RGS6: A Novel Gene Associated With Congenital Cataract, Mental Retardation, and Microcephaly in a Tunisian Family

2014 ◽  
Vol 56 (2) ◽  
pp. 1261-1266 ◽  
Author(s):  
M. Chograni ◽  
F. S. Alkuraya ◽  
F. Maazoul ◽  
I. Lariani ◽  
H. Chaabouni-Bouhamed
Keyword(s):  
Mental Retardation ◽  
Congenital Cataract ◽  
Novel Gene ◽  
Tunisian Family

scholarly journals Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation

2003 ◽  
Vol 73 (5) ◽  
pp. 1120-1130 ◽  
Author(s):  
Kathryn P. Burdon ◽  
James D. McKay ◽  
Michèle M. Sale ◽  
Isabelle M. Russell-Eggitt ◽  
David A. Mackey ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Congenital Cataract ◽  
Pleiotropic Effects ◽  
Dental Anomalies ◽  
Novel Gene

Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene,TMEM114, expressed in the lens and disrupted by the translocation

2007 ◽  
Vol 28 (10) ◽  
pp. 968-977 ◽  
Author(s):  
Robyn V. Jamieson ◽  
Nicola Farrar ◽  
Katrina Stewart ◽  
Rahat Perveen ◽  
Marija Mihelec ◽  
...  
Keyword(s):  
Congenital Cataract ◽  
Balanced Translocation ◽  
Novel Gene

Autosomal recessive congenital cataract, intellectual disability phenotype linked toSTX3in a consanguineous Tunisian family

2014 ◽  
Vol 88 (3) ◽  
pp. 283-287 ◽  
Author(s):  
M. Chograni ◽  
F.S. Alkuraya ◽  
I. Ourteni ◽  
F. Maazoul ◽  
I. Lariani ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Autosomal Recessive ◽  
Congenital Cataract ◽  
Tunisian Family

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci

2006 ◽  
Vol 121 (1) ◽  
pp. 43-48 ◽  
Author(s):  
Hossein Najmabadi ◽  
Mohammad Mahdi Motazacker ◽  
Masoud Garshasbi ◽  
Kimia Kahrizi ◽  
Andreas Tzschach ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Autosomal Recessive ◽  
Homozygosity Mapping ◽  
Novel Gene

scholarly journals SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract

2015 ◽  
Vol 23 (12) ◽  
pp. 1627-1633 ◽  
Author(s):  
Christina Evers ◽  
Nagarajan Paramasivam ◽  
Katrin Hinderhofer ◽  
Christine Fischer ◽  
Martin Granzow ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autosomal Recessive ◽  
Congenital Cataract ◽  
Novel Gene ◽  
Whole Exome

scholarly journals Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports

2010 ◽  
Vol 4 (1) ◽  
Author(s):  
Mbarka Bchetnia ◽  
Ahlem Merdassi ◽  
Cherine Charfeddine ◽  
Fatma Mgaieth ◽  
Selma Kassar ◽  
...  
Keyword(s):  
Congenital Cataract ◽  
Case Reports ◽  
Mal De Meleda ◽  
Tunisian Family

A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation

2011 ◽  
Vol 54 (3) ◽  
pp. 241-246 ◽  
Author(s):  
Imen Rejeb ◽  
Lamia Ben Jemaa ◽  
Leila Abaied ◽  
Lilia Kraoua ◽  
Yoann Saillour ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Frame Shift ◽  
Frame Shift Mutation ◽  
Tunisian Family
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