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Entries: 1-10  
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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
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
Authors: So, Joyce; Suckow, Vanessa; Kijas, Zofia; Kalscheuer, Vera; Moser, Bettina; Winter, Jennifer; Baars, Marieke; Firth, Helen; Lunt, Peter; Hamel, Ben; Meinecke, Peter; Moraine, Claude; Odent, Sylvie; Schinzel, Albert; van der Smagt, J.J.; Devriendt, Koen; Albrecht, Beate; Gillessen-Kaesbach, Gabriele; van der Burgt, Ineke; Petrij, Fred; Faivre, Laurence; McGaughran, Julie; McKenzie, Fiona; Opitz, John M.; Cox, Timothy; Schweiger, Susann
Date of Publication (YYYY-MM-DD): 2006-11-19
Title of Journal: American Journal of Medical Genetics Part A
Volume: 132A
Issue / Number: 1
Start Page: 1
End Page: 7
Document Type: Article
ID: 305422.0
 
Full text / Content available
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
Authors: So, Joyce; Suckow, Vanessa; Kijas, Zofia; Kalscheuer, Vera; Moser, Bettina; Winter, Jennifer; Baars, Marieke; Firth, Helen; Lunt, Peter; Hamel, Ben; Meinecke, Peter; Moraine, Claude; Odent, Sylvie; Schinzel, Albert; van der Smagt, J.J.; Devriendt, Koen; Albrecht, Beate; Gillessen-Kaesbach, Gabriele; van der Burgt, Ineke; Petrij, Fred; Faivre, Laurence; McGaughran, Julie; McKenzie, Fiona; Opitz, John M.; Cox, Timothy; Schweiger, Susann
Date of Publication (YYYY-MM-DD): 2006-11-19
Title of Journal: American Journal of Medical Genetics Part A
Volume: 132A
Issue / Number: 1
Start Page: 1
End Page: 7
Document Type: Article
ID: 305426.0
 
Full text / Content available
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
Haplotype sharing analysis identifies a retroviral dUTPase as candidate susceptibility gene for psoriasis
Authors: Foerster, John; Nolte, Ilja; Junge, Judith; Bruinenberg, Marcel; Schweiger, Susann; Spaar, Katja; van der Steege, Gerrit; Ehlert, Claudia; Mulder, Marcel; Kalscheuer, Vera
Date of Publication (YYYY-MM-DD): 2005-01-01
Title of Journal: The Journal of Investigative Dermatology : an International Journal for Research in Cutaneous Biology
Volume: 124
Issue / Number: 1
Start Page: 99
End Page: 102
Document Type: Article
ID: 269100.0
 
Full text / Content available
An excess of chromosome 1 breakpoints in male infertility
Authors: Bache, Iben; Van Assche, Elvire; Cingoz, Sultan; Bugge, Merete; Tümer, Zeynep; Hjorth, Mads; Lundsteen, Claes; Lespinasse, James; Winther, Kirsten; Niebuhr, Anita; Kalscheuer, Vera; Liebaers, Inge; Bonduelle, Maryse; Tournaye, Herman; Ayuso, Carmen; Barbi, Gotthold; Blennow, Elisabeth; Bourrouillou, Georges; Brondum-Nielsen, Karen; Bruun-Petersen, Gert; Croquette, Marie-Francoise; Dahoun, Sophie; Dallapiccola, Bruno; Davison, Val; Delobel, Bruno; Duba, Hans-Christoph; Duprez, Laurence; Ferguson-Smith, Malcolm; FitzPatrick, David R; Grace, Elizabeth; Hansmann, Ingo; Hultén, Maj; Jensen, Peter K A; Jonveaux, Philippe; Kristoffersson, Ulf; Lopez-Pajares, Isidora; McGowan-Jordan, Jean; Murken, Jan; Orera, Maria; Parkin, Tony; Passarge, Eberhard; Ramos, Carmen; Rasmussen, Kirsten; Schempp, Werner; Schubert, Regine; Schwinger, Eberhard; Shabtai, Fiorella; Smith, Kim; Stallings, Raymond; Stefanova, Margarita; Tranebjerg, Lisbeth; Turleau, Catherine; van der Hagen, Carl Birger; Vekemans, Michel; Vokac, Nadja Kokalj; Wagner, Klaus; Wahlstroem, Jan; Zelante, Leopoldo; Tommerup, Niels
Date of Publication (YYYY-MM-DD): 2004-09-15
Title of Journal: European Journal of Human Genetics
Volume: 12
Issue / Number: 12
Start Page: 993
End Page: 1000
Document Type: Article
ID: 224261.0
MECP2 gene mutations in non-syndromic X-linked mental retardation: Phenotype-genotype correlation
Authors: Gomot, Marie; Gendrot, Chantal; Verloes, Alain; Raynaud, Martine; David, Albert; Yntema, Helger G.; Dessay, Sabine; Kalscheuer, Vera; Frints, Suzanne; Convert, Philippe; Briault, Sylvain; Blesson, Sophie; Toutain, Annick; Chelly, Jamel; Desportes, Vincent; Moraine, Claude
Date of Publication (YYYY-MM-DD): 2003-12-01
Title of Journal: American Journal of Medical Genetics Part A
Volume: 123A
Issue / Number: 2
Start Page: 129
End Page: 139
Document Type: Article
ID: 127597.0
Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation
Authors: Engels, Hartmut; Ehrbrecht, Antje; Zahn, Susanne; Bosse, Kristin; Vrolijk, Hans; White, Stefan; Kalscheuer, Vera; Hoovers, Jan M. N.; Schwanitz, Gesa; Propping, Peter; Tanke, Hans J.; Wiegant, Joop; Raap, Anton K.
Date of Publication (YYYY-MM-DD): 2003-09
Title of Journal: European Journal of Human Genetics
Volume: 11
Issue / Number: 9
Start Page: 643
End Page: 651
Document Type: Article
ID: 126750.0
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the NXF5 gene
Authors: Frints, Suzanna G. M.; Jun, Lin; Fryns, Jean-Pierre; Devriendt, Koen; Teulingkx, Rudi; Van den Berghe, Lut; De Vos, Bernice; Borghgraef, Martine; Chelly, Jamel; Des Portes, Vincent; Van Bokhoven, Hans; Hamel, Ben; Ropers, Hans-Hilger; Kalscheuer, Vera; Raynaud, Martine; Moraine, Claude; Marynen, Peter; Froyen, Guy
Date of Publication (YYYY-MM-DD): 2003-06-15
Title of Journal: American Journal of Medical Genetics Part A
Volume: 119A
Issue / Number: 3
Start Page: 367
End Page: 374
Document Type: Article
ID: 126783.0
Nonsyndromic X-linked mental retardation: where are the missing mutations?
Authors: Ropers, Hans-Hilger; Hoeltzenbein, Maria; Kalscheuer, Vera; Yntema, Helger; Hamel, Ben; Fryns, Jean-Pierre; Chelly, Jamel; Partington, Michael; Gecz, Jozef; Moraine, Claude
Date of Publication (YYYY-MM-DD): 2003-06
Title of Journal: Trends in Genetics
Volume: 19
Issue / Number: 6
Start Page: 316
End Page: 320
Document Type: Article
ID: 127810.0
Entries: 1-10  
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