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Results: 1-23 |
Results: 23
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia
Authors: Nurnberg, P Thiele, H Chandler, D Hohne, W Cunningham, ML Ritter, H Leschik, G Uhlmann, K Mischung, C Harrop, K Goldblatt, J Borochowitz, ZU Kotzot, D Westermann, F Mundlos, S Braun, HS Laing, N Tinschert, S
Citation: P. Nurnberg et al., Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia, NAT GENET, 28(1), 2001, pp. 37-41
No evidence of dup(7)(p11.2p13) in Silver-Russell syndrome
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
Maternal isochromosome 7q and paternal isochromosome 7p in a boy with growth retardation
Authors: Kotzot, D Holland, H Keller, E Froster, UG
Citation: D. Kotzot et al., Maternal isochromosome 7q and paternal isochromosome 7p in a boy with growth retardation, AM J MED G, 102(2), 2001, pp. 169-172
Severe arterial occlusive disorder and brachysyndactyly in a boy: a further case of Grange syndrome? (vol 99, pg 190, 2001)
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
Uses of error: Genetic counselling
Authors: Kotzot, D
Citation: D. Kotzot, Uses of error: Genetic counselling, LANCET, 357(9273), 2001, pp. 2051-2051
Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements
Authors: Kotzot, D
Citation: D. Kotzot, Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements, J MED GENET, 38(8), 2001, pp. 497-507
Comparative analysis of isodisomic and heterodisomic segments in cases with maternal uniparental disomy 14 suggests more than one imprinted region
Authors: Kotzot, D
Citation: D. Kotzot, Comparative analysis of isodisomic and heterodisomic segments in cases with maternal uniparental disomy 14 suggests more than one imprinted region, CLIN GENET, 60(3), 2001, pp. 226-231
A complex chromosome rearrangement involving chromosome 8, 11, and 12 analyzed by conventional cytogenetic investigations, fluorescence in situ hybridisation, and spectral karyotyping
Authors: Kotzot, D Holland, H Kohler, M Froster, UG
Citation: D. Kotzot et al., A complex chromosome rearrangement involving chromosome 8, 11, and 12 analyzed by conventional cytogenetic investigations, fluorescence in situ hybridisation, and spectral karyotyping, ANN GENET, 44(3), 2001, pp. 135-138
Homozygosity of the cystic fibrosis (CF) gene allele IVS8-(5T) in a Tamil male with congenital bilateral absence of the vas deferens (CBAVD) (vol 6, pg 669, 2000)
Authors: Fokstuen, S Balakrishnan, J Kotzot, D Hergersberg, M Hobi, C
Citation: S. Fokstuen et al., Homozygosity of the cystic fibrosis (CF) gene allele IVS8-(5T) in a Tamil male with congenital bilateral absence of the vas deferens (CBAVD) (vol 6, pg 669, 2000), MOL HUM REP, 6(8), 2000, pp. 770-770
Homozygosity of the cystic fibrosis (CF) gene allele IVS8-(5T) in a Tamil male with congenital bilateral absence of the vas deferens (CBAVD)
Authors: Fokstuen, S Balakrishnan, J Kotzot, D Hergersberg, M Hobi, C
Citation: S. Fokstuen et al., Homozygosity of the cystic fibrosis (CF) gene allele IVS8-(5T) in a Tamil male with congenital bilateral absence of the vas deferens (CBAVD), MOL HUM REP, 6(7), 2000, pp. 669-670
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
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
A new molecular approach to investigate origin and formation of structuralchromosome aberrations
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
Maternal uniparental disomy 7 - review and further delineation of the phenotype
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
Mental retardation, developmental delay, and partial psychomotor deficits in maternal uniparental disomy 7
Authors: Kotzot, D
Citation: D. Kotzot, Mental retardation, developmental delay, and partial psychomotor deficits in maternal uniparental disomy 7, EUR J PED, 159(12), 2000, pp. 930-930
Wolf-Hirschhorn syndrome due to a 3 : 1 segregation of a maternal balancedt(4;15)(p16.3;q11) translocation
Authors: Zimmermann-Bar, U Stallmach, T Riegel, M Wiedemann, U Fauchere, JC Binkert, F Kotzot, D
Citation: U. Zimmermann-bar et al., Wolf-Hirschhorn syndrome due to a 3 : 1 segregation of a maternal balancedt(4;15)(p16.3;q11) translocation, PRENAT DIAG, 20(10), 2000, pp. 847-850
Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications
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
No evidence of uniparental disomy 2, 6, 14, 16, 20, and 22 as a major cause of intrauterine growth retardation
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
Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes
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
Short stature, myopia, severe developmental delay, and peculiar facial appearance in two brothers: A new syndrome?
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
Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affectingclinical outcome
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
"Essentially pure" partial trisomy (6)(p23 -> pter) in two brothers due tomaternal t(6;17)(p23;p13.3)
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
Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and acritical review with bibliography of UPD other than 15
Authors: Kotzot, D
Citation: D. Kotzot, Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and acritical review with bibliography of UPD other than 15, AM J MED G, 82(3), 1999, pp. 265-274
Risultati: 1-23 |