scholarly journals A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss

2008 ◽  
Vol 16 (5) ◽  
pp. 593-602 ◽  
Author(s):  
Nele Hilgert ◽  
Vedat Topsakal ◽  
Joost van Dinther ◽  
Erwin Offeciers ◽  
Paul Van de Heyning ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Splice Site ◽  
Autosomal Dominant ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Similar Phenotype

scholarly journals Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies

2015 ◽  
Vol 133 (5) ◽  
pp. 511 ◽  
Author(s):  
Suma P. Shankar ◽  
David G. Birch ◽  
Richard S. Ruiz ◽  
Dianna K. Hughbanks-Wheaton ◽  
Lori S. Sullivan ◽  
...  
Keyword(s):  
Splice Site ◽  
Founder Effect ◽  
Autosomal Dominant ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Retinal Dystrophies

scholarly journals A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy

Brain ◽  
2006 ◽  
Vol 130 (4) ◽  
pp. 1029-1042 ◽  
Author(s):  
M. V. Alavi ◽  
S. Bette ◽  
S. Schimpf ◽  
F. Schuettauf ◽  
U. Schraermeyer ◽  
...  
Keyword(s):  
Splice Site ◽  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy ◽  
Opa1 Gene

scholarly journals Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MRgene

2009 ◽  
Vol 10 (1) ◽  
Author(s):  
Kyoko Kanda ◽  
Kandai Nozu ◽  
Naoki Yokoyama ◽  
Ichiro Morioka ◽  
Akihiro Miwa ◽  
...  
Keyword(s):  
Splice Site ◽  
Autosomal Dominant ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Pseudohypoaldosteronism Type

A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss

2017 ◽  
Vol 173 (5) ◽  
pp. 1257-1263 ◽  
Author(s):  
Nesrin Gariballa ◽  
Afif Ben-Mahmoud ◽  
Makanko Komara ◽  
Aisha M. Al-Shamsi ◽  
Anne John ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Aberrant Splice ◽  
Site Mutation

scholarly journals Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, inPRPH2and Protein Haplotypes intransas Modifiers

2016 ◽  
Vol 57 (2) ◽  
pp. 349 ◽  
Author(s):  
Suma P. Shankar ◽  
Dianna K. Hughbanks-Wheaton ◽  
David G. Birch ◽  
Lori S. Sullivan ◽  
Karen N. Conneely ◽  
...  
Keyword(s):  
Splice Site ◽  
Autosomal Dominant ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Retinal Dystrophies

A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family

2014 ◽  
Vol 59 (12) ◽  
pp. 683-686 ◽  
Author(s):  
Saima Siddiqi ◽  
Muhammad Ismail ◽  
Jaap Oostrik ◽  
Saba Munawar ◽  
Atika Mansoor ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Sensorineural Hearing ◽  
Pakistani Family ◽  
Site Mutation

scholarly journals A novel splice site mutation in theRDXgene causes DFNB24 hearing loss in an Iranian family

2009 ◽  
Vol 149A (3) ◽  
pp. 555-558 ◽  
Author(s):  
A. Eliot Shearer ◽  
Michael S. Hildebrand ◽  
Catherine J. Bromhead ◽  
Kimia Kahrizi ◽  
Jennifer A. Webster ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Iranian Family

A novel splice site mutation inEYA4 causes DFNA10 hearing loss

2007 ◽  
Vol 143A (14) ◽  
pp. 1599-1604 ◽  
Author(s):  
Michael S. Hildebrand ◽  
David Coman ◽  
Tao Yang ◽  
R.J. McKinlay Gardner ◽  
Elizabeth Rose ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation
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