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El-Harith A. El-Harith
Leibniz University of Hanover
17Publications
9H-index
237Citations
Publications 17
Newest
#2Thilo DörkH-Index: 58
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More than600different CFTR (cystic fibrosistransmembraneconductance regulator) gene mutations havebeenidentified so farthatare considered to cause thefatalgenetic disorder cystic fibrosis (CF).We haveinvestigated 15Arabchildrenfrom 12 families, who were diagnosedas havingCF,formutations inthe codingregionandintheflanking intron sequences oftheCFTR gene. Sixdifferent CFTR mutations were identified including two novelmutations, 1548delG inexon 10 and 406-2A---G in intron3.Prominent mutationswere t...
#2Cornelia RoeslH-Index: 5
Last.Mirghani Ali Mohamed Ahmed (UofK: University of Khartoum)H-Index: 1
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Summary Familial thrombosis (FT) has been described as a rare autosomal-dominant disorder, mostly caused by activating mutations of the thrombopoietin gene (THPO). Other cases of FT have been linked to one of two different germline mutations in the myeloproliferative leukaemia virus oncogene gene (MPL), which codes for the thrombopoietin receptor MPL. We studied an Arab family with two siblings with severe thrombocytosis by linkage analysis and obtained evidence for linkage to MPL. Sequencing re...
ABSTRACT Hereditary hemorrhagic telangiectasia HHT, Morbus Osler or Osler-Weber-Rendu syndrome OMIM 187300, is an autosomal dominant disorder characterized by epistaxis, telangiectasia, multi-systemic vascular dysplasia and clinical presentation of wide variation. The pathogenesis involves dilated post-capillary venules or telangiectases in the mucus membrane of various organs as well as larger arteriovenous malformations. Genetic heterogeneity of HHT is confirmed; 2 disease loci, ACVRL1 and ENG...
Hereditary hemorrhagic telangiectasia (HHT), Morbus Osler or Osler-Weber- Rendu syndrome (OMIM 187300), is an autosomal dominant disorder characterized by epistaxis, telangiectasia, multi-systemic vascular dysplasia and clinical presentation of wide variation. The pathogenesis involves dilated post-capillary venules or telangiectases in the mucus membrane of various organs as well as larger arteriovenous
#1El-Harith A. El-Harith (Leibniz University of Hanover)H-Index: 9
#2Wolfgang Kühnau (Leibniz University of Hanover)H-Index: 9
Last.Manfred Stuhrmann (Leibniz University of Hanover)H-Index: 28
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Abstract In a large Saudi Arabian family with hereditary hemorrhagic telangiectasia (HHT), we identified ACVRL1 ( ALK1 ) nonsense mutation Q490X in 40 HHT patients and three healthy children, but neither in 11 individuals with epistaxis, 41 other healthy family members, nor in 50 healthy unrelated Saudi Arabian controls. Sequence analysis of the entire coding region of the ACVRL1 and ENG genes in five of the 11 epistaxic individuals did not reveal any other disease-causing mutation. Epistaxis se...
Background. Human herpes virus-8 (HHV-8) is a herpes virus that is always associated with Kaposi’s sarcoma. Previous studies suggested a high rate of Kaposi’s sarcoma in renal transplant patients in Saudi Arabia. The aim of this study was to investigate the prevalence of HHV-8 in Saudi renal transplant recipients and healthy controls. Methods. An immunofluorescence technique was used to detect antibodies to the latent nuclear antigen (LANA) of HHV-8 in renal transplant patients, members of a fam...
OBJECTIVES Naxos disease is a rare hereditary disorder characterized by palmoplantar keratoderma, woolly hair and cardiomyopathy. This study aims to determine whether Naxos disease in a Saudi Arab family is caused by the Pk2157del2 mutation that was identified in Greek families from Naxos Island where the disease had originally been described. METHODS This study was undertaken at King Fahad Hospital of the University, Al-Khobar, and the Medical University of Hannover, in the spring of 2003. Naxo...
ABSTRACT The tumor necrosis factor (TNF-alpha) is a cytokine known as a mediator of inflammation and immunity. The genes coding the tumor necrosis factors alpha and beta are considered part of class III major histocompatability complex. The 2 involved genes have been mapped to chromosome 6. Certain mutations in the TNF-alpha gene are believed to be causative for increased production of the cytokine. In this respect, the most common variant is the TNF2 allele, a single nucleotide substitution of ...
Last.Thilo DorkH-Index: 1
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OBJECTIVES The aim of this pilot study was to screen the major segments of the BRCA1 and BRCA2 genes for disease-associated mutations in Arab and Asian women with breast cancer from the Kingdom of Saudi Arabia. METHODS Deoxyribonucleic acid samples from 29 Arab women and 11 Asian women, with unilateral breast cancer were investigated for BRCA1 and BRCA2 mutations. For this purpose single strand conformation polymorphism and direct nucleotide sequencing techniques were employed. This study was ca...
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