Literature DB >> 12746400

Distinctive audiometric profile associated with DFNB21 alleles of TECTA.

S Naz, F Alasti, A Mowjoodi, S Riazuddin, M H Sanati, T B Friedman, A J Griffith, E R Wilcox, S Riazuddin.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2003        PMID： 12746400      PMCID： PMC1735454          DOI： 10.1136/jmg.40.5.360

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  18 in total

1.  Evidence and implications of inhomogeneity in tectorial membrane elasticity.

Authors:  Brett Shoelson; Emilios K Dimitriadis; Hongxue Cai; Bechara Kachar; Richard S Chadwick
Journal:  Biophys J       Date:  2004-10       Impact factor: 4.033

Review 2.  The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.

Authors:  Denise Yan; Abhiraami Kannan-Sundhari; Subramanian Vishwanath; Jie Qing; Rahul Mittal; Mohan Kameswaran; Xue Zhong Liu
Journal:  Genet Test Mol Biomarkers       Date:  2015-07-17

3.  Genetic causes of moderate to severe hearing loss point to modifiers.

Authors:  Sadaf Naz; Ayesha Imtiaz; Ghulam Mujtaba; Azra Maqsood; Rasheeda Bashir; Ihtisham Bukhari; Muhammad R Khan; Memoona Ramzan; Amara Fatima; Atteeq U Rehman; Muddassar Iqbal; Taimur Chaudhry; Merete Lund; Carmen C Brewer; Robert J Morell; Thomas B Friedman
Journal:  Clin Genet       Date:  2016-10-06       Impact factor: 4.438

4.  Characterization of a spontaneous, recessive, missense mutation arising in the Tecta gene.

Authors:  Miguel Angel Moreno-Pelayo; Richard J Goodyear; Angeles Mencía; Silvia Modamio-Høybjør; P Kevin Legan; Leticia Olavarrieta; Felipe Moreno; Guy P Richardson
Journal:  J Assoc Res Otolaryngol       Date:  2008-05-02

5.  Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

Authors:  Denise Yan; Demet Tekin; Guney Bademci; Joseph Foster; F Basak Cengiz; Abhiraami Kannan-Sundhari; Shengru Guo; Rahul Mittal; Bing Zou; Mhamed Grati; Rosemary I Kabahuma; Mohan Kameswaran; Taye J Lasisi; Waheed A Adedeji; Akeem O Lasisi; Ibis Menendez; Marianna Herrera; Claudia Carranza; Reza Maroofian; Andrew H Crosby; Mariem Bensaid; Saber Masmoudi; Mahdiyeh Behnam; Majid Mojarrad; Yong Feng; Duygu Duman; Alex M Mawla; Alex S Nord; Susan H Blanton; Xue Z Liu; Mustafa Tekin
Journal:  Hum Genet       Date:  2016-06-25       Impact factor: 4.132

Review 6.  Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.

Authors:  Wenjun Xia; Fei Liu; Duan Ma
Journal:  Front Med       Date:  2016-05-03       Impact factor: 4.592

7.  Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.

Authors:  Margit Schraders; Laura Ruiz-Palmero; Ersan Kalay; Jaap Oostrik; Francisco J del Castillo; Orhan Sezgin; Andy J Beynon; Tim M Strom; Ronald J E Pennings; Celia Zazo Seco; Anne M M Oonk; Henricus P M Kunst; María Domínguez-Ruiz; Ana M García-Arumi; Miguel del Campo; Manuela Villamar; Lies H Hoefsloot; Felipe Moreno; Ronald J C Admiraal; Ignacio del Castillo; Hannie Kremer
Journal:  Am J Hum Genet       Date:  2012-11-02       Impact factor: 11.025

8.  The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.

Authors:  Quratul Ain; Sabiha Nazli; Saima Riazuddin; Ateeq-ul Jaleel; S Amer Riazuddin; Ahmad U Zafar; Shaheen N Khan; Tayyab Husnain; Andrew J Griffith; Zubair M Ahmed; Thomas B Friedman; Sheikh Riazuddin
Journal:  Hum Genet       Date:  2007-08-10       Impact factor: 4.132

Review 9.  Autosomal recessive nonsyndromic deafness genes: a review.

Authors:  Duygu Duman; Mustafa Tekin
Journal:  Front Biosci (Landmark Ed)       Date:  2012-06-01

Review 10.  Molecular genetic landscape of hereditary hearing loss in Pakistan.

Authors:  Sadaf Naz
Journal:  Hum Genet       Date:  2021-07-25       Impact factor: 4.132
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.