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Results: 1-22 |
Results: 22

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: 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 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: 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: Schollen, E Kjaergaard, S Legius, E Schwartz, M Matthijs, G
Citation: E. Schollen et al., Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation inCDG-Ia (congenital disorders of glycosylation type Ia), EUR J HUM G, 8(5), 2000, pp. 367-371

Authors: Decruyenaere, M Evers-Kiebooms, G Denayer, L Welkenhuysen, M Claes, E Legius, E Demyttenaere, K
Citation: M. Decruyenaere et al., Predictive testing for hereditary breast and ovarian cancer: a psychological framework for pre-test counselling, EUR J HUM G, 8(2), 2000, pp. 130-136

Authors: Wu, R Legius, E
Citation: R. Wu et E. Legius, Four new DNA variants in the NF1 coding region, GEN COUNSEL, 11(2), 2000, pp. 175-178

Authors: Veugelers, M De Cat, B Muyldermans, SY Reekmans, G Delande, N Frints, S Legius, E Fryns, JP Schrander-Stumpel, C Weidle, B Magdalena, N David, G
Citation: M. Veugelers et al., Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene, HUM MOL GEN, 9(9), 2000, pp. 1321-1328

Authors: Rutkowski, JL Wu, KS Gutmann, DH Boyer, PJ Legius, E
Citation: Jl. Rutkowski et al., Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1, HUM MOL GEN, 9(7), 2000, pp. 1059-1066

Authors: Kehrer-Sawatzki, H Moschgath, E Maier, C Legius, E Elgar, G Krone, W
Citation: H. Kehrer-sawatzki et al., Characterization of the Fugu rubripes NLK and FN5 genes flanking the NF1 (neurofibromatosis type 1) gene in the 5 ' direction and mapping of the human counterparts, GENE, 251(1), 2000, pp. 63-71

Authors: Hes, F Zewald, R Peeters, T Sijmons, R Links, T Verheij, J Matthijs, G Legius, E Mortier, G van der Torren, K Rosman, M Lips, C Pearson, P van der Luijt, R
Citation: F. Hes et al., Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene, HUM GENET, 106(4), 2000, pp. 425-431

Authors: Lopez-Correa, C Zucman-Rossi, J Brems, H Thomas, G Legius, E
Citation: C. Lopez-correa et al., NF2 gene deletion in a family with a mild phenotype, J MED GENET, 37(1), 2000, pp. 75-77

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: Correa, CL Brems, H Lazaro, C Marynen, P Legius, E
Citation: Cl. Correa et al., Unequal meiotic crossover: A frequent cause of NF1 microdeletions, AM J HU GEN, 66(6), 2000, pp. 1969-1974

Authors: Hurvitz, JR Suwairi, WM Van Hul, W El-Shanti, H Superti-Furga, A Roudier, J Holderbaum, D Pauli, RM Herd, JK Van Hul, E Rezai-Delui, H Legius, E Le Merrer, M Al-Alami, J Bahabri, SA Warman, ML
Citation: Jr. Hurvitz et al., Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia, NAT GENET, 23(1), 1999, pp. 94-98

Authors: Correa, CL Brems, H Lazaro, C Estivill, X Clementi, M Mason, S Rutkowski, JL Marynen, P Legius, E
Citation: Cl. Correa et al., Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions, HUM MUTAT, 14(5), 1999, pp. 387-393

Authors: Marie, S Cuppens, H Heuterspreute, M Jaspers, M Tola, EZ Gu, XX Legius, E Vincent, MF Jaeken, J Cassiman, JJ Van den Berghe, G
Citation: S. Marie et al., Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence, HUM MUTAT, 13(3), 1999, pp. 197-202

Authors: Wu, RN Lopez-Correa, C Rutkowski, JL Baumbach, LL Glover, TW Legius, E
Citation: Rn. Wu et al., Germline mutations in NF1 patients with malignancies, GENE CHROM, 26(4), 1999, pp. 376-380

Authors: Decruyenaere, M Evers-Kiebooms, G Claes, E Denayer, L Welkenhuysen, M Legius, E Demyttenaere, K
Citation: M. Decruyenaere et al., Psychosocial aspects of familial breast and ovarian cancer: Psychological guidelines for genetic testing, DIS MARKER, 15(1-3), 1999, pp. 152-153

Authors: Legius, E Vanderschueren, D Spiessens, C D'Hooghe, T Matthijs, G
Citation: E. Legius et al., Association between CAG repeat number in the androgen receptor and male infertility in a Belgian study, CLIN GENET, 56(2), 1999, pp. 166-167

Authors: Thielemans, BFJ Spiessens, C D'Hooghe, T Vanderschueren, D Legius, E
Citation: Bfj. Thielemans et al., Genetic abnormalities and male infertility. A comprehensive review., EUR J OB GY, 81(2), 1998, pp. 217-225
Risultati: 1-22 |