|ISCN 2005: an international system for human cytogenetic nomenclature (2005): recommendations of the International Standing Committee on Human Cytogenetic Nomenclature|
LG Shaffer, N Tommerup
Karger Medical and Scientific Publishers, 2005
|Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9|
T Wagner, J Wirth, J Meyer, B Zabel, M Held, J Zimmer, J Pasantes, ...
Cell 79 (6), 1111-1120, 1994
|Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP|
F Petrif, RH Giles, HG Dauwerse, JJ Saris, RCM Hennekam, M Masuno, ...
Nature 376 (6538), 348-351, 1995
|Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene|
GL Xu, TH Bestor, D Bourc'his, CL Hsieh, N Tommerup, M Bugge, ...
Nature 402 (6758), 187-191, 1999
|A human phenome-interactome network of protein complexes implicated in genetic disorders|
K Lage, EO Karlberg, ZM Størling, PI Olason, AG Pedersen, O Rigina, ...
Nature biotechnology 25 (3), 309-316, 2007
|ISCN 2013: an international system for human cytogenetic nomenclature (2013)|
LG Shaffer, J McGowan-Jordan, M Schmid
Karger Medical and Scientific Publishers, 2013
|Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein|
J Chelly, Z Tümer, T Tønnesen, A Petterson, Y Ishikawa-Brush, ...
Nature genetics 3 (1), 14-19, 1993
|Ancient human genome sequence of an extinct Palaeo-Eskimo|
M Rasmussen, Y Li, S Lindgreen, JS Pedersen, A Albrechtsen, I Moltke, ...
Nature 463 (7282), 757-762, 2010
|Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation|
F Rousseau, D Heitz, V Biancalana, S Blumenfeld, C Kretz, J Boué, ...
New England Journal of Medicine 325 (24), 1673-1681, 1991
|BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression|
DE Jensen, M Proctor, ST Marquis, HP Gardner, SI Ha, LA Chodosh, ...
Oncogene 16 (9), 1097-1112, 1998
|JARID2 regulates binding of the Polycomb repressive complex 2 to target genes in ES cells|
D Pasini, PAC Cloos, J Walfridsson, L Olsson, JP Bukowski, JV Johansen, ...
Nature 464 (7286), 306-310, 2010
|MicroRNA expression in the adult mouse central nervous system|
M Bak, A Silahtaroglu, M Møller, M Christensen, MF Rath, B Skryabin, ...
Rna 14 (3), 432-444, 2008
|Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region|
JS Sutcliffe, M Nakao, S Christian, KH Örstavik, N Tommerup, ...
Nature genetics 8 (1), 52-58, 1994
|Molecular identification of a novel candidate sorting receptor purified from human brain by receptor-associated protein affinity chromatography|
CM Petersen, MS Nielsen, A Nykjær, L Jacobsen, N Tommerup, ...
Journal of Biological Chemistry 272 (6), 3599-3605, 1997
|Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome|
MV Bell, MC Hirst, Y Nakahori, RN MacKinnon, A Roche, TJ Flint, ...
Cell 64 (4), 861-866, 1991
|Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation|
VM Kalscheuer, J Tao, A Donnelly, G Hollway, E Schwinger, S Kübart, ...
The American Journal of Human Genetics 72 (6), 1401-1411, 2003
|Molecular characterization of a novel human hybrid-type receptor that binds the α2-macroglobulin receptor-associated protein|
L Jacobsen, P Madsen, SK Moestrup, AH Lund, N Tommerup, A Nykjær, ...
Journal of Biological Chemistry 271 (49), 31379-31383, 1996
|Detection of microRNAs in frozen tissue sections by fluorescence in situ hybridization using locked nucleic acid probes and tyramide signal amplification|
AN Silahtaroglu, D Nolting, L Dyrskjøt, E Berezikov, M Møller, ...
Nature protocols 2 (10), 2520, 2007
|Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy|
HC Mefford, S Clauin, AJ Sharp, RS Moller, R Ullmann, R Kapur, D Pinkel, ...
The American Journal of Human Genetics 81 (5), 1057-1069, 2007
|Obstetrical and gynecological complications in fragile X carriers: a multicenter study|
CE Schwartz, J Dean, PN Howard‐Peebles, M Bugge, M Mikkelsen, ...
American journal of medical genetics 51 (4), 400-402, 1994