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

Najmabadi, H., Motazacker, M. M., Garshasbi, M., Kahrizi, K., Tzschach, A., Chen, W., et al. (2007). Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Human Genetics, 121(1), 43-48. doi:10.1007/s00439-006-0292-0.

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Item Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-822A-0 Version Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-822B-E
Genre: Journal Article
Alternative Title : Hum. Genet.

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 Creators:
Najmabadi, Hossein, Author
Motazacker, Mohammad Mahdi1, Author
Garshasbi, Masoud2, Author           
Kahrizi, Kimia, Author
Tzschach, Andreas2, Author           
Chen, Wei2, Author           
Behjati, Farkhondeh, Author
Hadavi, Valeh, Author
Nieh, Sahar Esmaeeli1, Author
Abedini, Seyedeh Sedigheh, Author
Vazifehmand, Reza, Author
Firouzabadi, Saghar Ghasemi, Author
Jamali, Payman, Author
Falah, Masoumeh, Author
Seifati, Seyed Morteza, Author
Grüters, Annette, Author
Lenzner, Steffen1, Author
Jensen, Lars R.3, Author           
Rüschendorf, Franz, Author
Kuss, Andreas W.4, Author           
Ropers, Hans-Hilger2, Author            more..
Affiliations:
1Max Planck Society, ou_persistent13              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
4Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479644              

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 Abstract: 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.

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Language(s): eng - English
 Dates: 2007-03-01
 Publication Status: Issued
 Pages: -
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 Identifiers: eDoc: 334609
DOI: 10.1007/s00439-006-0292-0
URI: http://www.springerlink.com/content/t281781xu1q72793/fulltext.pdf
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Title: Human Genetics
  Alternative Title : Hum. Genet.
Source Genre: Journal
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Pages: - Volume / Issue: 121 (1) Sequence Number: - Start / End Page: 43 - 48 Identifier: ISSN: 0340-6717