Stuhrmann M - Search Results

1

Vascular endothelial growth factor A polymorphism and risk of Kaposi's sarcoma herpesvirus viremia in kidney allograft recipients.

Alkharsah KR, Alzahrani AJ, Obeid OE, El-Harith EH, Guella A, Mohamed EA, Haykal AH, Stuhrmann M, Al-Ali AK. Alkharsah KR, et al. Among authors: stuhrmann m. Transpl Infect Dis. 2014 Oct;16(5):783-9. doi: 10.1111/tid.12277. Epub 2014 Aug 14. Transpl Infect Dis. 2014. PMID: 25124076

2

Increased seroprevalence of human herpes virus-8 in renal transplant recipients in Saudi Arabia.

Alzahrani AJ, El-Harith el-HA, Milzer J, Obeid OE, Stuhrmann M, Al-Dayel A, Mohamed EA, Al-Egail S, Daoud M, Chowdhury A, Guella A, Aloraifi I, Schulz TF. Alzahrani AJ, et al. Among authors: stuhrmann m. Nephrol Dial Transplant. 2005 Nov;20(11):2532-6. doi: 10.1093/ndt/gfi058. Epub 2005 Aug 22. Nephrol Dial Transplant. 2005. PMID: 16115855

3

The beta-globin genotype E121Q/W15X (cd121GAA-->CAA/cd15TGG-->TGA) underlines Hb d/beta-(0) thalassaemia marked by domination of haemoglobin D.

Ahmed M, Stuhrmann M, Bashawri L, Kühnau W, El-Harith EH. Ahmed M, et al. Among authors: stuhrmann m. Ann Hematol. 2001 Nov;80(11):629-33. doi: 10.1007/s002770100376. Ann Hematol. 2001. PMID: 11757720

4

Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23.

Stuhrmann M, Hennies HC, Bukhari IA, Brakensiek K, Nürnberg G, Becker C, Huebener J, Miranda MC, Frye-Boukhriss H, Knothe S, Schmidtke J, El-Harith EH. Stuhrmann M, et al. Clin Genet. 2008 Jun;73(6):566-72. doi: 10.1111/j.1399-0004.2008.01000.x. Epub 2008 May 6. Clin Genet. 2008. PMID: 18462451

5

Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations.

Dörk T, El-Harith EH, Stuhrmann M, Macek M Jr, Egan M, Cutting GR, Tzetis M, Kanavakis E, Carles S, Claustres M, Padoa C, Ramsay M, Schmidtke J. Dörk T, et al. Among authors: stuhrmann m. Am J Hum Genet. 1998 Aug;63(2):656-62. doi: 10.1086/301950. Am J Hum Genet. 1998. PMID: 9683582 Free PMC article. No abstract available.

6

Naxos disease in an Arab family is not caused by the Pk2157del2 mutation. Evidence for exclusion of the plakoglobin gene.

Stuhrmann M, Bukhari IA, El-Harith el-HA. Stuhrmann M, et al. Saudi Med J. 2004 Oct;25(10):1449-52. Saudi Med J. 2004. PMID: 15494820

7

Hereditary hemorrhagic telangiectasia. Genetics, pathogenesis, clinical manifestation and management.

Stuhrmann M, El-Harith el-HA. Stuhrmann M, et al. Saudi Med J. 2007 Jan;28(1):11-21. Saudi Med J. 2007. PMID: 17206283 Review.

8

Hereditary hemorrhagic telangiectasia is caused by the Q490X mutation of the ACVRL1 gene in a large Arab family: support of homozygous lethality.

El-Harith el-HA, Kühnau W, Schmidtke J, Gadzicki D, Ahmed M, Krawczak M, Stuhrmann M. El-Harith el-HA, et al. Among authors: stuhrmann m. Eur J Med Genet. 2006 Jul-Aug;49(4):323-30. doi: 10.1016/j.ejmg.2005.09.002. Epub 2005 Oct 25. Eur J Med Genet. 2006. PMID: 16829353

9

Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family.

Bukhari IA, El-Harith EA, Stuhrmann M. Bukhari IA, et al. Among authors: stuhrmann m. J Eur Acad Dermatol Venereol. 2006 May;20(5):628-9. doi: 10.1111/j.1468-3083.2006.01522.x. J Eur Acad Dermatol Venereol. 2006. PMID: 16684309 No abstract available.

10

Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia.

Brakensiek K, Frye-Boukhriss H, Mälzer M, Abramowicz M, Bahr MJ, von Beckerath N, Bergmann C, Caselitz M, Holinski-Feder E, Muschke P, Oexle K, Strobl-Wildemann G, Wolff G, El-Harith EA, Stuhrmann M. Brakensiek K, et al. Among authors: stuhrmann m. Clin Genet. 2008 Aug;74(2):171-7. doi: 10.1111/j.1399-0004.2008.01029.x. Epub 2008 May 21. Clin Genet. 2008. PMID: 18498373

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