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Results: 1-10 |
Results: 10
Amplification of a 13.5-kb region of the PKD1 gene containing the 2.5-kb polypyrimidine tract in intron 21 facilitates mutation detection in this gene
Authors: Afzal, AR Jeffery, S
Citation: Ar. Afzal et S. Jeffery, Amplification of a 13.5-kb region of the PKD1 gene containing the 2.5-kb polypyrimidine tract in intron 21 facilitates mutation detection in this gene, GENET TEST, 5(1), 2001, pp. 57-59
Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion
Authors: Afzal, AR Florencio, RN Taylor, R Patton, MA Saggar-Malik, A Jeffery, S
Citation: Ar. Afzal et al., Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion, GENET TEST, 4(4), 2000, pp. 365-370
Lack of association of ACE/angiotensinogen genotype with renal function inautosomal dominant polycystic kidney disease
Authors: Saggar-Malik, AK Afzal, AR Swissman, JS Bland, M Sagnella, GA Eastwood, JB MacGregor, GA Jeffrey, S
Citation: Ak. Saggar-malik et al., Lack of association of ACE/angiotensinogen genotype with renal function inautosomal dominant polycystic kidney disease, GENET TEST, 4(3), 2000, pp. 299-303
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2
Authors: Afzal, AR Rajab, A Fenske, CD Oldridge, M Elanko, N Ternes-Pereira, E Tuysuz, B Murday, VA Patton, MA Wilkie, AOM Jeffery, S
Citation: Ar. Afzal et al., Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2, NAT GENET, 25(4), 2000, pp. 419-422
Angiotensin-converting enzyme gene I/D polymorphism and carotid artery disease in renovascular hypertension
Authors: Losito, A Selvi, A Jeffery, S Afzal, AR Parente, B Cao, PG
Citation: A. Losito et al., Angiotensin-converting enzyme gene I/D polymorphism and carotid artery disease in renovascular hypertension, AM J HYPERT, 13(2), 2000, pp. 128-133
Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22
Authors: Afzal, AR Rajab, A Fenske, C Crosby, A Lahiri, N Ternes-Pereira, E Murday, VA Houlston, R Patton, MA Jeffery, S
Citation: Ar. Afzal et al., Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22, HUM GENET, 106(3), 2000, pp. 351-354
ACE gene polymorphism and survival in atherosclerotic renovascular disease
Authors: Losito, A Parente, B Cao, PG Jeffery, S Afzal, AR
Citation: A. Losito et al., ACE gene polymorphism and survival in atherosclerotic renovascular disease, AM J KIDNEY, 35(2), 2000, pp. 211-215
Location of mutations within the PKD2 gene influences clinical outcome
Authors: Hateboer, N Veldhuisen, B Peters, D Breuning, MH San-Millan, JL Bogdanova, N Coto, E von Dijk, MA Afzal, AR Jeffery, S Saggar-Malik, AK Torra, R Dimitrakov, D Martinez, I de Castro, SS Krawczak, M Ravine, D
Citation: N. Hateboer et al., Location of mutations within the PKD2 gene influences clinical outcome, KIDNEY INT, 57(4), 2000, pp. 1444-1451
Novel mutations in the 3 ' region of the polycystic kidney disease 1 (PKD1) gene
Authors: Afzal, AR Hand, M Ternes-Pereira, E Saggar-Malik, A Taylor, R Jeffery, S
Citation: Ar. Afzal et al., Novel mutations in the 3 ' region of the polycystic kidney disease 1 (PKD1) gene, HUM GENET, 105(6), 1999, pp. 648-653
Splicing mutations in KCNQ1 - A mutation hot spot at codon 344 that produces in frame transcripts
Authors: Murray, A Donger, C Fenske, C Spillman, I Richard, P Dong, YB Neyroud, N Chevalier, P Denjoy, I Carter, N Syrris, P Afzal, AR Patton, MA Guicheney, P Jeffery, S
Citation: A. Murray et al., Splicing mutations in KCNQ1 - A mutation hot spot at codon 344 that produces in frame transcripts, CIRCULATION, 100(10), 1999, pp. 1077-1084
Risultati: 1-10 |