Home News About Us Contact Contributors Disclaimer Privacy Policy Help FAQ

Quick Search
My eDoc
Session History
Support Wiki
Direct access to
document ID:

          Display Documents

Print in Citation style Print version     Display:
Sort by: Display records with Fulltext only
Entries: 1-10  
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
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
Identification of candidate genes for sporadic amyotrophic lateral sclerosis by array comparative genomic hybridization
Authors: Shoichet, Sarah A; Waibel, Stefan; Endruhn, Sonja; Sperfeld, Anne D.; Vorwerk, Brita; Mümlller, Ines; Erdogan, Fikret; Ludolph, Albert C.; Ropers, Hans-Hilger; Ullmann, Reinhard
Date of Publication (YYYY-MM-DD): 2009-06
Title of Journal: Amyotrophic Lateral Sclerosis
Volume: 10
Issue / Number: 3
Start Page: 162
End Page: 169
Document Type: Article
ID: 411218.0
Full text / Content available
Mapping translocation breakpoints by next-generation sequencing
Authors: Chen, Wei; Kalscheuer, Vera; Tzschach, Andreas; Menzel, Corinna; Ullmann, Reinhard; Schulz, Marcel Holger; Erdogan, Fikret; Na, Li; Kijas, Zofia; Arkesteijn, Ger; Pajares, Isidora Lopez; Goetz-Sothmann, Margret; Heinrich, Uwe; Rost, Imma; Dufke, Andreas; Grasshoff, Ute; Glaeser, Birgitta; Vingron, Martin; Ropers, H. Hilger
Date of Publication (YYYY-MM-DD): 2008-03-07
Title of Journal: Genome Research
Volume: 18
Issue / Number: 7
Start Page: 1143
End Page: 1149
Document Type: Article
ID: 403095.0
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia
Authors: Kirov, George; Gumus, Dilihan; Chen, Wei; Norton, Nadine; Georgieva, Lyudmila; Sari, Murat; O’Donovan, Michael C.; Erdogan, Fikret; Owen, Michael J.; Ropers, Hans-Hilger; Ullmann, Reinhard
Date of Publication (YYYY-MM-DD): 2008-03-01
Title of Journal: Human Molecular Genetics
Volume: 17
Issue / Number: 3
Start Page: 458
End Page: 465
Document Type: Article
ID: 408444.0
Full text / Content available
Blepharophimosis-ptosis, epicanthus inversus syndrome in a girl with chromosome translocation t(2;3) (q33;q23)
Authors: Tzschach, Andreas; Kelbova, Christina; Weidensee, Sabine; Peters, Hartmut; Ropers, Hans-Hilger; Ullmann, Reinhard; Erdogan, Fikret; Jurkatis, Jan; Menzel, Corinna; Kalscheuer, Vera M.; Demuth, Stephanie
Date of Publication (YYYY-MM-DD): 2008-03-01
Title of Journal: Ophthalmic Genetics
Volume: 29
Issue / Number: 1
Start Page: 37
End Page: 40
Document Type: Article
ID: 411286.0
Full text / Content available
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
Characterization of Interstitial Xp duplications in two families by tiling path array CGH. American Journal of Medical Genetics
Authors: Tzschach, Andreas; Chen, Wei; Erdogan, Fikret; Hoeller, Adelheid; Ropers, Hans-Hilger; Castellan, Claudio; Ullmann, Reinhard; Schinzel, Albert
Date of Publication (YYYY-MM-DD): 2008
Title of Journal: American Journal of Medical Genetics Part A
Volume: 146A
Issue / Number: 2
Start Page: 197
End Page: 203
Document Type: Article
ID: 411270.0
Full text / Content available
Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis
Authors: Bartsch, O.; Vlccaronková, Z.; Erdogan, Fikret; Ullmann, Reinhard; Novotná, D.; Spiegel, M.; Beyer, V.; Haaf, Thomas; Zechner, U.; Seemanová, E.
Date of Publication (YYYY-MM-DD): 2007-12-14
Title of Journal: Cytogenetic and Genome Research
Volume: 119
Issue / Number: 1 - 2
Start Page: 158
End Page: 64
Document Type: Article
ID: 333743.0
Full text / Content available
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation
Authors: Ullmann, Reinhard; Turner, Gillian; Kirchhoff, Maria; Chen, Wei; Tonge, Bruce; Rosenberg, Carla; Field, Michael; Vianna-Morgante, Angela M.; Christie, Louise; Krepischi-Santos, Ana C.; Banna, Lynn; Brereton, Avril V.; Hill, Alyssa; Bisgaard, Anne-Marie; Müller, Ines; Hultschig, Claus; Erdogan, Fikret; Wieczorek, Georg; Ropers, Hans-Hilger
Date of Publication (YYYY-MM-DD): 2007-05-04
Title of Journal: Human Mutation : Variation, Databases, and Disease
Volume: 28
Issue / Number: 7
Start Page: 674
End Page: 682
Document Type: Article
ID: 334809.0
Entries: 1-10  
The scope and number of records on eDoc is subject to the collection policies defined by each institute - see "info" button in the collection browse view.