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Results: 26-50/50
Authors:
Weigell-Weber, M
Schinzel, A
Hergersberg, M
Citation: M. Weigell-weber et al., Hereditary hearing loss due to mutations in the connexin-26 gene, SCHW MED WO, 130(29-30), 2000, pp. 1072-1077
Authors:
Fokstuen, S
Schinzel, A
Citation: S. Fokstuen et A. Schinzel, Unilateral lobar pulmonary agenesis in sibs, J MED GENET, 37(7), 2000, pp. 557-559
Authors:
Kotzot, D
Martinez, MJ
Bagci, G
Basaran, S
Baumer, A
Binkert, F
Brecevic, L
Castellan, C
Chrzanowska, K
Dutly, F
Gutkowska, A
Karauzum, SB
Krajewska-Walasek, M
Luleci, G
Miny, P
Riegel, M
Schuffenhauer, S
Seidel, H
Schinzel, A
Citation: D. Kotzot et al., Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications, J MED GENET, 37(4), 2000, pp. 281-286
Authors:
Faber, J
Winterpacht, A
Zabel, B
Gnoinski, W
Schinzel, A
Steinmann, B
Superti-Furga, A
Citation: J. Faber et al., Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiencymutation: implications for genetic counselling, J MED GENET, 37(4), 2000, pp. 318-320
Authors:
Rothlisberger, B
Chrzanowska, K
Balmer, D
Riegel, M
Schinzel, A
Citation: B. Rothlisberger et al., A supernumerary marker chromosome originating from two different regions of chromosome 18, J MED GENET, 37(2), 2000, pp. 121-124
Authors:
Brecevic, L
Basaran, S
Dutly, F
Rothlisberger, B
Schinzel, A
Citation: L. Brecevic et al., Tandem triplication of chromosome 13q14 with inverted interstitial segmentin a 4 year old girl, J MED GENET, 37(12), 2000, pp. 964-967
Authors:
Kotzot, D
Lurie, IW
Mehes, K
Werder, E
Schinzel, A
Citation: D. Kotzot et al., No evidence of uniparental disomy 2, 6, 14, 16, 20, and 22 as a major cause of intrauterine growth retardation, CLIN GENET, 58(3), 2000, pp. 177-180
Authors:
Weigell-Weber, M
Fokstuen, S
Torok, B
Niemeyer, G
Schinzel, A
Hergersberg, M
Citation: M. Weigell-weber et al., Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p: Hot spots for mutations in autosomal dominant cone-rod dystrophy?, ARCH OPHTH, 118(2), 2000, pp. 300-300
Authors:
Rothlisberger, B
Kotzot, D
Brecevic, L
Koehler, M
Balmer, D
Binkert, F
Schinzel, A
Citation: B. Rothlisberger et al., Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes, EUR J HUM G, 7(8), 1999, pp. 873-883
Authors:
Baumer, A
Balmer, D
Schinzel, A
Citation: A. Baumer et al., Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria, HUM GENET, 105(6), 1999, pp. 598-602
Authors:
Kozlov, SV
Riegel, M
Kinter, J
Hintsch, G
Cinelli, P
Schinzel, A
Sonderegger, P
Citation: Sv. Kozlov et al., Assignment of the gene encoding the neuronal multidomain serine protease neurotrypsin (PRSS12) to human chromosome band 4q25 -> q26 by in situ hybridization, CYTOG C GEN, 84(1-2), 1999, pp. 107-108
Authors:
Balmer, D
Baumer, A
Rothlisberger, B
Schinzel, A
Citation: D. Balmer et al., Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta, PRENAT DIAG, 19(11), 1999, pp. 1061-1064
Authors:
Achermann, S
Largo, R
Kotzot, D
Riegel, M
Schinzel, A
Citation: S. Achermann et al., Short stature, myopia, severe developmental delay, and peculiar facial appearance in two brothers: A new syndrome?, AM J MED G, 86(5), 1999, pp. 486-491
Authors:
Wang, MS
Schinzel, A
Kotzot, D
Balmer, D
Casey, R
Chodirker, BN
Gyftodimou, J
Petersen, MB
Lopez-Rangel, E
Robinson, WP
Citation: Ms. Wang et al., Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affectingclinical outcome, AM J MED G, 86(1), 1999, pp. 34-43
Authors:
Rothlisberger, B
Kotzot, D
Gnehm, HE
Schinzel, A
Citation: B. Rothlisberger et al., "Essentially pure" partial trisomy (6)(p23 -> pter) in two brothers due tomaternal t(6;17)(p23;p13.3), AM J MED G, 85(4), 1999, pp. 389-394
Authors:
Riegel, M
Castellan, C
Balmer, D
Brecevic, L
Schinzel, A
Citation: M. Riegel et al., Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes, AM J MED G, 82(3), 1999, pp. 249-253
Authors:
Schinzel, A
Citation: A. Schinzel, The Mahler measure of polynomials, LECT N PURE, 204, 1999, pp. 171-183
Authors:
Schinzel, A
Citation: A. Schinzel, Reducibility of lacunary polynomials XII, ACT ARITH, 90(3), 1999, pp. 273-289
Authors:
Fokstuen, S
Ginsburg, C
Zachmann, M
Schinzel, A
Citation: S. Fokstuen et al., Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty, J PEDIAT, 134(6), 1999, pp. 689-695
Authors:
Schinzel, A
Urbanowicz, J
Van Wamelen, P
Citation: A. Schinzel et al., Class numbers and short sums of Kronecker symbols, J NUMBER TH, 78(1), 1999, pp. 62-84
Ectopic NORs on human chromosomes 4qter and 8q11: rare chromosomal variants detected in two families
Authors:
Guttenbach, M
Haaf, T
Steinlein, C
Caesar, J
Schinzel, A
Schmid, M
Citation: M. Guttenbach et al., Ectopic NORs on human chromosomes 4qter and 8q11: rare chromosomal variants detected in two families, J MED GENET, 36(4), 1999, pp. 339-342
Authors:
Utkus, A
Sorokina, I
Kucinskas, V
Rothlisberger, B
Balmer, D
Brecevic, L
Schinzel, A
Citation: A. Utkus et al., Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1), J MED GENET, 36(1), 1999, pp. 73-76
Authors:
Bamshad, M
Le, T
Watkins, WS
Dixon, ME
Kramer, BE
Roeder, AD
Carey, JC
Root, S
Schinzel, A
Van Maldergem, L
Gardner, RJM
Lin, RC
Seidman, CE
Seidman, JG
Wallerstein, R
Moran, E
Sutphen, R
Campbell, CE
Jorde, LB
Citation: M. Bamshad et al., The spectrum of mutations in TBX3: Genotype phenotype relationship in ulnar-mammary syndrome, AM J HU GEN, 64(6), 1999, pp. 1550-1562
Authors:
Brewer, C
Holloway, S
Zawalnyski, P
Schinzel, A
FitzPatrick, D
Citation: C. Brewer et al., A chromosomal duplication map of malformations: Regions of suspected haplo- and triplolethality - and tolerance of segmental aneuploidy - in humans, AM J HU GEN, 64(6), 1999, pp. 1702-1708
Authors:
Jacquot, S
Merienne, K
Pannetier, S
Blumenfeld, S
Schinzel, A
Hanauer, A
Citation: S. Jacquot et al., Germline mosaicism in Coffin-Lowry syndrome, EUR J HUM G, 6(6), 1998, pp. 578-582