Search Results - (Author, Cooperation:R. S. Ramesar)

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  1. 1
    C. Rotimi ; A. Abayomi ; A. Abimiku ; V. M. Adabayeri ; C. Adebamowo ; E. Adebiyi ; A. D. Ademola ; A. Adeyemo ; D. Adu ; D. Affolabi ; G. Agongo ; S. Ajayi ; S. Akarolo-Anthony ; R. Akinyemi ; A. Akpalu ; M. Alberts ; O. Alonso Betancourt ; A. M. Alzohairy ; G. Ameni ; O. Amodu ; G. Anabwani ; K. Andersen ; F. Arogundade ; O. Arulogun ; D. Asogun ; R. Bakare ; N. Balde ; M. L. Baniecki ; C. Beiswanger ; A. Benkahla ; L. Bethke ; M. Boehnke ; V. Boima ; J. Brandful ; A. I. Brooks ; F. C. Brosius ; C. Brown ; B. Bucheton ; D. T. Burke ; B. G. Burnett ; S. Carrington-Lawrence ; N. Carstens ; J. Chisi ; A. Christoffels ; R. Cooper ; H. Cordell ; N. Crowther ; T. Croxton ; J. de Vries ; L. Derr ; P. Donkor ; S. Doumbia ; A. Duncanson ; I. Ekem ; A. El Sayed ; M. E. Engel ; J. C. Enyaru ; D. Everett ; F. M. Fadlelmola ; E. Fakunle ; K. H. Fischbeck ; A. Fischer ; O. Folarin ; J. Gamieldien ; R. F. Garry ; S. Gaseitsiwe ; R. Gbadegesin ; A. Ghansah ; M. Giovanni ; P. Goesbeck ; F. X. Gomez-Olive ; D. S. Grant ; R. Grewal ; M. Guyer ; N. A. Hanchard ; C. T. Happi ; S. Hazelhurst ; B. J. Hennig ; C. Hertz ; Fowler ; W. Hide ; F. Hilderbrandt ; C. Hugo-Hamman ; M. E. Ibrahim ; R. James ; Y. Jaufeerally-Fakim ; C. Jenkins ; U. Jentsch ; P. P. Jiang ; M. Joloba ; V. Jongeneel ; F. Joubert ; M. Kader ; K. Kahn ; P. Kaleebu ; S. H. Kapiga ; S. K. Kassim ; I. Kasvosve ; J. Kayondo ; B. Keavney ; A. Kekitiinwa ; S. H. Khan ; P. Kimmel ; M. C. King ; R. Kleta ; M. Koffi ; J. Kopp ; M. Kretzler ; J. Kumuthini ; S. Kyobe ; C. Kyobutungi ; D. T. Lackland ; K. A. Lacourciere ; G. Landoure ; R. Lawlor ; T. Lehner ; M. Lesosky ; N. Levitt ; K. Littler ; Z. Lombard ; J. F. Loring ; S. Lyantagaye ; A. Macleod ; E. B. Madden ; C. R. Mahomva ; J. Makani ; M. Mamven ; M. Marape ; G. Mardon ; P. Marshall ; D. P. Martin ; D. Masiga ; R. Mason ; M. Mate-Kole ; E. Matovu ; M. Mayige ; B. M. Mayosi ; J. C. Mbanya ; S. A. McCurdy ; M. I. McCarthy ; H. McIlleron ; S. O. Mc'Ligeyo ; C. Merle ; A. O. Mocumbi ; C. Mondo ; J. V. Moran ; A. Motala ; M. Moxey-Mims ; W. S. Mpoloka ; C. L. Msefula ; T. Mthiyane ; N. Mulder ; G. Mulugeta ; D. Mumba ; J. Musuku ; M. Nagdee ; O. Nash ; D. Ndiaye ; A. Q. Nguyen ; M. Nicol ; O. Nkomazana ; S. Norris ; B. Nsangi ; A. Nyarko ; M. Nyirenda ; E. Obe ; R. Obiakor ; A. Oduro ; S. F. Ofori-Acquah ; O. Ogah ; S. Ogendo ; K. Ohene-Frempong ; A. Ojo ; T. Olanrewaju ; J. Oli ; C. Osafo ; O. Ouwe Missi Oukem-Boyer ; B. Ovbiagele ; A. Owen ; M. O. Owolabi ; L. Owolabi ; E. Owusu-Dabo ; G. Pare ; R. Parekh ; H. G. Patterton ; M. B. Penno ; J. Peterson ; R. Pieper ; J. Plange-Rhule ; M. Pollak ; J. Puzak ; R. S. Ramesar ; M. Ramsay ; R. Rasooly ; S. Reddy ; P. C. Sabeti ; K. Sagoe ; T. Salako ; O. Samassekou ; M. S. Sandhu ; O. Sankoh ; F. S. Sarfo ; M. Sarr ; G. Shaboodien ; I. Sidibe ; G. Simo ; M. Simuunza ; L. Smeeth ; E. Sobngwi ; H. Soodyall ; H. Sorgho ; O. Sow Bah ; S. Srinivasan ; D. J. Stein ; E. S. Susser ; C. Swanepoel ; G. Tangwa ; A. Tareila ; O. Tastan Bishop ; B. Tayo ; N. Tiffin ; H. Tinto ; E. Tobin ; S. M. Tollman ; M. Traore ; M. J. Treadwell ; J. Troyer ; M. Tsimako-Johnstone ; V. Tukei ; I. Ulasi ; N. Ulenga ; B. van Rooyen ; A. P. Wachinou ; S. P. Waddy ; A. Wade ; M. Wayengera ; J. Whitworth ; L. Wideroff ; C. A. Winkler ; S. Winnicki ; A. Wonkam ; M. Yewondwos ; T. sen ; N. Yozwiak ; H. Zar
    American Association for the Advancement of Science (AAAS)
    Published 2014
    Staff View
    Publication Date:
    2014-06-21
    Publisher:
    American Association for the Advancement of Science (AAAS)
    Print ISSN:
    0036-8075
    Electronic ISSN:
    1095-9203
    Topics:
    Biology
    Chemistry and Pharmacology
    Computer Science
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Africa ; Disease/*genetics ; England ; Genetics, Medical/trends ; Genome-Wide Association Study/*trends ; Genomics/*trends ; Health ; Humans ; National Institutes of Health (U.S.) ; United States
    Published by:
    http://www.aaas.org/

    Latest Papers from Table of Contents or Articles in Press
  2. 2
    Staff View
    ISSN:
    1530-0358
    Keywords:
    Hereditary nonpolyposis colorectal cancer ; Surveillance ; Mutation identification
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract PURPOSE: Colonoscopic surveillance of family members at risk of hereditary nonpolyposis colorectal cancer is difficult in a resource-poor country because of its expense. For family members who live in remote areas, poor communication and limited access to sophisticated medical care make surveillance even more difficult. The identification of the mutation causing the disease will simplify surveillance. Our aim was to assess the impact of mutation analysis on the management of a South African family with more than 150 members at risk for hereditary nonpolyposis colorectal cancer. METHODS: We studied a family that met the Amsterdam criteria for hereditary nonpolyposis colorectal cancer. Colorectal cancer affected 27 members in three generations (evidence from histology in 12, barium enema in 1, and family statements in 14 family members). Leukocyte DNA from family members was tested for linkage to candidate loci for colorectal cancer, and DNA from formalin-fixed cancers from six family members was studied for microsatellite instability. DNA from all available family members was then screened for mutations in thehMLH1 gene. The number of individuals at 50 percent risk was calculated by family pedigree and compared with the number who have the mutation. RESULTS: A disease-causing mutation in exon 13 ofhMLH1 segregated with the disorder in members of this kindred. Test results of 100 chromosomes from population-matched controls were negative. Sixty family members between the ages of 16 and 50 years are at 50 percent risk for colon cancer by pedigree analysis, but of these, only 26 (43 percent) have the mutation. CONCLUSION: A mutation in the DNA repair genehMLH1 was found in family members with hereditary nonpolyposis colorectal cancer and in some unaffected relatives previously at 50 percent risk, but not in unrelated subjects. The blood test for the mutation will simplify management, counseling, and surveillance and help to establish prophylactic colectomy.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF02258223

    Articles: DFG German National Licenses
  3. 3
    Staff View
    ISSN:
    1530-0358
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF02258225

    Articles: DFG German National Licenses
  4. 4
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Abstract The autosomal dominant late onset spinocerebellar ataxias (SCAs) are genetically heterogeneous. Three genes, SCA1 on 6p, SCA2 on 12q and MJD1 on 14q, have been isolated for SCA1, SCA2 and Machado-Joseph disease (MJD), respectively. In these three autosomal dominant disorders the mutation is an expanded CAG repeat. Evidence for heterogeneity in families not linked to the SCA1, SCA2 and MJD loci is provided by the mapping of SCA loci to chromosomes 16q, 11cen and 3p. A total of 14 South African kindreds and 22 sporadic individuals with SCA were investigated for the expanded SCA1 and MJD repeats. None of the families nor the sporadic individuals showed expansion of the MJD repeat. Expanded SCA1 and CAG repeats were found to cosegregate with the disorder in six of the families tested and were also observed in one sporadic individual with a negative family history of SCA. The use of the microsatellite markers D6S260, D6S89 and D6S274 provided evidence that the expanded SCA1 repeats segregated with three distinct haplotypes in the six families. Use of the highly polymorphic tightly linked microsatellite markers is still important as this stage, particularly where this coincides with the possibility of a homozygous genotype with the trinucleotide repeat marker. Importantly, our molecular findings indicate: (1) an absence of MJD expanded repeats underlying SCA; (2) the major disease in this group is due to mutations in the SCA1 gene; and (3) the familial disorder in the majority population group (i.e. mixed ancestry) in the Western Cape region of South Africa is most likely to be the result of two distinct founder events.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s004390050478

    Articles: DFG German National Licenses