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

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

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

VITAMIN D AND CRANIOFACIAL AND DENTAL ANOMALIES OF SUPRAVALVULAR STENOSIS

PEDIATRICS ◽  
1969 ◽  
Vol 43 (1) ◽  
pp. 1-2
Author(s):  
Richard D. Rowa ◽  
Robert E. Cooke
Keyword(s):  
Vitamin D ◽  
Mental Retardation ◽  
Pulmonary Stenosis ◽  
Vascular Disorder ◽  
Dental Anomalies ◽  
Older Children ◽  
The Past ◽  
Sick Children ◽  
Supravalvular Stenosis ◽  
Pediatric Disorders

Few pediatric disorders have undergone such fascinating extensions to their clinical picture as has been the case in idiopathic hypercalcemia of infancy during the past decade. Features of the infantile illness were described in the early 1950 by workers in England and Europe. Ten years later an apparently unrelated vascular disorder comprising a peculiar facies, mental retardation, supravalvular aortic and pulmonary stenosis and dental anomalies was reported from New Zealand and Germany. Black and Bonham Carter, at the Hospital for Sick Children, Great Ormond Street, through recognizing a similarity between the facial apperance of these retarded older children and the elfin facies characteristic of infantile hypercalcemia, were able to postulate a relationship between the two clinical entities.

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 Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation

2011 ◽  
Vol 11 (1) ◽  
Author(s):  
Manèl Chograni ◽  
Myriam Chaabouni ◽  
Faouzi Mâazoul ◽  
Hedi Bouzid ◽  
Abdelhafid Kraiem ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Human Brain ◽  
Congenital Cataract ◽  
Genes Encoding
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