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Results: 1-25/50
Authors:
Baumer, A
Wiedemann, U
Hergersberg, M
Schinzel, A
Citation: A. Baumer et al., A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicism, HUM MUTAT, 17(5), 2001, pp. 423-430
Authors:
Wirth, J
Back, E
Huttenhofer, A
Nothwang, HG
Lich, C
Gross, S
Menzel, C
Schinzel, A
Kioschis, P
Tommerup, N
Ropers, HH
Horsthemke, B
Buiting, K
Citation: J. Wirth et al., A translocation breakpoint cluster disrupts the newly defined 3 ' end of the SNURF-SNRPN transcription unit on chromosome 15, HUM MOL GEN, 10(3), 2001, pp. 201-210
Authors:
Dorn, T
Riegel, M
Schinzel, A
Siegel, AM
Kramer, G
Citation: T. Dorn et al., Epilepsy and trisomy 19q - different seizure patterns in a brother and a sister, EPILEPSY R, 47(1-2), 2001, pp. 119-126
Authors:
Riegel, M
Baumer, A
Jamar, M
Delbecque, K
Herens, C
Verloes, A
Schinzel, A
Citation: M. Riegel et al., Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes, HUM GENET, 109(3), 2001, pp. 286-294
Authors:
Fokstuen, S
Vrticka, K
Riegel, M
Da Silva, V
Baumer, A
Schinzel, A
Citation: S. Fokstuen et al., Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial(Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2, EUR J PED, 160(1), 2001, pp. 54-57
Authors:
Courtens, W
Vroman, S
Vandenhove, J
Wiedemann, U
Schinzel, A
Citation: W. Courtens et al., Pre- and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7), PRENAT DIAG, 21(8), 2001, pp. 642-648
Authors:
Martinez, MJ
Binkert, F
Schinzel, A
Kotzot, D
Citation: Mj. Martinez et al., No evidence of dup(7)(p11.2p13) in Silver-Russell syndrome, AM J MED G, 99(4), 2001, pp. 335-337
Severe arterial occlusive disorder and brachysyndactyly in a boy: A further case of Grange syndrome?
Authors:
Weymann, S
Yonekawa, Y
Khan, N
Martin, E
Heppner, FL
Schinzel, A
Kotzot, D
Citation: S. Weymann et al., Severe arterial occlusive disorder and brachysyndactyly in a boy: A further case of Grange syndrome?, AM J MED G, 99(3), 2001, pp. 190-195
Authors:
Schinzel, A
Niedrist, D
Citation: A. Schinzel et D. Niedrist, Chromosome imbalances associated with epilepsy, AM J MED G, 106(2), 2001, pp. 119-124
Authors:
Riegel, M
Morava, E
Czako, M
Kosztolanyi, G
Schinzel, A
Citation: M. Riegel et al., Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomalies, AM J MED G, 102(3), 2001, pp. 227-230
Authors:
Weymann, S
Yonekawa, Y
Khan, N
Martin, E
Heppner, FL
Schinzel, A
Kotzot, D
Citation: S. Weymann et al., Severe arterial occlusive disorder and brachysyndactyly in a boy: a further case of Grange syndrome? (vol 99, pg 190, 2001), AM J MED G, 102(1), 2001, pp. 108-108
Authors:
Fried, M
Schinzel, A
Citation: M. Fried et A. Schinzel, Reducibility of quadrinomials (vol 21, pg 153, 1972), ACT ARITH, 99(4), 2001, pp. 409-410
Authors:
Schinzel, A
Citation: A. Schinzel, On the greatest common divisor of two univariate polynomials, II, ACT ARITH, 98(1), 2001, pp. 95-106
Authors:
Aksu, F
Thyen, U
Hanefeld, F
Auerswald, G
Christen, HJ
Faust, J
Gabriel, R
Genzel, O
Haas, D
Hasselmann, O
Heinen, F
Karch, D
Kirschstein, M
Kluger, G
Korn-Merker, E
Krageloh-Mann, I
Marg, W
Mayatepek, E
Meissner, T
Niemann, G
Pust, B
Schmitt, B
Schoening, M
Schulze, A
Sperner, J
Tegtmeyer, FK
Weisert, M
Wiebicke, W
Wilken, B
Zschocke, J
Bentele, K
Schinzel, A
Strassburg, M
Citation: F. Aksu et al., On being a child and having children with the changing times, MONATS KIND, 149(6), 2001, pp. 594-596
Authors:
Blau, N
Scherer-Oppliger, T
Baumer, A
Riegel, M
Matasovic, A
Schinzel, A
Jaeken, J
Thony, B
Citation: N. Blau et al., Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS, HUM MUTAT, 16(1), 2000, pp. 54-60
Authors:
Kotzot, D
Schinzel, A
Citation: D. Kotzot et A. Schinzel, Paternal meiotic origin of der(21;21)(q10;q10) mosaicism [46,XX/46,XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome, EUR J HUM G, 8(9), 2000, pp. 709-712
Authors:
Baumer, A
Belli, S
Trueb, RM
Schinzel, A
Citation: A. Baumer et al., An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family, EUR J HUM G, 8(6), 2000, pp. 443-448
Authors:
Baumer, A
Balmer, D
Binkert, F
Schinzel, A
Citation: A. Baumer et al., Parental origin and mechanisms of formation of triploidy: a study of 25 cases, EUR J HUM G, 8(12), 2000, pp. 911-917
Authors:
Rothlisberger, B
Schinzel, A
Kotzot, D
Citation: B. Rothlisberger et al., A new molecular approach to investigate origin and formation of structuralchromosome aberrations, CHROMOS RES, 8(5), 2000, pp. 451-453
Authors:
Kotzot, D
Balmer, D
Baumer, A
Chrzanowska, K
Hamel, BCJ
Ilyina, H
Krajewska-Walasek, M
Lurie, IW
Otten, BJ
Schoenle, E
Tariverdian, G
Schinzel, A
Citation: D. Kotzot et al., Maternal uniparental disomy 7 - review and further delineation of the phenotype, EUR J PED, 159(4), 2000, pp. 247-256
Authors:
Schinzel, A
Citation: A. Schinzel, Discrepancies in cytogenetic results between different tissues in two fetuses with Wolf-Hirschhorn syndrome, CYTOG C GEN, 91(1-4), 2000, pp. 231-233
Authors:
Riegel, M
Baumer, A
Wisser, J
Acherman, J
Schinzel, A
Citation: M. Riegel et al., Prenatal diagnosis of mosaicism for a del(22)(q13), PRENAT DIAG, 20(1), 2000, pp. 76-79
Authors:
Stassen, HH
Bridler, R
Hagele, S
Hergersberg, M
Mehmann, B
Schinzel, A
Weisbrod, M
Scharfetter, C
Citation: Hh. Stassen et al., Schizophrenia and smoking: Evidence for a common neurobiological basis?, AM J MED G, 96(2), 2000, pp. 173-177
Authors:
Malich, S
Largo, RH
Schinzel, A
Molinari, L
Eiholzer, U
Citation: S. Malich et al., Phenotypic heterogeneity of growth and psychometric intelligence in Prader-Willi syndrome: Variable expression of a contiguous gene syndrome or parent-child resemblance?, AM J MED G, 91(4), 2000, pp. 298-304
Authors:
Achermann, S
Addor, MC
Schinzel, A
Citation: S. Achermann et al., Data on selected malformations in the EUROCAT study, SCHW MED WO, 130(38), 2000, pp. 1326-1331