Suivre
Arie van Haeringen
Arie van Haeringen
clinical geneticist, Leiden University Medical Center
Adresse e-mail validée de lumc.nl
Titre
Citée par
Citée par
Année
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
J Celli, P Duijf, BCJ Hamel, M Bamshad, B Kramer, APT Smits, ...
Cell 99 (2), 143-153, 1999
8551999
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
HAF Stessman, B Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ...
Nature genetics 49 (4), 515, 2017
5132017
Hay–Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63
JA McGrath, PHG Duijf, V Doetsch, AD Irvine, R Waal, KRJ Vanmolkot, ...
Human molecular genetics 10 (3), 221-230, 2001
4582001
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
GWE Santen, E Aten, Y Sun, R Almomani, C Gilissen, M Nielsen, SG Kant, ...
Nature genetics 44 (4), 379, 2012
3912012
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
JG Dauwerse, J Dixon, S Seland, CAL Ruivenkamp, A van Haeringen, ...
Nature genetics 43 (1), 20, 2011
3912011
Germline deletion of the miR-17∼ 92 cluster causes skeletal and growth defects in humans
L de Pontual, E Yao, P Callier, L Faivre, V Drouin, S Cariou, ...
Nature genetics 43 (10), 1026, 2011
3582011
WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to the Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region …
I Stec, TJ Wright, CJB van Ommen, PAJ de Boer, A van Haeringen, ...
HUMAN MOLECULAR GENETICS 7 (9), 1527-1528, 1998
3531998
WHSC1, a 90 kb SET Domain-Containing Gene, Expressed in Early Development and Homologous to a Drosophila Dysmorphy Gene Maps in the Wolf-Hirschhorn Syndrome …
I Stec, TJ Wright, GJB van Ommen, PAJ de Boer, A van Haeringen, ...
Human molecular genetics 7 (7), 1071-1082, 1998
3501998
Extending the phenotype of recurrent rearrangements of 16p11. 2: deletions in mentally retarded patients without autism and in normal individuals
EK Bijlsma, ACJ Gijsbers, JHM Schuurs-Hoeijmakers, A Van Haeringen, ...
European journal of medical genetics 52 (2), 77-87, 2009
3072009
Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents
C Rosenberg, J Knijnenburg, E Bakker, AM Vianna-Morgante, W Sloos, ...
Journal of medical genetics 43 (2), 180-186, 2006
2662006
Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms
WP Kloosterman, M Tavakoli-Yaraki, MJ van Roosmalen, ...
Cell reports 1 (6), 648-655, 2012
2302012
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid
K Laue, HM Pogoda, PB Daniel, A van Haeringen, Y Alanay, S von Ameln, ...
The American Journal of Human Genetics 89 (5), 595-606, 2011
1872011
Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience
ZA Bhuiyan, M Klein, P Hammond, A van Haeringen, MMAM Mannens, ...
Journal of medical genetics 43 (7), 568-575, 2006
1782006
MLL2 mutation spectrum in 45 patients with Kabuki syndrome
ADC Paulussen, A Stegmann, MJ Blok, D Tserpelis, C Posma‐Velter, ...
Human mutation 32 (2), 2011
1562011
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
S Küry, GM van Woerden, T Besnard, MP Onori, X Latypova, MC Towne, ...
The American Journal of Human Genetics 101 (5), 768-788, 2017
1452017
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome
V Malan, D Rajan, S Thomas, AC Shaw, HL dit Picard, V Layet, M Till, ...
The American Journal of Human Genetics 87 (2), 189-198, 2010
1452010
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations
F Petrij, HG Dauwerse, RI Blough, RH Giles, JJ van der Smagt, ...
Journal of medical genetics 37 (3), 168-176, 2000
1422000
YY1 Haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction
M Gabriele, AT Vulto-van Silfhout, PL Germain, A Vitriolo, R Kumar, ...
The American Journal of Human Genetics 100 (6), 907-925, 2017
1352017
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
F Béna, DL Bruno, M Eriksson, C van Ravenswaaij‐Arts, Z Stark, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 162 …, 2013
1302013
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
A Van Dijck, AT Vulto-van Silfhout, E Cappuyns, IM van der Werf, ...
Biological psychiatry, 2018
1292018
Le système ne peut pas réaliser cette opération maintenant. Veuillez réessayer plus tard.
Articles 1–20