Home News About Us Contact Contributors Disclaimer Privacy Policy Help FAQ

Home
Search
Quick Search
Advanced
Fulltext
Browse
Collections
Persons
My eDoc
Session History
Login
Name:
Password:
Documentation
Help
Support Wiki
Direct access to
document ID:


          Display Documents


Institute:
Collection:
Print in Citation style Print version     Display:
Sort by: Display records with Fulltext only
Entries: 1-10  
 Basket 
Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24
Authors: Hilhorst-Hofstee, Yvonne; Tümer, Zeynep; Born, Peter; Knijnenburg, Jeroen; Hansson, Kerstin; Yatawara, Vindhya; Steensberg, Jesper; Ullmann, Reinhard; Arkesteijn, Ger; Tommerup, Niels; Larsen, Lars Allan
Date of Publication (YYYY-MM-DD): 2009-09
Title of Journal: American Journal of Medical Genetics Part A
Volume: 149
Issue / Number: 8
Start Page: 1830
End Page: 1833
Document Type: Article
ID: 472549.0
Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development
Authors: Zhang, Litu; Tümer, Zeynep; Møllgård, Kjeld; Barbi, Gotthold; Rossier, Eva; Bendsen, Eske; Møller, Rikke Steensbjerre; Ullmann, Reinhard; He, Jian; Papadopoulos, Nickolas; Tommerup, Niels; Larsen, Lars Allan
Date of Publication (YYYY-MM-DD): 2009-08
Title of Journal: European Journal of Human Genetics
Volume: 17
Issue / Number: 8
Start Page: 1010
End Page: 1018
Document Type: Article
ID: 473682.0
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly
Authors: Mller, Rikke S.; Kübart, Sabine; Hoeltzenbein, Maria; Heye, Babett; Vogel, Ida; Hansen, Christian P.; Menzel, Corinna; Ullmann, Reinhard; Tommerup, Niels; Ropers, Hans-Hilger; Tümer, Zeynep; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2008-04-16
Title of Journal: The American Journal of Human Genetics
Volume: 82
Issue / Number: 5
Start Page: 1165
End Page: 1170
Document Type: Article
ID: 411024.0
Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A
Authors: Møller, Rikke S.; Schneider, Lizette M.; Hansen, Christian P.; Bugge, Merete; Ullmann, Reinhard; Tommerup, Niels; Tümer, Zeynep
Date of Publication (YYYY-MM-DD): 2008-02-20
Title of Journal: Epilepsia
Volume: 49
Issue / Number: 6
Start Page: 1091
End Page: 1094
Document Type: Article
ID: 411031.0
 
Full text / Content available
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
Authors: Gilling, Mette; Lauritsen, Marlene Briciet; Møller, Morten; Henriksen, Karen Friis; Vicente, Astrid; Oliveira, Guiomar; Cintin, Christina; Eiberg, Hans; Andersen, Paal Skyt; Mors, Ole; Rosenberg, Thomas; Brøndum-Nielsen, Karen; Cotterill, Rodney M J; Lundsteen, Claes; Ropers, Hans-Hilger; Ullmann, Reinhard; Bache, Iben; Tümer, Zeynep; Tommerup, Niels
Date of Publication (YYYY-MM-DD): 2008-01-09
Title of Journal: European Journal of Human Genetics
Volume: 16
Issue / Number: 3
Start Page: 312
End Page: 319
Document Type: Article
ID: 408344.0
 
Full text / Content available
Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2
Authors: Jakobsen, Linda P.; Ullmann, Reinhard; Christensen, Steen B .; Jensen, Karl Erik; Mølsted, Kirsten; Henriksen, Karen F .; Hansen, Claus; Knudsen, Mary A; Larsen, Lars A.; Tommerup, Niels; Tümer, Zeynep
Date of Publication (YYYY-MM-DD): 2007-06-01
Title of Journal: Druckausga
Volume: 44
Issue / Number: 6
Start Page: 381
End Page: 386
Document Type: Article
ID: 334056.0
Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome
Authors: Belloso, Jose M; Bache, Iben; Guitart, Miriam; Caballin, Maria Rosa; Halgren, Christina; Kirchhoff, Maria; Ropers, Hans-Hilger; Tommerup, Niels; Tümer, Zeynep
Date of Publication (YYYY-MM-DD): 2007-03-28
Title of Journal: European Journal og Human Genetics : EJHG ; the Official Journal of the European Society of Human Genetics
Volume: 15
Issue / Number: 6
Start Page: 711
End Page: 713
Document Type: Article
ID: 333751.0
 
Full text / Content available
Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among Northern Europeans
Authors: Gilling, Mette; Dullinger, Jörn S.; Gesk, Stefan; Metzke-Heidemann, Simone; Siebert, Reiner; Meyer, Thomas; Brondum-Nielsen, Karen; Tommerup, Niels; Ropers, Hans-Hilger; Tümer, Zeynep; Kalscheuer, Vera M.; Thomas, N. Simon
Date of Publication (YYYY-MM-DD): 2006-03-17
Title of Journal: American Journal of Human Genetics : AJHG / American Society of Human Genetics
Volume: 78
Issue / Number: 5
Start Page: 878
End Page: 883
Document Type: Article
ID: 307626.0
 
Full text / Content available
Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease
Authors: Bækvad-Hansen, Marie; Tümer, Zeynep; Delicado, Alicia; Erdogan, Fikret; Tommerup, Niels; Larsen, Lars A.
Date of Publication (YYYY-MM-DD): 2006-02-06
Title of Journal: American Journal of Medical Genetics Part A
Volume: 140
Issue / Number: 5
Start Page: 427
End Page: 33
Document Type: Article
ID: 307318.0
 
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
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.