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Scholar Results 1 - 10 of 10 citing Kenna: Clinical and molecular genetic characterisation of a family segregating autosomal.... (0.08 sec) 

A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant …


N Al-Jandal, GJ Farrar, AS Kiang, MM … - Human mutation, 1999 - ncbi.nlm.nih.gov
More than 100 mutations within the rhodopsin gene have been found to be
responsible for some forms of retinitis pigmentosa, a progressive retinal
degeneration characterized by night blindness and subsequent disturbance of ...
Cited by 52 - Related articles - BL Direct - All 4 versions

Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A …

- nih.gov [PDF] 
FC Mansergh, S Millington-Ward, A Kennan, … - The American Journal of Human Genetics, 1999 - Elsevier
Family ZMK is a large Irish kindred that segregates progressive sensorineural
hearing loss and retinitis pigmentosa. The symptoms in the family are almost
identical to those observed in Usher syndrome type III. Unlike that in ...
Cited by 45 - Related articles - BL Direct - All 8 versions

Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome …

- bmj.com
A Iannaccone, DK Breuer, XF Wang, SF Kuo, … - British Medical Journal, 2003 - jmg.bmj.com
We recently identified a family with XLRP associated with hearing loss and
recurrent infections of the ear, sinuses, and respiratory tract. Hearing loss
and/or recurrent respiratory tract infections have rarely been reported in ...
Cited by 43 - Related articles - All 14 versions

Genetic mapping of the whirler mutation


MJC Rogers, J Fleming, BW Kiernan, P Mburu … - Mammalian Genome, 1999 - Springer
Abstract. The whirler (wi) mutation on mouse Chromosome (Chr) 4 results in an
autosomal recessive neuroepithelial deafness and vestibular dysfunction
exhibited as a characteristic shaker- waltzer behavior (deafness, circling, ...
Cited by 12 - Related articles - BL Direct - All 3 versions

[CITATION] Ardalan-Shoja-Kiuru syndrome hereditary gelsolin amyloidosis plus retinitis pigmentosa


G Shokouhi, HT Khosroshahi - Nephrology Dialysis Transplantation, 2007 - ERA-EDTA
Recently, in a commendable collaboration with Dr Kiuru-Enari of Helsinki
University and Dr Kashgarian of Yale University, Drs Ardalan and Shoja from
Tabriz reported a syndrome of corneal lattice dystrophy, progressive ...
Cited by 1 - Related articles - BL Direct - All 4 versions

A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant …


WT UK - Human Mutation - interscience.wiley.com
More than 100 mutations within the rhodopsin gene have been found to be
responsible for some forms of retinitis pigmentosa, a progressive retinal
degeneration characterized by night blindness and subsequent disturbance of ...
Cited by 1 - Related articles

[PDF] PROGRESSIVE CONE DYSTROPHY AND SENSORINEURAL HEARING LOSS


W JA, J DE ZAEYTIJD - Bull. Soc. belge Ophtalmol, 2004 - ophthalmologia.be
SUMMARY A 39-year old man presented 13 years ago with a history of progressive
loss of vision and photopho- bia. A full ophthalmological and ENT work-up du-
ring several years of follow-up, including psychophy- sical as well as ...
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HEREDITARY GELSOLIN AMYLOIDOSIS IN AN IRANIAN FAMILY: THE FIRST REPORT …


MR Ardalan, MM Shoja, T Paunio, S Tanskanen … - XIth International Symposium on Amyloidosis, 2007 - books.google.com
HEREDITARY GELSOLIN AMYLOIDOSIS IN AN IRANIAN FAMILY: THE FIRST REPORT FROM THE
MIDDLE EAST MR Ardalan1, MM Shoja1, T. Paunio2, S. Tanskanen2, S. Kiuru-Enari3,
A. Rastegar4, and M. Kashgarian5 'Department of Nephrology, Tabriz ...
Related articles

常染色体显性遗传视网膜色素变性家系的基因筛查


滕云, 田虹 - 中华医学遗传学杂志, 2003 - cqvip.com
首页; 期刊导航; 知识社区; 学者空间; 学术机构; 专题导读;
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遗传连锁分析法对一常染色体显性遗传性视网膜色素变性家系的基因定位研究


马晓晔, 魏锐利 - 第二军医大学学报, 2003 - cqvip.com
首页; 期刊导航; 知识社区; 学者空间; 学术机构; 专题导读;
充值中心; 论文翻译. 登录 注册 帮助. 维普资讯 ...
Related articles - All 4 versions


 


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