Conny van Ravenswaaij-Arts
Conny van Ravenswaaij-Arts
Professor in Dysmorphology, Department of Genetics, UMC Groningen, University of Groningen
Geverifieerd e-mailadres voor umcg.nl - Homepage
Titel
Geciteerd door
Geciteerd door
Jaar
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
10962004
Heart rate variability
C van Ravenswaaij-Arts, LAA Kollee, JCW Hopman, G Stoelinga, ...
Annals of Internal Medicine 118 (6), 436-447, 1993
10421993
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
6202005
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
5012003
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
3692006
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
3491996
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
3092004
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
3042003
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
2592009
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
2572002
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
2262010
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
JB Rivière, BWM Van Bon, A Hoischen, SS Kholmanskikh, BJ O'Roak, ...
Nature genetics 44 (4), 440, 2012
2112012
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
2072011
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
1962009
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
1842002
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
1792012
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
1702007
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
1572009
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
1442017
Het systeem kan de bewerking nu niet uitvoeren. Probeer het later opnieuw.
Artikelen 1–20