Experts and Doctors on pakistan in United Kingdom
Locale: United Kingdom
Shirmeen A, Khan M, Khan K, Khan K. Assessment of fertility control efforts in a selected area of Karachi, Pakistan. Ulster Med J. 2007;76:144-5 pubmed
Ohadi M, Lalloz M, Sham P, Zhao J, Dearlove A, Shiach C, et al
. Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3-22 by homozygosity mapping. Am J Hum Genet. 1999;64:165-71 pubmed
..00). Identification of the gene(s) involved in the pathogenesis of FHL will contribute to an understanding of the control of T-lymphocyte and macrophage activation, which is central to homeostasis in the immune system. ..
Noyes H, Reyburn H, Bailey J, Smith D. A nested-PCR-based schizodeme method for identifying Leishmania kinetoplast minicircle classes directly from clinical samples and its application to the study of the epidemiology of Leishmania tropica in Pakistan. J Clin Microbiol. 1998;36:2877-81 pubmed
..The homogeneity of the complex fingerprints suggests that the present epidemic of cutaneous leishmaniasis in Timargara camp may be due to the spread of a single clone of L. tropica. ..
Jackson A, McHale D, Campbell D, Jafri H, Rashid Y, Mannan J, et al
. Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. Am J Hum Genet. 1998;63:541-6 pubmed
..1 at D8S277). In addition, we have demonstrated the genetic heterogeneity of this condition by analyzing a total of nine consanguineous families with primary microcephaly. ..
Nemeth A, Bochukova E, Dunne E, Huson S, Elston J, Hannan M, et al
. Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34. Am J Hum Genet. 2000;67:1320-6 pubmed
..9-cM interval on chromosome 9q34. This work will ultimately allow the disease gene to be identified and its relevance to other types of autosomal recessive cerebellar ataxias to be determined. ..
Morgan N, Pasha S, Johnson C, Ainsworth J, Eady R, Dawood B, et al
. A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). Am J Hum Genet. 2006;78:160-6 pubmed
..These findings define a novel form of human HPS (HPS8) and extend genotype-phenotype correlations in HPS. ..
De Vos M, Hayward B, Charlton R, Taylor G, Glaser A, Picton S, et al
. PMS2 mutations in childhood cancer. J Natl Cancer Inst. 2006;98:358-61 pubmed
..This cancer syndrome can be mistaken for neurofibromatosis type 1, with important management implications including the risk of the disorder occurring in siblings and the likelihood of tumor development in affected individuals. ..