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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
11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features.
Authors: Kariminejad, Ariana; Kariminejad, Roxana; Tzschach, Andreas; Najafi, Hamid; Ahmed, Alischo; Ullmann, Reinhard; Ropers, Hans-Hilger; Kariminejad, Mohamad Hasan
Date of Publication (YYYY-MM-DD): 2010-08-26
Title of Journal: American Journal of Medical Genetics. Part A.
Volume: 152A
Issue / Number: 10
Start Page: 2651
End Page: 2655
Document Type: Article
ID: 533107.0
 
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
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
Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.
Authors: Hu, Hao; Wrogemann, Klaus; Kalscheuer, Vera M.; Tzschach, Andreas; Richard, Hugues; Haas, Stefan A.; Menzel, Corinna; Bienek, Melanie; Froyen, Guy; Raynaud, Martine; Van Bokhoven, Hans; Chelly, Jamel; Ropers, Hans-Hilger; Chen, Wei
Date of Publication (YYYY-MM-DD): 2010-04-11
Title of Journal: The Hugo Journal
Volume: 3
Issue / Number: 1-4
Start Page: 83
End Page: 83
Document Type: Article
ID: 533090.0
 
Full text / Content available
Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement.
Authors: Tzschach, Andreas; Menzel, Corinna; Erdogan, Fikret; Istifli, Erman Salih; Rieger, Martin; Ovens-Raeder, Angela; Macke, Alfons; Ropers, Hans-Hilger; Ullmann, Reinhard; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2010-03-26
Title of Journal: American Journal of Medical Genetics. Part A.
Volume: 152A
Issue / Number: 4
Start Page: 1008
End Page: 1012
Document Type: Article
ID: 536095.0
Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.
Authors: Budny, B.; Badura-Stronka, M.; Materna-Kiryluk, A.; Tzschach, Andreas; Raynaud, M.; Latos-Bielenska, A.; Ropers, Hans-Hilger
Date of Publication (YYYY-MM-DD): 2010-03-19
Title of Journal: Clinical Genetics: an International Journal of Genetics in Medicine
Volume: 77
Issue / Number: 6
Start Page: 541
End Page: 551
Document Type: Article
ID: 532417.0
 
Full text / Content available
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11.
Authors: Tzschach, Andreas; Bisgaard, Anne-Marie; Kirchhoff, Maria; Graul-Neumann, Luitgard M.; Neitzel, Heidemarie; Page, Stephanie; Ahmed, Alischo; Müller, Ines; Erdogan, Fikret; Ropers, Hans-Hilger; Kalscheuer, Vera M.; Ullmann, Reinhard
Date of Publication (YYYY-MM-DD): 2010-03-01
Title of Journal: European Journal of Human Genetics : EJHG
Volume: 18
Issue / Number: 3
Start Page: 291
End Page: 295
Document Type: Article
ID: 536097.0
Entries: 1-10  
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