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Entries: 1-8  
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Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications.
Authors: Bartsch, Oliver; Gebauer, Konstanze; Lechno, Stanislav; van Esch, Hilde; Froyen, Guy; Bonin, Michael; Jörg Seidel, Jörg Seidel; Thamm-Mücke, Barbara; Horn, Denise; Klopock, Eva; Hertzberg, Christoph; Zechner, Ulrich; Haaf, Thomas
Date of Publication (YYYY-MM-DD): 2010-01-15
Title of Journal: American Journal of Medical Genetics Part A
Volume: 152A
Issue / Number: 2
Start Page: 305
End Page: 312,
Document Type: Article
ID: 536214.0
 
Full text / Content available
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder
Authors: Haensel, Jennifer; Kohlschmidt, Nicolai; Pitz, Susanne; Keilmann, Annerose; Zenker, Martin; Ullmann, Reinhard; Haaf, Thomas; Bartsch, Oliver
Date of Publication (YYYY-MM-DD): 2009-10
Title of Journal: American Journal of Medical Genetics Part A
Volume: 149
Issue / Number: 10
Start Page: 2236
End Page: 2240
Document Type: Article
ID: 472539.0
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome
Authors: Bartsch, Oliver; Rasi, Sasan; Delicado, Alicia; Dyack, Sarah; Neumann, Luitgard M.; Seemanová, Eva; Volleth, Marianne; Haaf, Thomas; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2006-06-17
Title of Journal: Human Genetics
Volume: 120
Issue / Number: 3
Start Page: 179
End Page: 186
Document Type: Article
ID: 307322.0
 
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A region on human chromosome 4 (q35.1-->qter) induces senescence in cell hybrids and is involved in cervical carcinogenesis
Authors: Backsch, Claudia; Rudolph, Bettina; Kuehne-Hei, Rosemarie; Kalscheuer, Vera; Bartsch, Oliver; Jansen, Lars; Beer, Katrin; Meyer, Birgit; Schneider, Achim; Duerst, Matthias
Date of Publication (YYYY-MM-DD): 2005-04-18
Title of Journal: Genes Chromosomes & Cancer
Volume: 43
Issue / Number: 12
Start Page: 260
End Page: 267
Document Type: Article
ID: 268554.0
 
Full text / Content available
Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33
Authors: Walter, Sabine; Sandig, Klaus; Hinkel, Georg K.; Mitulla, Beate; Ounap, Katrin; Sims, Giles; Sitska, Mari; Utermann, Barbara; Viertel, Petra; Kalscheuer, Vera M.; Bartsch, Oliver
Date of Publication (YYYY-MM-DD): 2004-06-11
Title of Journal: American Journal of Medical Genetics
Volume: 128A
Issue / Number: 4
Start Page: 364
End Page: 373
Document Type: Article
ID: 225689.0
cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2
Authors: Musante, Luciana; Bartsch, Oliver; Ropers, Hans-Hilger; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2004-04-14
Title of Journal: Gene
Volume: 332
Start Page: 119
End Page: 127
Document Type: Article
ID: 225125.0
Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females.
Authors: Poyhonen, Minna H; Peippo, Maarit M; Valanne, Leena K; Kuokkanen, Kirsti E; Koskela, Susanna M; Bartsch, Oliver; Rasi, Sasan; Wiebe, Glenis J; Kahkonen, Marketta; Kaariainen, Helena A
Date of Publication (YYYY-MM-DD): 2004
Title of Journal: Clinical Dysmorphology
Volume: 13
Issue / Number: 2
Start Page: 85
End Page: 90
Document Type: Article
ID: 229748.0
Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region
Authors: Horn, Denise; Neitzel, Heidemarie; Tonnies, Holger; Kalscheuer, Vera; Kunze, Jürgen; Hinkel, Georg Klaus; Bartsch, Oliver
Date of Publication (YYYY-MM-DD): 2003-03-15
Title of Journal: American Journal of Medical Genetics Part A
Volume: 117A
Issue / Number: 3
Start Page: 236
End Page: 244
Document Type: Article
ID: 127635.0
Entries: 1-8  
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