Zobrazeno 1 - 10
of 31
pro vyhledávání: '"A. K. Saggar-Malik"'
Publikováno v:
Clinical Genetics. 44:173-176
Jeffery S, Saggar-Malik AK, Morgan S, MacGregor GA. A family with autosomal dominant polycystic kidney disease not linked to chromosome 16p13.3. Clin Genet 1993: 44: 173–176. © Munksgaard, 1993 A family of Sicilian origin with autosomal dominant p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c162e7b962ec20646e4d20cbabac677c
https://doi.org/10.1111/j.1399-0004.1993.tb03874.x
https://doi.org/10.1111/j.1399-0004.1993.tb03874.x
Autor:
C. Carney, A K Saggar-Malik, Timothy W.R. Doulton, Nirmala D. Markandu, G. A. Sagnella, Graham A. MacGregor, Feng J. He
Publikováno v:
Journal of Hypertension. 24:939-945
It has been suggested that inappropriate stimulation of the renin-angiotensin system (RAS) is responsible for the increase in blood pressure that occurs in autosomal-dominant polycystic kidney disease (ADPKD) before the development of renal failure.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbee9106109df66d88e61297e2a06cdb
https://doi.org/10.1097/01.hjh.0000222765.30348.0d
https://doi.org/10.1097/01.hjh.0000222765.30348.0d
Publikováno v:
Human Genetics. 105:648-653
Mutation screening in 90 unrelated ADPKD1 patients was carried out on some of the exons in the single copy area (37, 38, 39, 44, 45) using genomic PCR and SSCP. Four novel mutations were found: a 15 bp in-frame deletion in exon 39 [nt11449 (del 15)],
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::292d73cd49d33a3b39d541cdec0b9dad
https://doi.org/10.1007/s004399900177
https://doi.org/10.1007/s004399900177
Autor:
David Ravine, José L. San Millán, Roser Torra, Eliecer Coto, Martijn H. Breuning, Nadja Bogdanova, Marjan A. van Dijk, Nick Hateboer, A K Saggar-Malik
Publikováno v:
The Lancet. 353:103-107
Summary Background Although autosomal dominant polycystic kidney disease type 2 (PKD2) is known to have a milder clinical phenotype than PKD1, neither disorder has been compared with an unaffected control population in terms of survival. We report th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::88b7a702804f2cca67e723f23b76031d
https://doi.org/10.1016/s0140-6736(98)03495-3
https://doi.org/10.1016/s0140-6736(98)03495-3
Publikováno v:
Platelets. 6(6)
Platelet volume is a measure of platelet function. An increased platelet volume is found in acute vascular syndromes and may have a causative role and predict outcome. Patients with autosomal dominant polycystic kidney disease (APKD) are at increased
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74df3b9048a933b5b47e03ef1e432ea5
https://pubmed.ncbi.nlm.nih.gov/21043761
https://pubmed.ncbi.nlm.nih.gov/21043761
Autor:
Frank B. Micah, J. Plange-Rhule, Yanbin Dong, J. B. Eastwood, N. D. Carter, Isaac Kofi Owusu, A. K. Saggar-Malik, Steve Jeffery, F. P. Cappuccio
Publikováno v:
Genetic testing. 6(1)
We have tested 186 individuals from Ghana, 95 indigenous and 91 who have settled in the United Kingdom, for the presence of the T594M mutation in the beta-subunit of the epithelial sodium channel, which is associated with hypertension in black popula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baf54f33faf36b4835b57a56524c82a4
https://pubmed.ncbi.nlm.nih.gov/12180079
https://pubmed.ncbi.nlm.nih.gov/12180079
Autor:
Peter C. Harris, Denise L. Walker, Christopher G. Winearls, Sandro Rossetti, Vicente E. Torres, A K Saggar-Malik, Dominique Chauveau
Publikováno v:
Kidney international. 61(5)
A complete mutation screen of the ADPKD genes by DHPLC. Background Genetic analysis is a useful diagnostic tool in autosomal dominant polycystic kidney disease (ADPKD), especially when imaging results are equivocal. However, molecular diagnostics by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee4d0502b5c278449dd1a57827214e8a
https://pubmed.ncbi.nlm.nih.gov/11967008
https://pubmed.ncbi.nlm.nih.gov/11967008
Autor:
Ali R. Afzal, Rohan Taylor, Rodrigo N. Florêncio, A K Saggar-Malik, Michael A. Patton, Steve Jeffery
Publikováno v:
Genetic testing. 4(4)
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common human single-gene disorders, and is the most common inherited form of cystic kidney disease. It is estimated that approximately 85% of ADPKD is due to mutations in the PKD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89fd5db59ea4688d6531ebf9a9aed424
https://pubmed.ncbi.nlm.nih.gov/11216660
https://pubmed.ncbi.nlm.nih.gov/11216660
Autor:
A K Saggar-Malik, John B. Eastwood, Steve Jeffery, Martin Bland, G. A. Sagnella, Josh S. Swissman, Graham A. MacGregor, Ali R. Afzal
Publikováno v:
Genetic testing. 4(3)
ACE polymorphisms have recently been shown to associate with worse renal and or cardiovascular outcome, with the D allele widely reported as a risk factor for cardiovascular disease. In autosomal dominant polycystic kidney disease (ADPKD), there are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b89052df9be924b88b7db7c67b839ec8
https://pubmed.ncbi.nlm.nih.gov/11142763
https://pubmed.ncbi.nlm.nih.gov/11142763
Autor:
Saturnino Sanz de Castro, Nadja Bogdanova, Dimitrakov D, Roser Torra, Isabel Martínez, Ali R. Afzal, Jose L. San-Millan, Dorien J.M. Peters, Steve Jeffery, David Ravine, Barbera Veldhuisen, Eliecer Coto, Nick Hateboer, A K Saggar-Malik, Marjan A. van Dijk, Michael Krawczak, Martijn H. Breuning
Publikováno v:
Kidney international. 57(4)
Location of mutations within the PKD2 gene influences clinical outcome. Background Since the cloning of the gene for autosomal dominant polycystic kidney disease type 2 (PKD2), approximately 40 different mutations of that gene have been reported to b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72a134c0458da062a72422518626ee4a
https://pubmed.ncbi.nlm.nih.gov/10760080
https://pubmed.ncbi.nlm.nih.gov/10760080