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Results: 1-21 |
Results: 21
Identification of paralogous HERV-K LTRs on human chromosomes 3, 4, 7 and 11 in regions containing clusters of olfactory receptor genes
Authors: Nadezhdin, EV Lebedev, YB Glazkova, DV Bornholdt, D Arman, IP Grzeschik, KH Hunsmann, G Sverdlov, ED
Citation: Ev. Nadezhdin et al., Identification of paralogous HERV-K LTRs on human chromosomes 3, 4, 7 and 11 in regions containing clusters of olfactory receptor genes, MOL GENET G, 265(5), 2001, pp. 820-825
Primary gene structure and expression studies of rodent paracellin-1
Authors: Weber, S Schlingmann, KP Peters, M Nejsum, LN Nielsen, S Engel, H Grzeschik, KH Seyberth, HW Grone, HJ Nusing, R Konrad, M
Citation: S. Weber et al., Primary gene structure and expression studies of rodent paracellin-1, J AM S NEPH, 12(12), 2001, pp. 2664-2672
Genes for human general transcription initiation factors TFIIIB, TFIIIB-associated proteins, TFIIIC2 and PTF/SNAPC: functional and positional candidates for tumour predisposition or inherited genetic diseases?
Authors: Purrello, M Di Pietro, C Rapisarda, A Amico, V Giunta, V Engel, H Stevens, S Hsieh, YJ Teichman, M Wang, ZX Sichel, G Roeder, R Grzeschik, KH
Citation: M. Purrello et al., Genes for human general transcription initiation factors TFIIIB, TFIIIB-associated proteins, TFIIIC2 and PTF/SNAPC: functional and positional candidates for tumour predisposition or inherited genetic diseases?, ONCOGENE, 20(35), 2001, pp. 4877-4883
Systematic screening for mutations in the human necdin gene (NDN): identification of two naturally occurring polymorphisms and association analysis in body weight regulation
Authors: Oeffner, F Korn, T Roth, H Ziegler, A Hinney, A Goldschmidt, H Siegfried, W Hebebrand, J Grzeschik, KH
Citation: F. Oeffner et al., Systematic screening for mutations in the human necdin gene (NDN): identification of two naturally occurring polymorphisms and association analysis in body weight regulation, INT J OBES, 25(6), 2001, pp. 767-769
THIK-1 and THIK-2, a novel subfamily of tandem pore domain K+ channels
Authors: Rajan, S Wischmeyer, E Karschin, C Preisig-Muller, R Grzeschik, KH Daut, J Karschin, A Derst, C
Citation: S. Rajan et al., THIK-1 and THIK-2, a novel subfamily of tandem pore domain K+ channels, J BIOL CHEM, 276(10), 2001, pp. 7302-7311
Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits
Authors: Derst, C Karschin, C Wischmeyer, E Hirsch, JR Preisig-Muller, R Rajan, S Engel, H Grzeschik, KH Daut, J Karschin, A
Citation: C. Derst et al., Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits, FEBS LETTER, 491(3), 2001, pp. 305-311
TAR cloning of the human chromosome 7 short arm in yeast and screening forterminal sequences
Authors: Glazkova, DV Efimenko, IG Legchilina, SP Bornholdt, D Grzeschik, KH Arman, IP
Citation: Dv. Glazkova et al., TAR cloning of the human chromosome 7 short arm in yeast and screening forterminal sequences, RUSS J GEN, 36(5), 2000, pp. 502-508
Significant association between a silent polymorphism in the neuromedin B gene and body weight in German children and adolescents
Authors: Oeffner, F Bornholdt, D Ziegler, A Hinney, A Gorg, T Gerber, G Goldschmidt, HP Siegfried, W Wright, A Hebebrand, J Grzeschik, KH
Citation: F. Oeffner et al., Significant association between a silent polymorphism in the neuromedin B gene and body weight in German children and adolescents, ACT DIABETO, 37(2), 2000, pp. 93-101
Cloning, structure and assignment to Chromosome 19q13 of the human Kir2.4 inwardly rectifing potassium channel gene (KCNJ14)
Authors: Topert, C Doring, F Derst, C Daut, J Grzeschik, KH Karschin, A
Citation: C. Topert et al., Cloning, structure and assignment to Chromosome 19q13 of the human Kir2.4 inwardly rectifing potassium channel gene (KCNJ14), MAMM GENOME, 11(3), 2000, pp. 247-249
Genomic structure and chromosome mapping of human and mouse RAMP genes
Authors: Derst, C Engel, H Grzeschik, KH Daut, J
Citation: C. Derst et al., Genomic structure and chromosome mapping of human and mouse RAMP genes, CYTOG C GEN, 90(1-2), 2000, pp. 115-118
Genomic localization of the human genes TAF1A, TAF1B and TAF1C, encoding TAF(I)48, TAF(I)63 and TAF(I)110 subunits of class I general transcription initiation factor SL1
Authors: Di Pietro, C Rapisarda, A Amico, V Bonaiuto, C Viola, A Scalia, M Motta, S Amato, A Engel, H Messina, A Sichel, G Grzeschik, KH Purrello, M
Citation: C. Di Pietro et al., Genomic localization of the human genes TAF1A, TAF1B and TAF1C, encoding TAF(I)48, TAF(I)63 and TAF(I)110 subunits of class I general transcription initiation factor SL1, CYTOG C GEN, 89(1-2), 2000, pp. 133-136
Behold the CHILD, it's only one: CHILD syndrome is not caused by deficiency of 3 beta-hydroxysteroid-Delta 8, Delta 7-isomerase
Authors: Happle, R Konig, A Grzeschik, KH
Citation: R. Happle et al., Behold the CHILD, it's only one: CHILD syndrome is not caused by deficiency of 3 beta-hydroxysteroid-Delta 8, Delta 7-isomerase, AM J MED G, 94(4), 2000, pp. 341-341
Mutations in the NSDHL gene, encoding a 3 beta-hydroxysteroid dehydrogenase, cause CHILD syndrome
Authors: Konig, A Happle, R Bornholdt, D Engel, H Grzeschik, KH
Citation: A. Konig et al., Mutations in the NSDHL gene, encoding a 3 beta-hydroxysteroid dehydrogenase, cause CHILD syndrome, AM J MED G, 90(4), 2000, pp. 339-346
Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: Not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual
Authors: Sobetzko, D Eich, G Kalff-Suske, M Grzeschik, KH Superti-Furga, A
Citation: D. Sobetzko et al., Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: Not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual, AM J MED G, 90(3), 2000, pp. 239-242
Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to Xp22.3
Authors: Lisch, W Buttner, A Oeffner, F Boddeker, I Engel, H Lisch, C Ziegler, A Grzeschik, KH
Citation: W. Lisch et al., Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to Xp22.3, AM J OPHTH, 130(4), 2000, pp. 461-468
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactylysyndrome
Authors: Kalff-Suske, M Wild, A Topp, J Wessling, M Jacobsen, EM Bornholdt, D Engel, H Heuer, H Aalfs, CM Ausems, MGEM Barone, R Herzog, A Heutink, P Homfray, T Gillessen-Kaesbach, G Konig, R Kunze, J Meinecke, P Muller, D Rizzo, R Strenge, S Superti-Furga, A Grzeschik, KH
Citation: M. Kalff-suske et al., Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactylysyndrome, HUM MOL GEN, 8(9), 1999, pp. 1769-1777
The neurobeachin gene (Nbea) identifies a new region of homology between mouse central Chromosome 3 and human Chromosome 13q13
Authors: Gilbert, DJ Engel, H Wang, XL Grzeschik, KH Copeland, NG Jenkins, NA Kilimann, MW
Citation: Dj. Gilbert et al., The neurobeachin gene (Nbea) identifies a new region of homology between mouse central Chromosome 3 and human Chromosome 13q13, MAMM GENOME, 10(10), 1999, pp. 1030-1031
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations
Authors: Radhakrishna, U Bornholdt, D Scott, HS Patel, UC Rossier, C Engel, H Bottani, A Chandal, D Blouin, JL Solanki, JV Grzeschik, KH Antonarakis, SE
Citation: U. Radhakrishna et al., The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations, AM J HU GEN, 65(3), 1999, pp. 645-655
EUROGEM - Individual reports of all 23 network laboratories
Authors: Spurr, NK Cohen, D Adams, S Bakker, E Beckman, EJ Buys, CHCM Cann, HM Cassiman, JJ Contu, L Dixon, M Estivill, X Ferguson-Smith, MA Grzeschik, KH Hansmann, I Kruse, T McCarthy, T Moreno, F Moschonas, N Povey, S Roizes, G Terrenato, L Vergnaud, G Weissenbach, J Williamson, R Wright, A
Citation: Nk. Spurr et al., EUROGEM - Individual reports of all 23 network laboratories, BIOM HLTH R, 23, 1998, pp. 22-65
Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (K(ir)7.1) gene (KCNJ13)
Authors: Derst, C Doring, F Preisig-Muller, R Daut, J Karschin, A Jeck, N Weber, S Engel, H Grzeschik, KH
Citation: C. Derst et al., Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (K(ir)7.1) gene (KCNJ13), GENOMICS, 54(3), 1998, pp. 560-563
Transmission disequilibrium and sequence variants at the leptin receptor gene in extremely obese German children and adolescents
Authors: Roth, H Korn, T Rosenkranz, K Hinney, A Ziegler, A Kunz, J Siegfried, W Mayer, H Hebebrand, J Grzeschik, KH
Citation: H. Roth et al., Transmission disequilibrium and sequence variants at the leptin receptor gene in extremely obese German children and adolescents, HUM GENET, 103(5), 1998, pp. 540-546
Risultati: 1-21 |