Conny van Ravenswaaij-Arts
Conny van Ravenswaaij-Arts
Professor in Dysmorphology, Department of Genetics, UMC Groningen, University of Groningen
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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
LELM Vissers, CMA van Ravenswaaij, R Admiraal, JA Hurst, ...
Nature genetics 36 (9), 955-957, 2004
11112004
Heart rate variability
C van Ravenswaaij-Arts, LAA Kollee, JCW Hopman, G Stoelinga, ...
Annals of Internal Medicine 118 (6), 436-447, 1993
10471993
Diagnostic genome profiling in mental retardation
BBA De Vries, R Pfundt, M Leisink, DA Koolen, LELM Vissers, IM Janssen, ...
The American Journal of Human Genetics 77 (4), 606-616, 2005
6222005
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities
LELM Vissers, BBA de Vries, K Osoegawa, IM Janssen, T Feuth, CO Choy, ...
The American Journal of Human Genetics 73 (6), 1261-1270, 2003
5022003
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene
MCJ Jongmans, RJ Admiraal, KP Van Der Donk, L Vissers, AF Baas, ...
Journal of medical genetics 43 (4), 306-314, 2006
3772006
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)
RMW Hofstra, J Osinga, G Tan-Sindhunata, Y Wu, EJ Kamsteeg, RP Stulp, ...
Nature genetics 12 (4), 445-447, 1996
3531996
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux
CF Bartels, H Bükülmez, P Padayatti, DK Rhee, C van Ravenswaaij-Arts, ...
The American Journal of Human Genetics 75 (1), 27-34, 2004
3122004
Telomeres: a diagnosis at the end of the chromosomes
BBA De Vries, R Winter, A Schinzel, C van Ravenswaaij-Arts
Journal of medical genetics 40 (6), 385-398, 2003
3062003
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
BWM Van Bon, HC Mefford, B Menten, DA Koolen, AJ Sharp, ...
Journal of medical genetics 46 (8), 511-523, 2009
2602009
High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization
JA Veltman, EFPM Schoenmakers, BH Eussen, I Janssen, G Merkx, ...
The American Journal of Human Genetics 70 (5), 1269-1276, 2002
2582002
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
M Auer-Grumbach, A Olschewski, L Papić, H Kremer, ME McEntagart, ...
Nature genetics 42 (2), 160-164, 2010
2282010
CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype
JEH Bergman, N Janssen, LH Hoefsloot, MCJ Jongmans, RMW Hofstra, ...
Journal of medical genetics 48 (5), 334-342, 2011
2172011
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
JB Rivičre, BWM Van Bon, A Hoischen, SS Kholmanskikh, BJ O'Roak, ...
Nature genetics 44 (4), 440, 2012
2152012
Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)
DA Koolen, WM Nillesen, MHA Versteeg, GFM Merkx, N Knoers, M Kets, ...
Journal of medical genetics 41 (12), 892-899, 2004
2012004
CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome
MCJ Jongmans, CMA Van Ravenswaaij‐Arts, N Pitteloud, T Ogata, ...
Clinical genetics 75 (1), 65-71, 2009
1972009
Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome
KM Lower, G Turner, BA Kerr, KD Mathews, MA Shaw, ÁK Gedeon, ...
Nature genetics 32 (4), 661-665, 2002
1852002
Mutation update on the CHD7 gene involved in CHARGE syndrome
N Janssen, JEH Bergman, MA Swertz, L Tranebjaerg, M Lodahl, ...
Human mutation 33 (8), 1149-1160, 2012
1812012
Guidelines for molecular karyotyping in constitutional genetic diagnosis
JR Vermeesch, H Fiegler, N De Leeuw, K Szuhai, J Schoumans, ...
European Journal of Human Genetics 15 (11), 1105-1114, 2007
1732007
Nine patients with a microdeletion 15q11. 2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances
M Doornbos, B Sikkema-Raddatz, CAL Ruijvenkamp, T Dijkhuizen, ...
European journal of medical genetics 52 (2-3), 108-115, 2009
1592009
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ...
Nature genetics 49 (1), 36-45, 2017
1552017
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