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Results: 26-50/115
Authors:
Witters, I
Legius, E
Moerman, P
Deprest, J
Van Schoubroeck, D
Timmerman, D
Van Assche, FA
Fryns, JP
Citation: I. Witters et al., Associated malformations and chromosomal anomalies in 42 cases of prenatally diagnosed diaphragmatic hernia, AM J MED G, 103(4), 2001, pp. 278-282
Authors:
Peeters, H
Debeer, P
Groenen, P
Van Esch, H
Vanderlinden, G
Eyskens, B
Mertens, L
Gewillig, M
Van de Ven, W
Fryns, JP
Devriendt, K
Citation: H. Peeters et al., Brief clinical report - Recurrent involvement of chromosomal region 6q21 in heterotaxy, AM J MED G, 103(1), 2001, pp. 44-47
Authors:
Fryns, JP
Moerman, P
Citation: Jp. Fryns et P. Moerman, Popliteal pterygium and multiple pterygium syndromes, AM J MED G, 100(1), 2001, pp. 81-81
Authors:
Syrrou, M
Fryns, JP
Citation: M. Syrrou et Jp. Fryns, Interstitial deletion of chromosome 11 (q22.3-q23.2) in a boy with mild developmental delay, J MED GENET, 38(9), 2001, pp. 621-624
Authors:
Witters, I
Legius, E
Devriendt, K
Moerman, P
Van Schoubroeck, D
Van Assche, A
Fryns, JP
Citation: I. Witters et al., Pregnancy outcome and long term prognosis in 868 children born after second trimester amniocentesis for maternal serum positive triple test screeningand normal prenatal karyotype, J MED GENET, 38(5), 2001, pp. 336-338
Authors:
Casteels, I
Devriendt, K
Leys, A
Van Cleynenbreugel, H
Demaerel, P
De Tavernier, F
Fryns, JP
Citation: I. Casteels et al., Autosomal dominant microcephaly-lymphoedema-chorioretinal dysplasia syndrome, BR J OPHTH, 85(4), 2001, pp. 499-500
Authors:
de Ravel, TJL
Matthijs, G
Fryns, JP
Citation: Tjl. De Ravel et al., An unbalanced translocation 46,XX,+der(18)t(18;21)(q12.2;q11.2)mat,-21 associated with maternal isodisomy 18pter -> 18q12.2, ANN GENET, 44(2), 2001, pp. 63-66
Authors:
Frints, SGM
Fryns, JP
Lagae, L
Syrrou, M
Marynen, P
Devriendt, K
Citation: Sgm. Frints et al., Xp22.3;Yq11.2 chromosome translocation and its clinical manifestations, ANN GENET, 44(2), 2001, pp. 71-76
Authors:
Van Buggenhout, GJCM
van Ravenswaaij-Arts, C
Mieloo, H
Syrrou, M
Hamel, B
Brunner, H
Fryns, JP
Citation: Gjcm. Van Buggenhout et al., Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients, ANN GENET, 44(2), 2001, pp. 89-92
Authors:
Van Buggenhout, GJCM
Trommelen, JCM
Brunner, HG
Hamel, BCJ
Fryns, JP
Citation: Gjcm. Van Buggenhout et al., The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR), ANN GENET, 44(1), 2001, pp. 47-55
Authors:
van Bokhoven, H
Hamel, BCJ
Bamshad, M
Sangiorgi, E
Gurrieri, F
Duijf, PHG
Vanmolkot, KRJ
van Beusekom, E
van Beersum, SEC
Celli, J
Merkx, GFM
Tenconi, R
Fryns, JP
Verloes, A
Newbury-Ecob, RA
Raas-Rotschild, A
Majewski, F
Beemer, FA
Janecke, A
Chitayat, D
Crisponi, G
Kayserili, H
Yates, JRW
Neri, G
Brunner, HG
Citation: H. Van Bokhoven et al., p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation, AM J HU GEN, 69(3), 2001, pp. 481-492
Authors:
Kutsche, K
Yntema, H
Brandt, A
Jantke, I
Nothwang, HG
Orth, U
Boavida, MG
David, D
Chelly, J
Fryns, JP
Moraine, C
Ropers, HH
Hamel, BCJ
van Bokhoven, H
Gal, A
Citation: K. Kutsche et al., Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation, NAT GENET, 26(2), 2000, pp. 247-250
Authors:
Zemni, R
Bienvenu, T
Vinet, MC
Sefiani, A
Carrie, A
Billuart, P
McDonell, N
Couvert, P
Francis, F
Chafey, P
Fauchereau, F
Friocourt, G
des Portes, V
Cardona, A
Frints, S
Meindl, A
Brandau, O
Ronce, N
Moraine, C
van Bokhoven, H
Ropers, HH
Sudbrak, R
Kahn, A
Fryns, JP
Beldjord, R
Chelly, J
Citation: R. Zemni et al., A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation, NAT GENET, 24(2), 2000, pp. 167-170
Authors:
Debeer, P
Schoenmakers, EFPM
Thoelen, R
Holvoet, M
Kuittinen, T
Fabry, G
Fryns, JP
Goodman, FR
Van de Ven, WJM
Citation: P. Debeer et al., Physical map of a 1.5 Mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint, EUR J HUM G, 8(8), 2000, pp. 561-570
Authors:
Goossens, E
Steyaert, J
De Die-Smulders, C
Willekens, D
Fryns, JP
Citation: E. Goossens et al., Emotional and behavioral profile and child psychiatric diagnosis in the childhood type of myotonic dystrophy, GEN COUNSEL, 11(4), 2000, pp. 317-327
Authors:
Van Buggenhout, GJCM
Descheemaeker, MJ
Thiry, P
Trommelen, JCM
Hamel, BCJ
Fryns, JP
Citation: Gjcm. Van Buggenhout et al., Angelman syndrome in three adult patients with atypical presentation and severe neurological complications, GEN COUNSEL, 11(4), 2000, pp. 363-373
Authors:
Witters, I
Van Ranst, M
Fryns, JP
Citation: I. Witters et al., Cytomegalovirus reactivation in pregnancy and subsequent isolated bilateral hearing loss in the infant, GEN COUNSEL, 11(4), 2000, pp. 375-378
Authors:
Fryns, JP
Citation: Jp. Fryns, MCA/MR syndrome with severe pre- and postnatal growth retardation, deep mental retardation, distinct facial appearance with nasal hypoplasia, cleft palate and retino-choroidal coloboma in two unrelated female patients, GEN COUNSEL, 11(4), 2000, pp. 399-402
Authors:
Witters, I
Moerman, P
Fryns, JP
Citation: I. Witters et al., Prenatal echographic diagnosis of laryngeal atresia as part of a multiple congenital anomalies (MCA) syndrome, GEN COUNSEL, 11(3), 2000, pp. 215-219
Authors:
Vantrappen, G
Feenstra, L
Fryns, JP
Citation: G. Vantrappen et al., Conductive hearing loss and multiple pre- and supra-auricular skin defects: a variant example of the branchio-oculo-facial syndrome, GEN COUNSEL, 11(3), 2000, pp. 273-276
Authors:
Fryns, JP
Citation: Jp. Fryns, Hypersplenism and portal hypertension with vena porta thrombosis in cartilage-hair hypoplasia (metaphyseal chondrodysplasia, McKusick type, MIM250250), GEN COUNSEL, 11(3), 2000, pp. 277-278
Authors:
Fryns, JP
Citation: Jp. Fryns, Penile Agenesis as an isolated malformation: a rare example of sexual ambiguity at birth, GEN COUNSEL, 11(3), 2000, pp. 279-280
Authors:
Willekens, D
De Cock, P
Fryns, JP
Citation: D. Willekens et al., Three young children with Smith-Magenis syndrome: Their distinct, recognisable behavioural phenotype as the most important clinical symptoms, GEN COUNSEL, 11(2), 2000, pp. 103-110
Authors:
Garavelli, L
Donadio, A
Banchini, G
Magnani, C
Magnani, C
Calzolari, E
Fryns, JP
Citation: L. Garavelli et al., Marden-Walker syndrome: Case report, nosologic discussion and aspects of counseling, GEN COUNSEL, 11(2), 2000, pp. 111-118
Authors:
Lukusa, T
Fryns, JP
Citation: T. Lukusa et Jp. Fryns, Pure distal monosomy 10q26 in a patient displaying clinical features of Prader-Willi syndrome during infancy and distinct behavioural phenotype in adolescence, GEN COUNSEL, 11(2), 2000, pp. 119-126