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Devriendt, K
Kim, AS
Mathijs, G
Frints, SGM
Schwartz, M
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Verhoef, GEG
Boogaerts, MA
Fryns, JP
You, DQ
Rosen, MK
Vandenberghe, P
Citation: K. Devriendt et al., Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia, NAT GENET, 27(3), 2001, pp. 313-317
Authors:
Giannakudis, J
Ropke, A
Kujat, A
Krajewska-Walasek, M
Hughes, H
Fryns, JP
Bankier, A
Amor, D
Schlicker, M
Hansmann, I
Citation: J. Giannakudis et al., Parental mosaicism of JAG1 mutations in families with Alagille syndrome (vol 9, pg 209, 2001), EUR J HUM G, 9(7), 2001, pp. 559-559
Citation: L. De Smet et al., Further evidence for germinal mosaicism in cleft hand/cleft foot syndrome.Two affected halfsisters and normal father, GEN COUNSEL, 12(3), 2001, pp. 251-254
Citation: Jp. Fryns et I. Witters, Anophthalmia/microphtalmia associated with right lateral facial cleft/microtia, GEN COUNSEL, 12(2), 2001, pp. 177-178
Authors:
Van Buggenhout, GJCM
Trijbels, JMF
Wevers, R
Trommelen, JCM
Hamel, BCJ
Brunner, HG
Fryns, JP
Citation: Gjcm. Van Buggenhout et al., Metabolic studies in older mentally retarded patients: Significance of metabolic testing and correlation with the clinical phenotype, GEN COUNSEL, 12(1), 2001, pp. 1-21
Citation: E. Smeets et al., Partial distal trisomy 3p. A partial autosomal trisomy without major dysmorphic features, GEN COUNSEL, 12(1), 2001, pp. 85-89
Citation: Jp. Fryns et P. De Cock, MCA/MR syndrome with occipital scalp defect and valvular pulmonary stenosis: A cryptic 7pter duplication/18qter deficiency, GEN COUNSEL, 12(1), 2001, pp. 103-104
Authors:
Witters, I
Moerman, P
Braet, P
Van Schoubroeck, D
Fryns, JP
Citation: I. Witters et al., Sex chromosome Pentasomy (49,XXXXY) presenting with generalized oedema andhypogenitalism at 12 weeks, GEN COUNSEL, 12(1), 2001, pp. 105-106
Authors:
Couvert, P
Bienvenu, T
Aquaviva, C
Poirier, K
Moraine, C
Gendrot, C
Verloes, A
Andres, C
Le Fevre, AC
Souville, I
Steffann, J
des Portes, V
Ropers, HH
Yntema, HG
Fryns, JP
Briault, S
Chelly, J
Cherif, B
Citation: P. Couvert et al., MECP2 is highly mutated in X-linked mental retardation, HUM MOL GEN, 10(9), 2001, pp. 941-946
Authors:
Lopez-Correa, C
Dorschner, M
Brems, H
Lazaro, C
Clementi, M
Upadhyaya, M
Dooijes, D
Moog, U
Kehrer-Sawatzki, H
Rutkowski, JL
Fryns, JP
Marynen, P
Stephens, K
Legius, E
Citation: C. Lopez-correa et al., Recombination hotspot in NF1 microdeletion patients, HUM MOL GEN, 10(13), 2001, pp. 1387-1392
Authors:
de Ravel, TJL
Legius, E
Brems, H
Van Hoestenberghe, R
Gillis, P
Fryns, JP
Citation: Tjl. De Ravel et al., Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor, CLIN DYSMOR, 10(4), 2001, pp. 263-267
Authors:
Veugelers, M
De Cat, B
Delande, N
Esselens, C
Bonk, I
Vermeesch, J
Marynen, P
Fryns, JP
David, G
Citation: M. Veugelers et al., A 4-Mb BAC/PAC contig and complete genomic structure of the GPC5/GPC6 genecluster on chromosome 13q32, MATRIX BIOL, 20(5-6), 2001, pp. 375-385
Authors:
Witters, I
Theyskens, C
van Hoestenberghe, R
Sieprath, P
Gyselaers, W
Fryns, JP
Citation: I. Witters et al., Prenatal diagnosis of non-obstructive megacystis as part of the megacystis-microcolon-intestinal hypoperistalsis syndrome with favourable postnatal outcome, PRENAT DIAG, 21(8), 2001, pp. 704-706
Authors:
Witters, I
Schreurs, J
Van Wing, J
Wouters, W
Fryns, JP
Citation: I. Witters et al., Prenatal diagnosis of facial clefting as part of the oculo-auriculo-vertebral spectrum, PRENAT DIAG, 21(1), 2001, pp. 62-64
Citation: M. Syrrou et al., Unusual chromosomal mosaicism in Wolf-Hirschhorn syndrome: del(4)(p16)/der(4)(qter-q31.3 :: pter-qter), AM J MED G, 104(3), 2001, pp. 199-203
Authors:
Witters, I
Devriendt, K
Moerman, P
Caudron, J
Van Hole, C
Fryns, JP
Citation: I. Witters et al., Bilateral tibial agenesis with ectrodactyly (OMIM 119100): Further evidence for autosomal recessive inheritance, AM J MED G, 104(3), 2001, pp. 209-213