Gertjan van Ommen
Gertjan van Ommen
Professor in Human Genetics, Leiden University Medical Centre
Geverifieerd e-mailadres voor lumc.nl
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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
AJMH Verkerk, M Pieretti, JS Sutcliffe, YH Fu, DPA Kuhl, A Pizzuti, ...
Cell 65 (5), 905-914, 1991
34681991
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
EK Speliotes, CJ Willer, SI Berndt, KL Monda, G Thorleifsson, AU Jackson, ...
Nature genetics 42 (11), 937-948, 2010
26732010
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4
RA Ophoff, GM Terwindt, MN Vergouwe, R Van Eijk, PJ Oefner, ...
Cell 87 (3), 543-552, 1996
25221996
Transcriptome and genome sequencing uncovers functional variation in humans
T Lappalainen, M Sammeth, MR Friedländer, P AC‘t Hoen, J Monlong, ...
Nature 501 (7468), 506-511, 2013
13162013
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
12811995
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion
M Koenig, AH Beggs, M Moyer, S Scherpf, K Heindrich, T Bettecken, ...
American journal of human genetics 45 (4), 498, 1989
10731989
No distribution without individuals’ cognition: A dynamic interactional view
G Salomon
Distributed cognitions: Psychological and educational considerations, 111-138, 1993
1014*1993
Hundreds of variants clustered in genomic loci and biological pathways affect human height
HL Allen, K Estrada, G Lettre, SI Berndt, MN Weedon, F Rivadeneira, ...
Nature 467 (7317), 832-838, 2010
9742010
Local dystrophin restoration with antisense oligonucleotide PRO051
JC Van Deutekom, AA Janson, IB Ginjaar, WS Frankhuizen, ...
New England Journal of Medicine 357 (26), 2677-2686, 2007
9372007
Child and adolescent psychiatry (paedatrics)
E Taylor, RE Klaber, M Blair, C Lemer, M Watson, CVE Powell, P Heinz, ...
Archives of Disease in Childhood 102 (4), 376-379, 2017
922*2017
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution
IM Heid, AU Jackson, JC Randall, TW Winkler, L Qi, V Steinthorsdottir, ...
Nature genetics 42 (11), 949-960, 2010
8382010
Systemic administration of PRO051 in Duchenne's muscular dystrophy
NM Goemans, M Tulinius, JT van den Akker, BE Burm, PF Ekhart, ...
New England Journal of Medicine 364 (16), 1513-1522, 2011
7712011
Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platforms
PAC 't Hoen, Y Ariyurek, HH Thygesen, E Vreugdenhil, RHAM Vossen, ...
Nucleic acids research 36 (21), e141-e141, 2008
6882008
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
C Wijmenga, JE Hewitt, LA Sandkuijl, LN Clark, TJ Wright, HG Dauwerse, ...
Nature genetics 2 (1), 26-30, 1992
6211992
Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.
JT Den Dunnen, PM Grootscholten, E Bakker, LA Blonden, HB Ginjaar, ...
American journal of human genetics 45 (6), 835, 1989
6201989
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles
CEG Bruder, A Piotrowski, AACJ Gijsbers, R Andersson, S Erickson, ...
The American Journal of Human Genetics 82 (3), 763-771, 2008
6042008
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy
LM Kunkel
Nature 322 (6074), 73-77, 1986
5201986
Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading‐frame rule
A Aartsma‐Rus, JCT Van Deutekom, IF Fokkema, GJB Van Ommen, ...
Muscle & Nerve: Official Journal of the American Association of …, 2006
5172006
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome
U Francke, HD Ochs, B de Martinville, J Giacalone, V Lindgren, ...
American journal of human genetics 37 (2), 250, 1985
5071985
A unifying genetic model for facioscapulohumeral muscular dystrophy
RJLF Lemmers, PJ Van der Vliet, R Klooster, S Sacconi, P Camańo, ...
Science 329 (5999), 1650-1653, 2010
5022010
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