devriendt
devriendt
professor in genetics leuven
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GATA3 haplo-insufficiency causes human HDR syndrome
H Van Esch, P Groenen, MA Nesbit, S Schuffenhauer, P Lichtner, ...
Nature 406 (6794), 419-422, 2000
5122000
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of …
B Menten, N Maas, B Thienpont, K Buysse, J Vandesompele, C Melotte, ...
Journal of medical genetics 43 (8), 625-633, 2006
4352006
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia
A Irrthum, K Devriendt, D Chitayat, G Matthijs, C Glade, PM Steijlen, ...
The American Journal of Human Genetics 72 (6), 1470-1478, 2003
4172003
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia
K Devriendt, AS Kim, G Mathijs, SGM Frints, M Schwartz, JJ Van den Oord, ...
Nature genetics 27 (3), 313-317, 2001
4102001
Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS.
A Swillen, K Devriendt, E Legius, B Eyskens, M Dumoulin, M Gewillig, ...
Journal of Medical Genetics 34 (6), 453-458, 1997
3721997
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism
A Rauch, CT Thiel, D Schindler, U Wick, YJ Crow, AB Ekici, AJ Van Essen, ...
Science 319 (5864), 816-819, 2008
3712008
The annual incidence of DiGeorge/velocardiofacial syndrome.
K Devriendt, JP Fryns, G Mortier, MN Van Thienen, K Keymolen
Journal of medical genetics 35 (9), 789, 1998
3531998
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ...
American journal of medical genetics Part A 167 (2), 296-312, 2015
2932015
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation
E De Baere, MJ Dixon, KW Small, EW Jabs, BP Leroy, K Devriendt, ...
Human molecular genetics 10 (15), 1591-1600, 2001
2812001
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease
R Soemedi, IJ Wilson, J Bentham, R Darlay, A Töpf, D Zelenika, ...
The American Journal of Human Genetics 91 (3), 489-501, 2012
2392012
Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure
K Devriendt, C Vanhole, G Matthijs, F de Zegher
New England Journal of Medicine 338 (18), 1317-1318, 1998
2371998
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III
HJ Lüdecke, J Schaper, P Meinecke, P Momeni, S Groß, D Von Holtum, ...
The American Journal of Human Genetics 68 (1), 81-91, 2001
2172001
The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence.
A Swillen, K Devriendt, E Legius, P Prinzie, A Vogels, P Ghesquière, ...
Genetic counseling (Geneva, Switzerland) 10 (1), 79, 1999
2131999
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability
T Kleefstra, JM Kramer, K Neveling, MH Willemsen, TS Koemans, ...
The American Journal of Human Genetics 91 (1), 73-82, 2012
1902012
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
JKJ Van Houdt, BA Nowakowska, SB Sousa, BDC Van Schaik, ...
Nature genetics 44 (4), 445-449, 2012
1882012
Chromosome 22q11 deletion syndrome: Update and review of the clinical features, cognitive‐behavioral spectrum, and psychiatric complications
A Swillen, A Vogels, K Devriendt, JP Fryns
American journal of medical genetics 97 (2), 128-135, 2000
1882000
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections
AM Bertoli-Avella, E Gillis, H Morisaki, JMA Verhagen, BM De Graaf, ...
Journal of the American College of Cardiology 65 (13), 1324-1336, 2015
1832015
Cellular consequences of HERG mutations in the long QT syndrome: precursors to sudden cardiac death
CE Clancy, Y Rudy
Cardiovascular research 50 (2), 301-313, 2001
1822001
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
T Roscioli, EJ Kamsteeg, K Buysse, I Maystadt, J van Reeuwijk, ...
Nature genetics 44 (5), 581-585, 2012
1802012
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
H Hu, SA Haas, J Chelly, H Van Esch, M Raynaud, APM De Brouwer, ...
Molecular psychiatry 21 (1), 133-148, 2016
1772016
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Artikelen 1–20