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Results: 1-14 |
Results: 14
Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay
Authors: Sismani, C Al Armour, J Flint, J Girgalli, C Regan, R Patsalis, PC
Citation: C. Sismani et al., Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay, EUR J HUM G, 9(7), 2001, pp. 527-532
ZNF232: structure and expression analysis of a novel human C2H2 zinc finger gene(1), member of the SCAN/LeR domain subfamily
Authors: Mavrogiannis, LA Argyrokastritis, A Tzitzikas, N Dermitzakis, E Sarafidou, T Patsalis, PC Moschonas, NK
Citation: La. Mavrogiannis et al., ZNF232: structure and expression analysis of a novel human C2H2 zinc finger gene(1), member of the SCAN/LeR domain subfamily, BBA-GENE ST, 1518(3), 2001, pp. 300-305
Measurement of locus copy number by hybridisation with amplifiable probes
Authors: Armour, JAL Sismani, C Patsalis, PC Cross, G
Citation: Jal. Armour et al., Measurement of locus copy number by hybridisation with amplifiable probes, NUCL ACID R, 28(2), 2000, pp. 605-609
A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes
Authors: Skordis, N Patsalis, PC Hettinger, JA Kontou, M Herakleous, E Krishnamani, MRS Phillips, JA
Citation: N. Skordis et al., A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes, HORMONE RES, 53(5), 2000, pp. 239-245
Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language
Authors: Rosser, ZH Zerjal, T Hurles, ME Adojaan, M Alavantic, D Amorim, A Amos, W Armenteros, M Arroyo, E Barbujani, G Beckman, G Beckman, L Bertranpetit, J Bosch, E Bradley, DG Brede, G Cooper, G Corte-Real, HBSM de Knijff, P Decorte, R Dubrova, YE Evgrafov, O Gilissen, A Glisic, S Golge, M Hill, EW Jeziorowska, A Kalaydjieva, L Kayser, M Kivisild, T Kravchenko, SA Krumina, A Kucinskas, V Lavinha, J Livshits, LA Malaspina, P Maria, S McElreavey, K Meitinger, TA Mikelsaar, AV Mitchell, RJ Nafa, K Nicholson, J Norby, S Pandya, A Parik, J Patsalis, PC Pereira, L Peterlin, B Pielberg, G Prata, ML Previdere, C Roewer, L Rootsi, S Rubinsztein, DC Saillard, J Santos, FR Stefanescu, G Sykes, BC Tolun, A Villems, R Tyler-Smith, C Jobling, MA
Citation: Zh. Rosser et al., Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language, AM J HU GEN, 67(6), 2000, pp. 1526-1543
FMR1 repeat analysis in patients with ovarian dysfunction or failure. (vol83, pg 329, 1999)
Authors: Patsalis, PC
Citation: Pc. Patsalis, FMR1 repeat analysis in patients with ovarian dysfunction or failure. (vol83, pg 329, 1999), AM J MED G, 86(3), 1999, pp. 304-304
Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: Incidence, genetic variation, and stability
Authors: Patsalis, PC Sismani, C Hettinger, JA Boumba, I Georgiou, I Stylianidou, G Anastasiadou, V Koukoulli, R Pagoulatos, G Syrrou, M
Citation: Pc. Patsalis et al., Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: Incidence, genetic variation, and stability, AM J MED G, 84(3), 1999, pp. 184-190
Frequencies of "grey-zone"and premutation-size FMR1 CGG-repeat alleles in patients with developmental disability in Cyprus and Canada
Authors: Patsalis, PC Sismani, C Hettinger, JA Holden, JJA Lawson, JS Chalifoux, M Wing, M Walker, M Leggo, J
Citation: Pc. Patsalis et al., Frequencies of "grey-zone"and premutation-size FMR1 CGG-repeat alleles in patients with developmental disability in Cyprus and Canada, AM J MED G, 84(3), 1999, pp. 195-197
Genetic variation and intergenerational FMR1 CGG-repeat stability in 100 unrelated three-generation families from the normal population
Authors: Patsalis, PC Sismani, C Stylianou, S Ioannou, P Joseph, G Manoli, P Holden, JJA Hettinger, JA
Citation: Pc. Patsalis et al., Genetic variation and intergenerational FMR1 CGG-repeat stability in 100 unrelated three-generation families from the normal population, AM J MED G, 84(3), 1999, pp. 217-220
Fragile X premutations and (TA)n estrogen receptor polymorphism in women with ovarian dysfunction
Authors: Syrrou, M Georgiou, I Patsalis, PC Bouba, I Adonakis, G Papoulatos, GN
Citation: M. Syrrou et al., Fragile X premutations and (TA)n estrogen receptor polymorphism in women with ovarian dysfunction, AM J MED G, 84(3), 1999, pp. 306-308
Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study - Preliminary data
Authors: Allingham-Hawkins, SJ Babul-Hirji, R Chitayat, D Holden, JJA Yang, KT Lee, C Hudson, R Gorwill, H Nolin, SL Glicksman, A Jenkins, EC Brown, WT Howard-Peebles, PN Becchi, C Cummings, E Fallon, L Seitz, S Black, SH Vianna-Morgante, AM Costa, SS Otto, PA Mingroni-Netto, RC Murray, A Webb, J MacSwinney, F Dennis, N Jacobs, PA Syrrou, M Georgiou, I Patsalis, PC Uzielli, MLG Guarducci, S Lapi, E Cecconi, A Ricci, U
Citation: Sj. Allingham-hawkins et al., Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study - Preliminary data, AM J MED G, 83(4), 1999, pp. 322-325
FMR1 repeat analysis in patients with ovarian dysfunction or failure
Authors: Patsalis, PC
Citation: Pc. Patsalis, FMR1 repeat analysis in patients with ovarian dysfunction or failure, AM J MED G, 83(4), 1999, pp. 329-330
Molecular genetics of Turner syndrome: correlation with clinical phenotypeand response to growth hormone therapy
Authors: Tsezou, A Hadjiathanasiou, C Gourgiotis, D Galla, A Kavazarakis, E Pasparaki, A Kapsetaki, M Sismani, C Theodoridis, C Patsalis, PC Moschonas, N Kitsiou, S
Citation: A. Tsezou et al., Molecular genetics of Turner syndrome: correlation with clinical phenotypeand response to growth hormone therapy, CLIN GENET, 56(6), 1999, pp. 441-446
Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1
Authors: Koptides, M Constantinides, R Kyriakides, G Hadjigavriel, M Patsalis, PC Pierides, A Deltas, CC
Citation: M. Koptides et al., Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1, HUM GENET, 103(6), 1998, pp. 709-717
Risultati: 1-14 |