scholarly journals Genetic Analysis of Indian Families with Autosomal Recessive Retinitis Pigmentosa by Homozygosity Screening

2009 ◽  
Vol 50 (9) ◽  
pp. 4065 ◽  
Author(s):  
Hardeep Pal Singh ◽  
Subhadra Jalali ◽  
Raja Narayanan ◽  
Chitra Kannabiran
Keyword(s):  
Genetic Analysis ◽  
Retinitis Pigmentosa ◽  
Autosomal Recessive

scholarly journals Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia

2012 ◽  
Vol 2012 ◽  
pp. 1-6 ◽  
Author(s):  
Daniela Domanico ◽  
Serena Fragiotta ◽  
Paolo Trabucco ◽  
Marcella Nebbioso ◽  
Enzo Maria Vingolo
Keyword(s):  
Genetic Analysis ◽  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Genetic Factors ◽  
Psychiatric Symptoms ◽  
Genetic Disorders ◽  
Usher Syndrome ◽  
High Prevalence ◽  
Psychiatric Manifestations ◽  
The Relationship

Usher syndrome is a group of autosomal recessive genetic disorders characterized by deafness, retinitis pigmentosa, and sometimes vestibular areflexia. The relationship between Usher syndrome and mental disorders, most commonly a “schizophrenia-like” psychosis, is sometimes described in the literature. The etiology of psychiatric expression of Usher syndrome is still unclear. We reported a case of two natural siblings with congenital hypoacusis, retinitis pigmentosa, and psychiatric symptoms. Clinical features and genetic analysis were also reported. We analyzed possible causes to explain the high prevalence of psychiatric manifestations in Usher syndrome: genetic factors, brain damage, and “stress-related” hypothesis.

Molecular Genetic Analysis of Two Functional Candidate Genes in the Autosomal Recessive Retinitis Pigmentosa, RP25, Locus

2005 ◽  
Vol 30 (12) ◽  
pp. 1081-1087 ◽  
Author(s):  
Mai M. Abd El-Aziz ◽  
Mohamed F. El-Ashry ◽  
Isabel Barragan ◽  
Irene Marcos ◽  
Salud Borrego ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Retinitis Pigmentosa ◽  
Candidate Genes ◽  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis

Genetic Analysis of FAM46A in Spanish Families with Autosomal Recessive Retinitis Pigmentosa: Characterisation of Novel VNTRs

2007 ◽  
Vol 0 (0) ◽  
pp. 070907134358001-??? ◽  
Author(s):  
I. Barragán ◽  
S. Borrego ◽  
M. M. Abd El-Aziz ◽  
M. F. El-Ashry ◽  
L. Abu-Safieh ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Retinitis Pigmentosa ◽  
Autosomal Recessive

Strategies for the Genetic Analysis of Autosomal Recessive Retinitis Pigmentosa in Spanish Families

1997 ◽  
pp. 263-275 ◽  
Author(s):  
Roser González-Duarte ◽  
Mónica Bayés ◽  
Amalia Martínez-Mir ◽  
Diana Valverde ◽  
Susana Balcells ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Retinitis Pigmentosa ◽  
Autosomal Recessive

Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa

2021 ◽  
pp. 1-8
Author(s):  
Moustafa Magliyah ◽  
Abdulaziz A. Alshamrani ◽  
Patrik Schatz ◽  
Ibrahim Taskintuna ◽  
Yahya Alzahrani ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Clinical Spectrum ◽  
Genetic Associations

scholarly journals A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.

1998 ◽  
Vol 35 (2) ◽  
pp. 141-145 ◽  
Author(s):  
M Bayes ◽  
B Goldaracena ◽  
A Martinez-Mir ◽  
M I Iragui-Madoz ◽  
T Solans ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive

scholarly journals Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual

2016 ◽  
Vol 57 (3) ◽  
pp. 940 ◽  
Author(s):  
Avigail Beryozkin ◽  
Gal Levy ◽  
Anat Blumenfeld ◽  
Segev Meyer ◽  
Prasanthi Namburi ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Retinitis Pigmentosa ◽  
Healthy Individual ◽  
Rhodopsin Gene

scholarly journals Autosomal Recessive Retinitis Pigmentosa Caused by Mutations in theMAKGene

2011 ◽  
Vol 52 (13) ◽  
pp. 9665 ◽  
Author(s):  
Edwin M. Stone ◽  
Xunda Luo ◽  
Elise Héon ◽  
Byron L. Lam ◽  
Richard G. Weleber ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive

scholarly journals Novel Null Mutations in theEYSGene Are a Frequent Cause of Autosomal Recessive Retinitis Pigmentosa in the Israeli Population

2010 ◽  
Vol 51 (9) ◽  
pp. 4387 ◽  
Author(s):  
Dikla Bandah-Rozenfeld ◽  
Karin W. Littink ◽  
Tamar Ben-Yosef ◽  
Tim M. Strom ◽  
Itay Chowers ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Israeli Population
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