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Entries: 1-10  
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Cohort of Balanced Reciprocal Translocations Associated with Dyslexia: Identification of Two Putative Candidate Genes at DYX1.
Authors: Buonincontri, Roberta; Bache, Iben; Silahtaroglu, Asli; Elbro, Carsten; Veber Nielsen, Anne-Mette; Ullmann, Reinhard; Arkesteijn, Ger; Tommerup, Niels
Date of Publication (YYYY-MM-DD): 2010-08-27
Title of Journal: Behavior Genetics: an International Journal Devoted to Research in the Inheritance of Behavior in Animals and man
Volume: 41
Issue / Number: 1
Start Page: 125
End Page: 133
Document Type: Article
ID: 532540.0
 
Full text / Content available
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
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation
Authors: Kalscheuer, Vera M.; Musante, Luciana; Fang, Cheng; Hoffmann, Kirsten; Fuchs, Celine; Carta, Eloisa; Deas, Emma; Venkateswarlu, Kanamarlapudi; Menzel, Corinna; Ullmann, Reinhard; Tommerup, Niels; Dalprà, Leda; Tzschach, Andreas; Selicorni, Angelo; Lüscher, Bernhard; Ropers, Hans-Hilger; Harvey, Kirsten; Harvey, Robert J.
Date of Publication (YYYY-MM-DD): 2009-01
Title of Journal: Human Mutation
Volume: 30
Issue / Number: 1
Start Page: 61
End Page: 68
Document Type: Article
ID: 472570.0
A cryptic unbalanced translocation resulting in del 13q and dup 15q
Authors: Tészás, Alexandra; Møller, Rikke S; Kellermayer, Richard; Czakó, Márta; Kjaer, Klaus W.; Ullmann, Reinhard; Melegh, Béla; Tommerup, Niels; Kosztolányi, György
Date of Publication (YYYY-MM-DD): 2008-09-15
Title of Journal: American Journal of Medical Genetics Part A
Volume: 146A
Issue / Number: 19
Start Page: 2570
End Page: 2573
Document Type: Article
ID: 411254.0
Investigation of 4q-deletion in two unrelated patients using array CGH
Authors: Kaalund, S. S.; Møller, R. S.; Tészás, A.; Miranda, M.; Kosztolanyi, G.; Ullmann, Reinhard; Tommerup, Niels; Tümer, Z.
Date of Publication (YYYY-MM-DD): 2008-05-28
Title of Journal: American Journal of Medical Genetics : Part A
Volume: 146 A
Issue / Number: 18
Start Page: 2431
End Page: 2434
Document Type: Article
ID: 408379.0
 
Full text / Content available
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
Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe.
Authors: Møller, R. S.; Hansen, C. P.; Jackson, G. D.; Ullmann, Reinhard; Ropers, Hans-Hilger; Tommerup, Niels; Tümer, Z.
Date of Publication (YYYY-MM-DD): 2007-12-01
Title of Journal: Clinical Genetics
Volume: 72
Issue / Number: 6
Start Page: 593
End Page: 598
Document Type: Article
ID: 334524.0
 
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Entries: 1-10  
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