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Entries: 1-10  
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Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 nvel loci and several mutation hotspots
Authors: Kuss, Andreas Walter; Garshasbi, Masoud; Kahrizi, Kimia; Tzschach, Andreas; Behjati, Farkhondeh; Darvish, Hossein; Abbasi-Moheb, Lia; Puettmann, Lucia; Zecha, Agnes; Weißmann, Robert; Hu, Hao; Mohseni, Marzieh; Abedini, Seyedeh Sedigheh; Rajab, Anna; Hertzberg, Christoph; Wieczorek, Dagmar; Ullmann, Reinhard; Saghar Ghasemi-Firouzabadi, Saghar; Banihashemi, Susan; Arzhangi, Sanaz; Hadavi, Valeh; Bahrami-Monajemi, Gholamreza; Kasiri, Mahboubeh; Falah, Masoumeh; Nikuei, Pooneh; Dehghan, Atefeh; Sobhani, Masoumeh; Jamali, Payman; Ropers, Hans-Hilger; Najmabadi, Hossein
Date of Publication (YYYY-MM-DD): 2010-11-09
Title of Journal: Human Genetics
Volume: 129
Issue / Number: 2
Start Page: 141
End Page: 148
Document Type: Article
ID: 533429.0
 
Full text / Content available
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.
Authors: Darvish, H. .; Nieh, Sahar Esmaeeli; Monajemi, G. B.; Mohseni, M.; Ghasemi-Firouzabadi, S.; Abedini, S. S.; Bahman, I.; P Jamali, P.; Azimi, S.; Mojahedi, F.; Dehghan, A.; Shafeghati, Y.; Jankhah, A.; Falah, M.; Soltani Banavandi, M. J.; Ghani-Kakhi, M.; Garshasbi, M.; Rakhshani, F.; Naghavi, A.; Tzschach, Andreas; Neitzel, H.; Ropers, Hans-Hilger; Kuss, Andreas W.; Behjati, F.; Kahrizi, K.; Najmabadi, Hossein
Date of Publication (YYYY-MM-DD): 2010-10-26
Title of Journal: Journal of Medical Genetics.
Volume: 47
Issue / Number: 12
Start Page: 823
End Page: 828
Document Type: Article
ID: 532565.0
 
Full text / Content available
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
Authors: Kahrizi, Kimia; Hu, Cougar Hao; Garshasbi, Masoud; Abedini, Seyedeh Sedigheh; Ghadami, Shirin; Kariminejad, Roxana; Ullmann, Reinhard; Chen, Wei; Ropers, Hans-Hilger; Kuss, Andreas W.; Najmabadi, Hossein; Tzschach, Andreas
Date of Publication (YYYY-MM-DD): 2010-08-11
Title of Journal: European Journal of Human Genetics
Volume: 19
Start Page: 115
End Page: 117
Document Type: Article
ID: 533103.0
 
Full text / Content available
Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.
Authors: Shafeghati, Yousef; Kahrizi, Kimia; Najmabadi, Hossein; Kuss, Andreas Walter; Ropers, Hans-Hilger; Tzschach, Andreas
Date of Publication (YYYY-MM-DD): 2010-07-26
Title of Journal: European Journal of Pediatrics
Volume: 169
Issue / Number: 12
Start Page: 1535
End Page: 1539
Document Type: Article
ID: 534123.0
 
Full text / Content available
Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation
Authors: Mir, Asif; Kaufman, Liana; Noor, Abdul; Motazacker, Mahdi M.; Jamil, Talal; Azam, Matloob; Kahrizi, Kimia; Rafiq, Muhammad Arshad; Weksberg, Rosanna; Nasr, Tanveer; Naeem, Farooq; Tzschach, Andreas; Kuss, Andreas W.; Ishak, Gisele E.; Doherty, Dan; Ropers, Hans-Hilger; Barkovich, A. James; Najmabadi, Hossein; Ayub, Muhammad; Vincent, John B.
Date of Publication (YYYY-MM-DD): 2009-12-11
Title of Journal: American Journal of Human Genetics
Volume: 85
Issue / Number: 6
Start Page: 909
End Page: 915
Document Type: Article
ID: 473319.0
Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population
Authors: Pouya, Ali Reza; Abedini, Seyedeh Sedigheh; Mansoorian, Neda; Behjati, Farkhondeh; Nikzat, Nooshin; Mohseni, Marzieh; Nieh, Sahar Esmaeeli; Moheb, Lia Abbasi; Darvish, Hossein; Monajemi, Gholamreza Bahrami; Banihashemi, Susan; Kahrizi, Kimia; Ropers, Hans-Hilger; Najmabadi, Hossein
Date of Publication (YYYY-MM-DD): 2009-04
Title of Journal: European Journal of Medical Genetics
Volume: 52
Issue / Number: 4
Start Page: 170
End Page: 173
Document Type: Article
ID: 473414.0
An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4
Authors: Kahrizi, Kimia; Najmabadi, Hossein; Kariminejad, Roxana; Jamali, Payman; Malekpour, Mahdi; Garshasbi, Masoud; Ropers, Hans-Hilger; Kuss, Andreas Walter; Tzschach, Andreas
Date of Publication (YYYY-MM-DD): 2009-01
Title of Journal: European Journal of Human Genetics
Volume: 17
Issue / Number: 1
Start Page: 125
End Page: 128
Document Type: Article
ID: 472564.0
Expanded mutational spectrum in Cohen Syndrome, tissue expression, and transcript variants of COH1
Authors: Seifert, Wenke; Holder-Espinasse, Muriel; Kühnisch, Jirko; Kahrizi, Kimia; Tzschach, Andreas; Garshasbi, Masoud; Najmabadi, Hossein; Kuss, Andreas Walter; Kress, Wolfram; Laureys, Geneviève; Loeys, Bart; Brilstra, Eva; Mancini, Grazia M.S.; Dollfus, Hélène; Dahan, Karin; Apse, Kira; Hennies, Hans Christian; Horn, Denise
Date of Publication (YYYY-MM-DD): 2008-11-12
Title of Journal: Human Mutation
Volume: 30
Issue / Number: 2
Start Page: E404
End Page: E420
Document Type: Article
ID: 411209.1
 
Full text / Content available
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation
Authors: Garshasbi, Masoud; Hadavi, Valeh; Habibi, Haleh; Kahrizi, Kimia; Kariminejad, Roxana; Behjati, Farkhondeh; Tzschach, Andreas; Najmabadi, Hossein; Ropers, Hans-Hilger; Kuss, Andreas Walter
Date of Publication (YYYY-MM-DD): 2008-05-01
Title of Journal: The American Journal of Human Genetics
Volume: 82
Issue / Number: 5
Start Page: 1158
End Page: 1164
Document Type: Article
ID: 408332.0
Identification of nonsense mutation in the very low density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome
Authors: Moheb, Lia Abbasi; Tzschach, Andreas; Garshasbi, Masoud; Kahrizi, Kimia; Darvish, Hossein; Heshmati, Yaser; Kordi, Alireza; Najmabadi, Hossein; Ropers, Hans-Hilger; Kuss, Andreas Walter
Date of Publication (YYYY-MM-DD): 2008
Title of Journal: European Journal of Human Genetics
Volume: 16
Start Page: 270
End Page: 273
Document Type: Article
ID: 411038.0
Entries: 1-10  
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