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Results: 1-25/115
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:
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
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, EUR J HUM G, 9(3), 2001, pp. 209-216
Authors:
Lukusa, T
Willekens, D
Lukusa, N
De Cock, P
Fryns, JP
Citation: T. Lukusa et al., Terminal 6q25.3 deletion and abnormal behaviour, GEN COUNSEL, 12(3), 2001, pp. 213-221
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:
Moog, U
De Die-Smulders, CEM
Schrander-Stumpel, CTRM
Engelen, JJM
Hamers, AJH
Frints, S
Fryns, JP
Citation: U. Moog et al., Holoprosencephaly: The Maastricht experience, GEN COUNSEL, 12(3), 2001, pp. 287-298
Authors:
de Die-Smulders, CEM
Moog, U
Engelen, JJM
Peters, JJM
Damen, A
Vos, W
Fryns, JP
Citation: Cem. De Die-smulders et al., Lateral facial clefts: A case report, GEN COUNSEL, 12(2), 2001, pp. 163-165
Authors:
Fryns, JP
Witters, I
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
Authors:
Marcelis, C
Schrander-Stumpel, C
Engelen, J
Schoonbrood-Lenssen, A
Willemse, A
Beemer, F
Sigaudy, S
Missirian, C
Philip, N
Fryns, JP
Citation: C. Marcelis et al., Wolf-Hirschhorn (4p) syndrome in adults, GEN COUNSEL, 12(1), 2001, pp. 35-48
Authors:
Smeets, E
Vandenbossche, L
Fryns, JP
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
Authors:
Witters, I
Moerman, P
Van Assche, FA
Fryns, JP
Citation: I. Witters et al., Cystic hygroma colli as the first echographic sign of the fetal akinesia sequence, GEN COUNSEL, 12(1), 2001, pp. 91-94
Authors:
Fryns, JP
Citation: Jp. Fryns, Micro-ablepharon of the upper eyelids and vaginal atresia, GEN COUNSEL, 12(1), 2001, pp. 101-102
Authors:
Fryns, JP
De Cock, P
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
Sex chromosome Pentasomy (49,XXXXY) presenting with generalized oedema andhypogenitalism at 12 weeks
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
Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor
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
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
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
Authors:
Goffin, A
Hoefsloot, LH
Bosgoed, E
Swillen, A
Fryns, JP
Citation: A. Goffin et al., PTEN mutation in a family with Cowden syndrome and autism, AM J MED G, 105(6), 2001, pp. 521-524
Authors:
Syrrou, M
Borghgraef, M
Fryns, JP
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