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Results: 1-20 |
Results: 20
Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages
Authors: Kalaydjieva, L Calafell, F Jobling, MA Angelicheva, D de Knijff, P Rosser, ZH Hurles, ME Underhill, P Tournev, I Marushiakova, E Popov, V
Citation: L. Kalaydjieva et al., Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages, EUR J HUM G, 9(2), 2001, pp. 97-104
Angiotensin-converting enzyme activity and the ACE Alu polymorphism in autosomal dominant polycystic kidney disease
Authors: Schiavello, T Burke, V Bogdanova, N Jasik, P Melsom, S Boudville, N Robertson, K Angelicheva, D Dworniczak, B Lemmens, M Horst, J Todorov, V Dimitrakov, D Sulowicz, W Krasniak, A Stompor, T Beilin, L Hallmayer, J Kalaydjieva, L Thomas, M
Citation: T. Schiavello et al., Angiotensin-converting enzyme activity and the ACE Alu polymorphism in autosomal dominant polycystic kidney disease, NEPH DIAL T, 16(12), 2001, pp. 2323-2327
Hereditary motor and sensory neuropathy-Russe: New autosomal recessive neuropathy in Balkan gypsies
Authors: Thomas, PK Kalaydjieva, L Youl, B Rogers, T Angelicheva, D King, RHM Guergueltcheva, V Colomer, J Lupu, C Corches, A Popa, G Merlini, L Shmarov, A Muddle, JR Nourallah, M Tournev, I
Citation: Pk. Thomas et al., Hereditary motor and sensory neuropathy-Russe: New autosomal recessive neuropathy in Balkan gypsies, ANN NEUROL, 50(4), 2001, pp. 452-457
Origins and divergence of the Roma (Gypsies)
Authors: Gresham, D Morar, B Underhill, PA Passarino, G Lin, AA Wise, C Angelicheva, D Calafell, F Oefner, PJ Shen, PD Tournev, I de Pablo, R Kucinskas, V Perez-Lezaun, A Marushiakova, E Popov, V Kalaydjieva, L
Citation: D. Gresham et al., Origins and divergence of the Roma (Gypsies), AM J HU GEN, 69(6), 2001, pp. 1314-1331
Screening the 3 ' region of the polycystic kidney disease 1 (PKD1) gene in41 Bulgarian and Australian kindreds reveals a prevalance of protein truncating mutations
Authors: Bogdanova, N McCluskey, M Sikmann, K Markoff, A Todorov, V Dimitrakov, D Schiavello, T Thomas, M Kalaydjieva, L Dworniczak, B Horst, J
Citation: N. Bogdanova et al., Screening the 3 ' region of the polycystic kidney disease 1 (PKD1) gene in41 Bulgarian and Australian kindreds reveals a prevalance of protein truncating mutations, HUM MUTAT, 16(2), 2000, pp. 166-174
Hereditary motor and sensory neuropathy-Lom (HMSNL) in a Spanish family: clinical, electrophysiological, pathological and genetic studies
Authors: Colomer, J Iturriaga, C Kalaydjieva, L Angelicheva, D King, RHM Thomas, PK
Citation: J. Colomer et al., Hereditary motor and sensory neuropathy-Lom (HMSNL) in a Spanish family: clinical, electrophysiological, pathological and genetic studies, NEUROMUSC D, 10(8), 2000, pp. 578-583
Hereditary motor and sensory neuropathy Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries
Authors: Chandler, D Angelicheva, D Heather, L Gooding, R Gresham, D Yanakiev, P de Jonge, R Baas, F Dye, D Karagyozov, L Savov, A Blechschmidt, K Keats, B Thomas, PK King, RHM Starr, A Nikolova, A Colomer, J Ishpekova, B Tournev, I Urtizberea, JA Merlini, L Butinar, D Chabrol, B Voit, T Baethmann, M Nedkova, V Corches, A Kalaydjieva, L
Citation: D. Chandler et al., Hereditary motor and sensory neuropathy Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries, NEUROMUSC D, 10(8), 2000, pp. 584-591
Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation
Authors: Merlini, L Kaplan, JC Navarro, C Barois, A Bonneau, D Brasa, J Echenne, B Gallano, P Jarre, L Jeanpierre, M Kalaydjieva, L Leturcq, F Levi-Gomes, A Toutain, A Tournev, I Urtizberea, A Vallat, JM Voit, T Warter, JM
Citation: L. Merlini et al., Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation, NEUROLOGY, 54(5), 2000, pp. 1075-1079
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
A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23
Authors: Rogers, T Chandler, D Angelicheva, D Thomas, PK Youl, B Tournev, I Gergelcheva, V Kalaydjieva, L
Citation: T. Rogers et al., A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23, AM J HU GEN, 67(3), 2000, pp. 664-671
N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom
Authors: Kalaydjieva, L Gresham, D Gooding, R Heather, L Baas, F de Jonge, R Blechschmidt, K Angelicheva, D Chandler, D Worsley, P Rosenthal, A King, RHM Thomas, PK
Citation: L. Kalaydjieva et al., N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom, AM J HU GEN, 67(1), 2000, pp. 47-58
Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter
Authors: Angelicheva, D Turnev, I Dye, D Chandler, D Thomas, PK Kalaydjieva, L
Citation: D. Angelicheva et al., Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter, EUR J HUM G, 7(5), 1999, pp. 560-566
Hereditary auditory, vestibular, motor, and sensory neuropathy in a Slovenian Roma (Gypsy) kindred
Authors: Butinar, D Zidar, J Leonardis, L Popovic, M Kalaydjieva, L Angelicheva, D Sininger, Y Keats, B Starr, A
Citation: D. Butinar et al., Hereditary auditory, vestibular, motor, and sensory neuropathy in a Slovenian Roma (Gypsy) kindred, ANN NEUROL, 46(1), 1999, pp. 36-44
Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan gypsies: Clinical and electrophysiological observations
Authors: Tournev, I Kalaydjieva, L Youl, B Ishpekova, B Guergueltcheva, V Kamenov, O Katzarova, M Kamenov, Z Raicheva-Terzieva, M King, RHM Romanski, K Petkov, R Schmarov, A Dimitrova, G Popova, N Uzunova, M Milanov, S Petrova, J Petkov, Y Kolarov, G Aneva, L Radeva, O Thomas, PK
Citation: I. Tournev et al., Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan gypsies: Clinical and electrophysiological observations, ANN NEUROL, 45(6), 1999, pp. 742-750
Ultrastructural changes in peripheral nerve in hereditary motor and sensory neuropathy-Lom
Authors: King, RHM Tournev, I Colomer, J Merlini, L Kalaydjieva, L Thomas, PK
Citation: Rhm. King et al., Ultrastructural changes in peripheral nerve in hereditary motor and sensory neuropathy-Lom, NEUROP AP N, 25(4), 1999, pp. 306-312
Exclusion of linkage to the HLA region in ninety multiplex sibships with autism
Authors: Rogers, T Kalaydjieva, L Hallmayer, J Petersen, PB Nicholas, P Pingree, C McMahon, WM Spiker, D Lotspeich, L Kraemer, H McCague, P Dimiceli, S Nouri, N Peachy, T Yang, J Hinds, D Risch, N Myers, RM
Citation: T. Rogers et al., Exclusion of linkage to the HLA region in ninety multiplex sibships with autism, J AUTISM D, 29(3), 1999, pp. 195-201
Absence of linkage and linkage disequilibrium to chromosome 15q11-q13 markers in 139 multiplex families with autism
Authors: Salmon, B Hallmayer, J Rogers, T Kalaydjieva, L Petersen, PB Nicholas, P Pingree, C McMahon, W Spiker, D Lotspeich, L Kraemer, H McCague, P Dimiceli, S Nouri, N Pitts, T Yang, J Hinds, D Myers, RM Risch, N
Citation: B. Salmon et al., Absence of linkage and linkage disequilibrium to chromosome 15q11-q13 markers in 139 multiplex families with autism, AM J MED G, 88(5), 1999, pp. 551-556
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies)
Authors: Kalaydjieva, L Perez-Lezaun, A Angelicheva, D Onengut, S Dye, D Bosshard, NU Jordanova, A Savov, A Yanakiev, P Kremensky, I Radeva, B Hallmayer, J Markov, A Nedkova, V Tournev, I Aneva, L Gitzelmann, R
Citation: L. Kalaydjieva et al., A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies), AM J HU GEN, 65(5), 1999, pp. 1299-1307
A genomic screen of autism: Evidence for a multilocus etiology
Authors: Risch, N Spiker, D Lotspeich, L Nouri, N Hinds, D Hallmayer, J Kalaydjieva, L McCague, P Dimiceli, S Pitts, T Nguyen, L Yang, J Harper, C Thorpe, D Vermeer, S Young, H Hebert, J Lin, A Ferguson, J Chiotti, C Wiese-Slater, S Rogers, T Salmon, B Nicholas, P Petersen, PB Pingree, C McMahon, W Wong, DL Cavalli-Sforza, LL Kraemer, HC Myers, RM
Citation: N. Risch et al., A genomic screen of autism: Evidence for a multilocus etiology, AM J HU GEN, 65(2), 1999, pp. 493-507
Peripheral nerve abnormalities in the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome
Authors: Tournev, I King, RHM Workman, J Nourallah, M Muddle, JR Kalaydjieva, L Romanski, K Thomas, PK
Citation: I. Tournev et al., Peripheral nerve abnormalities in the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome, ACT NEUROP, 98(2), 1999, pp. 165-170
Risultati: 1-20 |