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Entries: 1-10  
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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
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
Authors: Walczak-Sztulpa, Joanna; Eggenschwiler, Jonathan; Osborn, Daniel; Brown, Desmond A.; Emma, Francesco; Klingenberg, Claus; Hennekam, Raoul C.; Torre, Giuliano; Garshasbi, Masoud; Tzschach, Andreas; Szczepanska, Malgorzata; Krawczynski, Marian; Zachwieja, Jacek; Zwolinska, Danuta; Beales, Philip L.; Ropers, Hans-Hilger; Latos-Bielenska, Anna; Kuss, Andreas W.
Date of Publication (YYYY-MM-DD): 2010-06-11
Title of Journal: American Journal of Human Genetics
Volume: 86
Issue / Number: 6
Start Page: 949
End Page: 956
Document Type: Article
ID: 536136.0
Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function.
Authors: Trimborn, Marc; Ghani, Mahdi; Walther, Diego J.; Dopatka, Monika; Dutrannoy, Véronique; Busche, Andreas; Meyer, Franziska; Nowak, Stefanie; Nowak, Jean N; Zabel, Claus; Klose, Joachim; Esquitino, Veronica; Garshasbi, Masoud; Kuss, Andreas W.; Ropers, Hans-Hilger; Mueller, Susanne; Poehlmann, Charlotte; Gavvovidis, Ioannis; Schindler, Detlev; Sperling, Karl; Neitzel, Heidemarie
Date of Publication (YYYY-MM-DD): 2010-02-16
Title of Journal: PLoS ONE
Volume: 5
Issue / Number: 2
Start Page: e9242.
End Page: e9242.
Document Type: Article
ID: 535983.0
 
Full text / Content available
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C
Authors: Jensen, Lars R.; Bartenschlager, Heinz; Rujirabanjerd, Sinitdhorn; Tzschach, Andreas; Nümann, Astrid; Janecke, Andreas R.; Spörle, Ralf; Stricker, Sigmar; Raynaud, Martine; Nelson, John; Hackett, Anna; Fryns, Jean-Pierre; Chelly, Jamel; de Brouwer, Arjan P. M.; Hamel, Ben; Gecz, Jozef; Ropers, Hans-Hilger; Kuss, Andreas W.
Date of Publication (YYYY-MM-DD): 2010-02-02
Title of Journal: Pathogenetics
Volume: 3
Start Page: 2
End Page: 2
Document Type: Article
ID: 472557.0
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylose KDM5C.
Authors: Jensen, Lars R.; Bartenschlager, Heinz; Rujirabanjerd, Sinitdhorn; Tzschach, Andreas; Nümann, Astrid; Janecke, Andreas R.; Spörle, Ralf; Stricker, Sigmar; Raynaud, Martine; Nelson, John; Hackett, Anna; Fryns, Jean-Pierre; Chelly, Jamel; de Brouwer, Arjan P. M.; Hamel, Ben; Gecz, Jozef; Ropers, Hans-Hilger; Kuss, Andreas W.
Date of Publication (YYYY-MM-DD): 2010-02-01
Title of Journal: Pathogenetics
Volume: 2
Issue / Number: 3
Start Page: 2
End Page: 2
Document Type: Article
ID: 533094.0
 
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
Chromosome deletions in 13q33-34: Report of four patients and review of the literature
Authors: Walczak-Sztulpa, Joanna; Wisniewska, Marzena; Latos-Bielenska, Anna; Linné, Maja; Kelbova, Christina; Belitz, Britta; Pfeiffer, Lutz; Kalscheuer, Vera M.; Erdogan, Fikret; Kuss, Andreas W.; Ropers, Hans-Hilger; Ullmann, Reinhard; Tzschach, Andreas
Date of Publication (YYYY-MM-DD): 2008-01-17
Title of Journal: American Journal of Medical Genetics Part A
Volume: 146
Issue / Number: 3
Start Page: 337
End Page: 342
Document Type: Article
ID: 411599.0
 
Full text / Content available
Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation
Authors: Chen, Wei; Jensen, Lars R; Gecz, Jozef; Fryns, Jean-Pierre; Moraine, Claude; de Brouwer, Arjan; Chelly, Jamel; Moser, Bettina; Ropers, Hans-Hilger; Kuss, Andreas W.
Date of Publication (YYYY-MM-DD): 2007-03-01
Title of Journal: European Journal of Human Genetics : EJHG ; the Official Journal of the European Society of Human Genetics
Volume: 15
Issue / Number: 3
Start Page: 375
End Page: 378
Document Type: Article
ID: 333773.0
 
Full text / Content available
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
Date of Publication (YYYY-MM-DD): 2007-03-01
Title of Journal: Human Genetics
Volume: 121
Issue / Number: 1
Start Page: 43
End Page: 48
Document Type: Article
ID: 334609.0
 
Full text / Content available
Entries: 1-10  
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