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Results: 1-24 |
Results: 24
Association between the 5 ' UTR variant C178T of the serotonin receptor gene HTR3A and bipolar affective disorder
Authors: Niesler, B Flohr, T Nothen, MM Fischer, C Rietschel, M Franzek, E Albus, M Propping, P Rappold, GA
Citation: B. Niesler et al., Association between the 5 ' UTR variant C178T of the serotonin receptor gene HTR3A and bipolar affective disorder, PHARMACOGEN, 11(6), 2001, pp. 471-475
Serotonin receptor gene HTR3A variants in schizophrenic and bipolar affective patients
Authors: Niesler, B Weiss, B Fischer, C Nothen, MM Propping, P Bondy, B Rietschel, M Maier, W Albus, M Franzek, E Rappold, GA
Citation: B. Niesler et al., Serotonin receptor gene HTR3A variants in schizophrenic and bipolar affective patients, PHARMACOGEN, 11(1), 2001, pp. 21-27
SHOX in short stature syndromes
Authors: Blaschke, RJ Rappold, GA
Citation: Rj. Blaschke et Ga. Rappold, SHOX in short stature syndromes, HORMONE RES, 55, 2001, pp. 21-23
Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus
Authors: Stankiewicz, P Thiele, H Baldermann, C Kruger, A Giannakudis, I Dorr, S Werner, N Kunz, J Rappold, GA Hansmann, I
Citation: P. Stankiewicz et al., Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus, AM J MED G, 103(1), 2001, pp. 56-62
Cytogenetic and molecular characterization of two isodicentric Y chromosomes
Authors: Stankiewicz, P Helias-Rodzewicz, Z Jakubow-Durska, K Bocian, E Obersztyn, E Rappold, GA Mazurczak, T
Citation: P. Stankiewicz et al., Cytogenetic and molecular characterization of two isodicentric Y chromosomes, AM J MED G, 101(1), 2001, pp. 20-25
Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation
Authors: Seidel, J Schiller, S Kelbova, C Beensen, V Orth, U Vogt, S Claussen, U Zintl, F Rappold, GA
Citation: J. Seidel et al., Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation, CLIN GENET, 59(2), 2001, pp. 115-121
SHOX: Growth, Leri-Weill and Turner syndromes
Authors: Blaschke, RJ Rappold, GA
Citation: Rj. Blaschke et Ga. Rappold, SHOX: Growth, Leri-Weill and Turner syndromes, TRENDS ENDO, 11(6), 2000, pp. 227-230
Phenotypic variation and genetic heterogeneity in Leri-Weill syndrome
Authors: Schiller, S Spranger, S Schechinger, B Fukami, M Merker, S Drop, SLS Troger, J Knoblauch, H Kunze, J Seidel, J Rappold, GA
Citation: S. Schiller et al., Phenotypic variation and genetic heterogeneity in Leri-Weill syndrome, EUR J HUM G, 8(1), 2000, pp. 54-62
The short stature homeobox gene SHOX is involved in skeletal abnormalitiesin Turner syndrome
Authors: Clement-Jones, M Schiller, S Rao, E Blaschke, RJ Zuniga, A Zeller, R Robson, SC Binder, G Glass, I Strachan, T Lindsay, S Rappold, GA
Citation: M. Clement-jones et al., The short stature homeobox gene SHOX is involved in skeletal abnormalitiesin Turner syndrome, HUM MOL GEN, 9(5), 2000, pp. 695-702
A novel murine PKA-related protein kinase involved in neuronal differentiation
Authors: Blaschke, RJ Monaghan, AP Bock, D Rappold, GA
Citation: Rj. Blaschke et al., A novel murine PKA-related protein kinase involved in neuronal differentiation, GENOMICS, 64(2), 2000, pp. 187-194
Elevated DNA sequence diversity in the genomic region of the phosphatase PPP2R3L gene in the human pseudoautosomal region
Authors: Schiebel, K Meder, J Rump, A Rosenthal, A Winkelmann, M Fischer, C Bonk, T Humeny, A Rappold, GA
Citation: K. Schiebel et al., Elevated DNA sequence diversity in the genomic region of the phosphatase PPP2R3L gene in the human pseudoautosomal region, CYTOG C GEN, 91(1-4), 2000, pp. 224-230
FISH deletion mapping defines a single location for the Y chromosome stature gene, GCY
Authors: Kirsch, S Weiss, B De Rosa, M Ogata, T Lombardi, G Rappold, GA
Citation: S. Kirsch et al., FISH deletion mapping defines a single location for the Y chromosome stature gene, GCY, J MED GENET, 37(8), 2000, pp. 593-599
Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy
Authors: Gohlke, BC Haug, K Fukami, M Friedl, W Noeker, M Rappold, GA Haverkamp, F
Citation: Bc. Gohlke et al., Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy, J MED GENET, 37(8), 2000, pp. 600-602
Short arm rearrangements of sex chromosomes with haploinsufficiency of theSHOX gene are associated with Leri-Weill dyschondrosteosis
Authors: Palka, G Stuppia, L Franchi, PG Chiarelli, F Fischetto, R Borrelli, P Giannotti, A Fioretti, G Rinaldi, MM Mingarelli, R Rappold, GA Calabrese, G
Citation: G. Palka et al., Short arm rearrangements of sex chromosomes with haploinsufficiency of theSHOX gene are associated with Leri-Weill dyschondrosteosis, CLIN GENET, 57(6), 2000, pp. 449-453
A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation
Authors: Fukami, M Kirsch, S Schiller, S Richter, A Benes, V Franco, B Muroya, K Rao, E Merker, S Niesler, B Ballabio, A Ansorge, W Ogata, T Rappold, GA
Citation: M. Fukami et al., A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation, AM J HU GEN, 67(3), 2000, pp. 563-573
Transposition of SRY into the ancestral pseudoautosomal region creates a new pseudoautosomal boundary in a progenitor of simian primates
Authors: Glaser, B Myrtek, D Rumpler, Y Schiebel, K Hauwy, M Rappold, GA Schempp, W
Citation: B. Glaser et al., Transposition of SRY into the ancestral pseudoautosomal region creates a new pseudoautosomal boundary in a progenitor of simian primates, HUM MOL GEN, 8(11), 1999, pp. 2071-2078
X/Y translocation in a family with Leri-Weill dyschondrosteosis
Authors: Calabrese, G Fischetto, R Stuppia, L Capodiferro, F Mingarelli, R Causio, F Rocchi, M Rappold, GA Palka, G
Citation: G. Calabrese et al., X/Y translocation in a family with Leri-Weill dyschondrosteosis, HUM GENET, 105(4), 1999, pp. 367-368
Clinical, cytogenetic and molecular analysis of three 46,XX males
Authors: Plochl, E Vlasak, I Rittinger, O Bergendi, E Stopar, M Kurnik, P Nachtigall, M Zierler, H Rappold, GA Schiebel, K
Citation: E. Plochl et al., Clinical, cytogenetic and molecular analysis of three 46,XX males, J PED END M, 12(3), 1999, pp. 389-395
Genetic and structural characterization of the human mitochondrial inner membrane translocase
Authors: Bauer, MF Gempel, K Reichert, AS Rappold, GA Lichtner, P Gerbitz, KD Neupert, W Brunner, M Hofmann, S
Citation: Mf. Bauer et al., Genetic and structural characterization of the human mitochondrial inner membrane translocase, J MOL BIOL, 289(1), 1999, pp. 69-82
The critical region of overlap defining the AZFa male infertility intervalof proximal Yq contains three transcribed sequences
Authors: Sargent, CA Boucher, CA Kirsch, S Brown, G Weiss, B Trundley, A Burgoyne, P Saut, N Durand, C Levy, N Terriou, P Hargreave, T Cooke, H Mitchell, M Rappold, GA Affara, NA
Citation: Ca. Sargent et al., The critical region of overlap defining the AZFa male infertility intervalof proximal Yq contains three transcribed sequences, J MED GENET, 36(9), 1999, pp. 670-677
Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male
Authors: Stuppia, L Calabrese, G Borrelli, P Gatta, V Morizio, E Mingarelli, R Di Gilio, MC Crino, A Giannotti, A Rappold, GA Palka, G
Citation: L. Stuppia et al., Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male, J MED GENET, 36(9), 1999, pp. 711-713
The 3D positioning of ANT2 and ANT3 genes within female X chromosome territories correlates with gene activity
Authors: Dietzel, S Schiebel, K Little, G Edelmann, P Rappold, GA Eils, R Cremer, C Cremer, T
Citation: S. Dietzel et al., The 3D positioning of ANT2 and ANT3 genes within female X chromosome territories correlates with gene activity, EXP CELL RE, 252(2), 1999, pp. 363-375
Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia
Authors: Schaffner, C Stilgenbauer, S Rappold, GA Dohner, H Lichter, P
Citation: C. Schaffner et al., Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia, BLOOD, 94(2), 1999, pp. 748-753
A selective difference between human Y-chromosomal DNA haplotypes
Authors: Jobling, MA Williams, G Schiebel, K Pandya, A McElreavey, K Salas, L Rappold, GA Affara, NA Tyler-Smith, C
Citation: Ma. Jobling et al., A selective difference between human Y-chromosomal DNA haplotypes, CURR BIOL, 8(25), 1998, pp. 1391-1394
Risultati: 1-24 |