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Results: 1-25/50
Authors:
Van Esch, H
Devriendt, K
Citation: H. Van Esch et K. Devriendt, Transcription factor GATA3 and the human HDR syndrome, CELL MOL L, 58(9), 2001, pp. 1296-1300
Authors:
Devriendt, K
Kim, AS
Mathijs, G
Frints, SGM
Schwartz, M
Van den Oord, JJ
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:
Genuardi, M
Klutz, M
Devriendt, K
Caruso, D
Stirpe, M
Lohmann, DR
Citation: M. Genuardi et al., Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma, EUR J HUM G, 9(9), 2001, pp. 690-694
Authors:
De Smet, L
Devriendt, K
Fryns, JP
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
Authors:
De Baere, E
Dixon, MJ
Small, KW
Jabs, EW
Leroy, BP
Devriendt, K
Gillerot, Y
Mortier, G
Meire, F
Van Maldergem, L
Courtens, W
Hjalgrim, H
Huang, S
Liebaers, I
Van Regemorter, N
Touraine, P
Praphanphoj, V
Verloes, A
Udar, N
Yellore, V
Chalukya, M
Yelchits, S
De Paepe, A
Kuttenn, F
Fellous, M
Veitia, R
Messiaen, L
Citation: E. De Baere et al., Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation, HUM MOL GEN, 10(15), 2001, pp. 1591-1600
Authors:
Naulaers, G
Devriendt, K
Moerman, P
Gillis, P
Vanhole, C
Devlieger, H
Citation: G. Naulaers et al., Aneurysm of the ductus arteriosus in a neonate with 13q-deletion, AM J PERIN, 18(1), 2001, pp. 11-14
Authors:
Andreu, N
Escarceller, M
Feather, S
Devriendt, K
Wolf, AS
Estivill, X
Sumoy, L
Citation: N. Andreu et al., PALML, a novel paralemmin-related gene mapping on human chromosome 1p21, GENE, 278(1-2), 2001, pp. 33-40
Authors:
Knight, SW
Vulliamy, TJ
Morgan, B
Devriendt, K
Mason, PJ
Dokal, I
Citation: Sw. Knight et al., Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis, HUM GENET, 108(4), 2001, pp. 299-303
Authors:
Witters, I
Moerman, P
Muenke, M
Van Assche, FA
Devriendt, K
Legius, E
Van Schoubroeck, D
Fryns, JP
Citation: I. Witters et al., Semilobar holoprosencephaly in a 46,XY female fetus, PRENAT DIAG, 21(10), 2001, pp. 839-841
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
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:
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:
Freson, K
Devriendt, K
Matthijs, G
Van Hoof, A
De Vos, R
Thys, C
Minner, K
Hoylaerts, MF
Vermylen, J
Van Geet, C
Citation: K. Freson et al., Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation, BLOOD, 98(1), 2001, pp. 85-92
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:
Ludecke, HJ
Schaper, J
Meinecke, P
Momeni, P
Gross, S
von Holtum, D
Hirche, H
Abramowicz, MJ
Albrecht, B
Apacik, C
Christen, HJ
Claussen, U
Devriendt, K
Fastnacht, E
Forderer, A
Friedrich, U
Goodship, THJ
Greiwe, M
Hamm, H
Hennekam, RCM
Hinkel, GK
Hoeltzenbein, M
Kayserili, H
Majewski, F
Mathieu, M
McLeod, R
Midro, AT
Moog, U
Nagai, T
Niikawa, N
Orstavik, KH
Plochl, E
Seitz, C
Schmidtke, J
Tranebjaerg, L
Tsukahara, M
Wittwer, B
Zabel, B
Gillessen-Kaesbach, G
Horsthemke, B
Citation: Hj. Ludecke et al., Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III, AM J HU GEN, 68(1), 2001, pp. 81-91
Authors:
Fryns, JP
Devriendt, K
Citation: Jp. Fryns et K. Devriendt, On the nosology of van der Woude syndrome and Popliteal Pterygium syndrome: Implications for genetic counseling, GEN COUNSEL, 11(1), 2000, pp. 59-60
Authors:
Devriendt, K
Keymolen, K
Roelen, L
Van Goethem, G
Meireleire, J
Fryns, JP
Citation: K. Devriendt et al., Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism, CLIN DYSMOR, 9(2), 2000, pp. 111-114
Authors:
Urban, Z
Michels, VV
Thibodeau, SN
Davis, EC
Bonnefont, JP
Munnich, A
Eyskens, B
Gewillig, M
Devriendt, K
Boyd, CD
Citation: Z. Urban et al., Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay, HUM GENET, 106(6), 2000, pp. 577-588
Authors:
Devriendt, K
Citation: K. Devriendt, Genetic control of intra-uterine growth, EUR J OB GY, 92(1), 2000, pp. 29-34
Authors:
Leys, A
Gilbert, HD
Van de Sompel, W
Verougstraete, C
Devriendt, K
Lagae, L
Gass, JDM
Citation: A. Leys et al., Familial spastic paraplegia and maculopathy with juxtafoveolar retinal telangiectasis and subretinal neovascularization, RETINA, 20(2), 2000, pp. 184-189
Authors:
Chen, CP
Devriendt, K
Chern, SR
Lee, CC
Wang, WS
Lin, SP
Citation: Cp. Chen et al., Prenatal diagnosis of inherited satellited non-acrocentric chromosomes, PRENAT DIAG, 20(5), 2000, pp. 384-389
Authors:
Witters, I
Devriendt, K
Moerman, P
van Hole, C
Fryns, JP
Citation: I. Witters et al., Diaphragmatic hernia as the first echographic sign in Apert syndrome, PRENAT DIAG, 20(5), 2000, pp. 404-406
Authors:
Swillen, A
Vogels, A
Devriendt, K
Fryns, JP
Citation: A. Swillen et al., Chromosome 22q11 deletion syndrome: Update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications, AM J MED G, 97(2), 2000, pp. 128-135
Authors:
Claes, S
Devriendt, K
Van Goethem, G
Roelen, L
Meireleire, J
Raeymaekers, P
Cassiman, JJ
Fryns, JP
Citation: S. Claes et al., Novel syndromic form of X-linked complicated spastic paraplegia, AM J MED G, 94(1), 2000, pp. 1-4