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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents



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ID: 334609.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
Authors:Najmabadi, Hossein; Motazacker, Mohammad Mahdi; Garshasbi, Masoud; Kahrizi, Kimia; Tzschach, Andreas; Chen, Wei; Behjati, Farkhondeh; Hadavi, Valeh; Nieh, Sahar Esmaeeli; Abedini, Seyedeh Sedigheh; Vazifehmand, Reza; Firouzabadi, Saghar Ghasemi; Jamali, Payman; Falah, Masoumeh; Seifati, Seyed Morteza; Grüters, Annette; Lenzner, Steffen; Jensen, Lars R.; Rüschendorf, Franz; Kuss, Andreas W.; Ropers, Hans-Hilger
Language:English
Research Context:Original Investigation
Date of Publication (YYYY-MM-DD):2007-03-01
Title of Journal:Human Genetics
Journal Abbrev.:Hum. Genet.
Volume:121
Issue / Number:1
Start Page:43
End Page:48
Copyright:© Springer. Part of Springer Science+Business Media
Review Status:not specified
Audience:Experts Only
Abstract / Description:Autosomal recessive gene defects are arguably the most important, but least studied genetic causes of severe cognitive dysfunction. Homozygosity mapping in 78 consanguineous Iranian families with nonsyndromic autosomal recessive mental retardation (NS-ARMR) has enabled us to determine the chromosomal localization of at least 8 novel gene loci for this condition. Our data suggest that in the Iranian population NS-ARMR is very heterogeneous, and they argue against the existence of frequent gene defects that account for more than a few percent of the cases.
Comment of the Author/Creator:H. Hilger Ropers
Email: ropers@molgen.mpg.de
External Publication Status:published
Document Type:Article
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran;
2.Genetic and Pathology Laboratory, Tehran, Iran;
3.Department of Paediatric Endocrinology, Otto Heubner Centre for Paediatrics, Berlin, Germany;
4.Gene Mapping Centre, Max Delbrück Centre for Molecular Medicine, Berlin, Germany.
Identifiers:ISSN:0340-6717
DOI:10.1007/s00439-006-0292-0
URL:http://www.springerlink.com/content/t281781xu1q727...
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