Sledovat
Niels Tommerup
Niels Tommerup
Professor in Medical Genetics, University of Copenhagen
E-mailová adresa ověřena na: sund.ku.dk - Domovská stránka
Název
Citace
Citace
Rok
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
23992005
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
18251994
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
15161995
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
14831999
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
10782007
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
10302010
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
9081998
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
8731993
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
7561991
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
6482010
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
5992008
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
5091997
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
4871994
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
4651991
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
3902003
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
3121996
The phenotypic spectrum of SCN8A encephalopathy
J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ...
Neurology 84 (5), 480-489, 2015
3072015
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
3022007
Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency
MH Berryer, FF Hamdan, LL Klitten, RS Møller, L Carmant, ...
Human mutation 34 (2), 385-394, 2013
2942013
Single-molecule denaturation mapping of DNA in nanofluidic channels
W Reisner, NB Larsen, A Silahtaroglu, A Kristensen, N Tommerup, ...
Proceedings of the National Academy of Sciences 107 (30), 13294-13299, 2010
2822010
Systém momentálně nemůže danou operaci provést. Zkuste to znovu později.
Články 1–20