geert mortier
geert mortier
Universiteit Antwerpen
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qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data
J Hellemans, G Mortier, A De Paepe, F Speleman, J Vandesompele
Genome biology 8 (2), 1-14, 2007
Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes
HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ...
New England Journal of Medicine 359 (16), 1685-1699, 2008
Nosology and classification of genetic skeletal disorders: 2010 revision
ML Warman, V Cormier‐Daire, C Hall, D Krakow, R Lachman, M LeMerrer, ...
American journal of medical genetics Part A 155 (5), 943-968, 2011
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
A Hoischen, BWM van Bon, C Gilissen, P Arts, B van Lier, M Steehouwer, ...
Nature genetics 42 (6), 483, 2010
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene
MD Briggs, SMG Hoffman, LM King, AS Olsen, H Mohrenweiser, JG Leroy, ...
Nature genetics 10 (3), 330-336, 1995
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
LM Messiaen, T Callens, G Mortier, D Beysen, I Vandenbroucke, ...
Human mutation 15 (6), 541-555, 2000
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
MA Deardorff, M Bando, R Nakato, E Watrin, T Itoh, M Minamino, K Saitoh, ...
Nature 489 (7415), 313-317, 2012
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
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis
J Hellemans, O Preobrazhenska, A Willaert, P Debeer, PCM Verdonk, ...
Nature genetics 36 (11), 1213-1218, 2004
Nosology and classification of genetic skeletal disorders: 2015 revision
L Bonafe, V Cormier‐Daire, C Hall, R Lachman, G Mortier, S Mundlos, ...
American journal of medical genetics Part A 167 (12), 2869-2892, 2015
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
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm
ME Lindsay, D Schepers, NA Bolar, JJ Doyle, E Gallo, J Fert-Bober, ...
Nature genetics 44 (8), 922-927, 2012
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa
B Loeys, L Van Maldergem, G Mortier, P Coucke, S Gerniers, ...
Human molecular genetics 11 (18), 2113-2118, 2002
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
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia …
F Pasutto, H Sticht, G Hammersen, G Gillessen-Kaesbach, DR FitzPatrick, ...
The American Journal of Human Genetics 80 (3), 550-560, 2007
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
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
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm
AJ Doyle, JJ Doyle, SL Bessling, S Maragh, ME Lindsay, D Schepers, ...
Nature genetics 44 (11), 1249-1254, 2012
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses
W Wuyts, W Van Hul, K De Boulle, J Hendrickx, E Bakker, ...
The American Journal of Human Genetics 62 (2), 346-354, 1998
Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia
KL Chapman, GR Mortier, K Chapman, J Loughlin, ME Grant, MD Briggs
Nature genetics 28 (4), 393-396, 2001
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