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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
 
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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
 
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Entries: 1-2  
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