzadeh Chaleshtori

Int J Mol Cell Med. 2013 Winter; 2(1): 41–45.

PMCID:: PMC3920523

Article PubReader PDF–47K Cite

Select item 34817674.

Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss

MA Tabatabaiefar, F Alasti, M Montazer Zohour, L Shariati, E Farrokhi, DD Farhud, GV Camp, MR Noori-Daloii, M Hashemzadeh Chaleshtori

Iran J Public Health. 2011; 40(2): 34–48. Published online 2011 Jun 30.

PMCID:: PMC3481767

Article PubReader PDF–242K Cite

Select item 85800775.

Deep analysis of the LRTOMTc.242G>A variant in non‐syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies

Mohamed Ali Mosrati, Karima Fadhlaoui‐Zid, Amel Benammar‐Elgaaied, Abdullah Ahmed Gibriel, Mariem Ben Said, Saber Masmoudi

Mol Genet Genomic Med. 2021 Oct; 9(10): e1810. Published online 2021 Sep 13. doi: 10.1002/mgg3.1810

PMCID:: PMC8580077

Article PubReader PDF–724K Cite

Select item 38353696.

SLC26A4 Variations Among Graves’ Hyper-Functioning Thyroid Gland

Hassen Hadj-Kacem, Rihab Kallel, Salima Belguith-Maalej, Mouna Mnif, Ilhem Charfeddine, Abdelmounem Ghorbel, Mohamed Abid, Hammadi Ayadi, Saber Masmoudi

Dis Markers. 2010; 29(2): 63–69. Published online 2010 Nov 2. doi: 10.3233/DMA-2010-0727

PMCID:: PMC3835369

Summary PDF–1.5M Cite

Select item 30804337.

Vestibular Dysfunction in DFNB1 deafness

Kelley M Dodson, Susan H Blanton, Katherine O Welch, Virginia W Norris, Regina L Nuzzo, Jacob A. Wegelin, Ruth S Marin, Walter E Nance, Arti Pandya, Kathleen S Arnos

Am J Med Genet A. Author manuscript; available in PMC 2012 May 1.

Published in final edited form as: Am J Med Genet A. 2011 May; 155(5): 993–1000. Published online 2011 Apr 4. doi: 10.1002/ajmg.a.33828

PMCID:: PMC3080433

Article PubReader PDF–317K Cite

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 7

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity