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Results: 76-100/115
Authors:
Van Esch, H
Groenen, P
Nesbit, MA
Schuffenhauer, S
Lichtner, P
Vanderlinden, G
Harding, B
Beetz, R
Bilous, RW
Holdaway, I
Shaw, NJ
Fryns, JP
Van de Ven, WV
Thakker, RV
Devriendt, K
Citation: H. Van Esch et al., GATA3 haplo-insufficiency causes human HDR syndrome, NATURE, 406(6794), 2000, pp. 419-422
Authors:
Fryns, JP
Aftimos, S
Citation: Jp. Fryns et S. Aftimos, New MR/MCA syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy, and pachygyria of the frontal lobes, J MED GENET, 37(6), 2000, pp. 460-462
Authors:
Schreurs, A
Legius, E
Meuleman, C
Fryns, JP
D'Hooghe, TM
Citation: A. Schreurs et al., Increased frequency of chromosomal abnormalities in female partners of couples undergoing in vitro fertilization or intracytoplasmic sperm injection, FERT STERIL, 74(1), 2000, pp. 94-96
Authors:
Devriendt, K
Holvoet, M
De Muelenaere, A
Fryns, JP
Citation: K. Devriendt et al., The Haspeslagh syndrome (MIM 177980) is caused by an unbalanced reciprocal6q/9p translocation, CLIN GENET, 57(1), 2000, pp. 83-85
Authors:
Vogels, A
Devriendt, K
Vermeesch, JR
Van Dael, R
Marynen, P
Dewaele, P
Hageman, J
Holvoet, M
Fryns, JP
Citation: A. Vogels et al., Cryptic translocation t(5;18) in familial mental retardation, ANN GENET, 43(3-4), 2000, pp. 117-123
Authors:
Jamieson, CR
Fryns, JP
Jacobs, J
Matthijs, G
Abramowicz, MJ
Citation: Cr. Jamieson et al., Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32, AM J HU GEN, 67(6), 2000, pp. 1575-1577
Authors:
Meloni, I
Bruttini, M
Longo, I
Mari, F
Rizzolio, F
D'Adamo, P
Denvriendt, K
Fryns, JP
Toniolo, D
Renieri, A
Citation: I. Meloni et al., A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males, AM J HU GEN, 67(4), 2000, pp. 982-985
Authors:
Goodman, FR
Bacchelli, C
Brady, AF
Brueton, LA
Fryns, JP
Mortlock, DP
Innis, JW
Holmes, LB
Donnenfeld, AE
Feingold, M
Beemer, FA
Hennekam, RCM
Scambler, PJ
Citation: Fr. Goodman et al., Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome, AM J HU GEN, 67(1), 2000, pp. 197-202
Authors:
Carrie, A
Jun, L
Bienvenu, T
Vinet, MC
McDonell, N
Couvert, P
Zemni, R
Cardona, A
Van Buggenhout, G
Frints, S
Hamel, B
Moraine, C
Ropers, HH
Strom, T
Howell, GR
Whittaker, A
Ross, MT
Kahn, A
Fryns, JP
Beldjord, C
Marynen, P
Chelly, J
Citation: A. Carrie et al., A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation, NAT GENET, 23(1), 1999, pp. 25-31
Authors:
Munroe, PB
Olgunturk, RO
Fryns, JP
Van Maldergem, L
Ziereisen, F
Yuksel, B
Gardiner, RM
Chung, E
Citation: Pb. Munroe et al., Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome, NAT GENET, 21(1), 1999, pp. 142-144
Authors:
Nelen, MR
Kremer, H
Konings, IBM
Schoute, F
van Essen, AJ
Koch, R
Woods, CG
Fryns, JP
Hamel, B
Hoefsloot, LH
Peeters, EAJ
Padberg, GW
Citation: Mr. Nelen et al., Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations, EUR J HUM G, 7(3), 1999, pp. 267-273
Authors:
De Paepe, A
Loeys, B
Devriendt, K
Fryns, JP
Citation: A. De Paepe et al., Occipital Horn syndrome in a 2-year-old boy, CLIN DYSMOR, 8(3), 1999, pp. 179-183
Authors:
Lukusa, T
Devriendt, K
Jaeken, J
Fryns, JP
Citation: T. Lukusa et al., Mild dysmorphic signs in two male sibs with partial trisomy 2q32.1 -> q35 due to maternal ins(14;2) translocation, CLIN DYSMOR, 8(1), 1999, pp. 47-51
Authors:
Yntema, HG
van den Helm, B
Kissing, J
van Duijnhoven, G
Poppelaars, F
Chelly, J
Moraine, C
Fryns, JP
Hamel, BCJ
Heilbronner, H
Pander, HJ
Brunner, HG
Ropers, HH
Cremers, FPM
van Bokhoven, H
Citation: Hg. Yntema et al., A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation, GENOMICS, 62(3), 1999, pp. 332-343
Authors:
van den Borne, HW
van Hooren, RH
van Gestel, M
Rienmeijer, P
Fryns, JP
Curfs, LMG
Citation: Hw. Van Den Borne et al., Psychosocial problems, coping strategies, and the need for information of parents of children with Prader-Willi syndrome and Angelman syndrome, PAT EDUC C, 38(3), 1999, pp. 205-216
Authors:
Vermeesch, JR
Duhamel, H
Petit, P
Falzetti, D
Fryns, JP
Marynen, P
Citation: Jr. Vermeesch et al., Multiple small accessory marker chromosomes from different centromeric origin in a moderately mentally retarded male, HUM GENET, 105(6), 1999, pp. 611-618
Authors:
des Portes, V
Beldjord, C
Chelly, J
Hamel, B
Kremer, H
Smits, A
van Bokhoven, H
Ropers, HH
Claes, S
Fryns, JP
Ronce, N
Gendrot, C
Toutain, A
Raynaud, M
Moraine, C
Citation: V. Des Portes et al., X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: The European XLMR Consortium, AM J MED G, 85(3), 1999, pp. 263-265
Authors:
Claes, S
Volcke, P
Devriendt, K
Holvoet, M
Raeymaekers, P
Cassiman, JJ
Fryns, JP
Citation: S. Claes et al., Regional localization of a gene for nonspecific XLMR to Xp11.3-p11.23 (MRX51) and tentative localization of an MRX gene to Xq23-q26.1, AM J MED G, 85(3), 1999, pp. 283-287
Authors:
Devriendt, K
Holvoet, M
Fryns, JP
Citation: K. Devriendt et al., Follow-up of an adult with Keutel syndrome, AM J MED G, 85(1), 1999, pp. 82-83
Authors:
Fisch, GS
Carpenter, N
Holden, JJA
Howard-Peebles, PN
Maddalena, A
Borghgraef, M
Steyaert, J
Fryns, JP
Citation: Gs. Fisch et al., Longitudinal changes in cognitive and adaptive behavior in fragile X females: A prospective multicenter analysis, AM J MED G, 83(4), 1999, pp. 308-312
Authors:
Fryns, JP
Citation: Jp. Fryns, On the nosology of severe acrofacial dysostosis with limb deficiency, AM J MED G, 82(3), 1999, pp. 282-282
Authors:
Devriendt, K
Fryns, JP
Moerman, P
Vanhole, C
Devlieger, H
Citation: K. Devriendt et al., Letter to the Editor - Heterogeneity in omphalocoele with absent radial ray complex, AM J MED G, 82(1), 1999, pp. 95-96
Authors:
Shashi, V
Pallos, D
Pettenati, MJ
Cortelli, JR
Fryns, JP
von Kap-Herr, C
Hart, TC
Citation: V. Shashi et al., Genetic heterogeneity of gingival fibromatosis on chromosome 2p, J MED GENET, 36(9), 1999, pp. 683-686
Authors:
Janssen, HCJP
Schaap, C
Vandevijver, N
Moerman, P
de Die-Smulders, CEM
Fryns, JP
Citation: Hcjp. Janssen et al., Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome?, J MED GENET, 36(6), 1999, pp. 481-484
Authors:
Stromme, P
Sundet, K
Mork, C
Cassiman, JJ
Fryns, JP
Claes, S
Citation: P. Stromme et al., X linked mental retardation and infantile spasms in a family: new clinicaldata and linkage to Xp 11.4-Xp22.11, J MED GENET, 36(5), 1999, pp. 374-378