Search Results - "Filon, D"
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High-resolution Y chromosome haplotypes of Israeli and Palestinian Arabs reveal geographic substructure and substantial overlap with haplotypes of Jews
Published in Human genetics (01-12-2000)“…High-resolution Y chromosome haplotype analysis was performed in 143 paternally unrelated Israeli and Palestinian Moslem Arabs (I&P Arabs) by screening for 11…”
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Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene
Published in The journal of clinical endocrinology and metabolism (1996)“…We report a three generation, 25 member kindred with familial pheochromocytoma. Seven subjects of generations I and II had pheochromocytoma, in five of the…”
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Evolution of a Genetic Disease in an Ethnic Isolate: β-Thalassemia in the Jews of Kurdistan
Published in Proceedings of the National Academy of Sciences - PNAS (01-01-1991)“…β-Thalassemia is a hereditary disease caused by any of 90 different point mutations in the β-globin gene. Specific populations generally carry a small number…”
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Analysis of beta-globin mutations shows stable mixed chimerism in patients with thalassemia after bone marrow transplantation
Published in Blood (15-10-1995)“…Beta-thalassemia major (TM) is caused by any of approximately 150 mutations within the beta-globin gene. To establish the degree of chimerism after bone marrow…”
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DNA analysis reveals the sex of infanticide victims
Published in Nature (London) (16-01-1997)“…For many centuries, infanticide was an accepted practice for disposing of unwanted babies. We have obtained archaeological evidence of infanticide in Roman…”
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Cost-benefit analysis of a national thalassaemia prevention programme in Israel
Published in Journal of medical screening (01-01-1998)“…In Israel (population 5.7 million) there are around 200 known living subjects with thalassaemia major, of whom around 80% are from the northern district. This…”
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α-Globin Mutations and Rearrangements in Israel: PCR-Based Analysis Reveals Ethnic Diversity
Published in Annals of the New York Academy of Sciences (30-06-1998)Get full text
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Second transplantation using allogeneic peripheral blood stem cells in a beta-thalassaemia major patient featuring stable mixed chimaerism
Published in British journal of haematology (01-08-1996)“…Allogeneic bone marrow transplantation (BMT) for beta-thalassaemia major carries the risks of disease recurrence due to residual thalassaemic stem cells or…”
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Molecular Analysis of β-Thalassemia in Vietnam
Published in Hemoglobin (01-01-2000)“…The molecular basis of the thalassemias has been studied in many of the world's populations. Here we report the results of the first screening for mutations in…”
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Silent carrier β-thalassaemia due to a severe β-globin mutation interacting with other genetic elements
Published in European journal of pediatrics (01-07-1993)“…Beta-thalassaemia is caused by the presence of two mutated beta-globin genes, one inherited from each parent. We describe two families in which the diagnosis…”
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Prenatal diagnosis based on simultaneous DNA analysis for alpha- and beta-globin genes
Published in American journal of hematology (01-11-1996)Get full text
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Hemoglobin switching in humans is accompanied by changes in the ratio of the transcription factors, GATA-1 and SP1
Published in Molecular medicine (Cambridge, Mass.) (01-03-1995)“…Understanding the mechanism of developmental regulation of hemoglobin switching has scientific as well as clinical relevance because of the influence of fetal…”
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The Y Chromosome Pool of Jews as Part of the Genetic Landscape of the Middle East
Published in American journal of human genetics (01-11-2001)“…A sample of 526 Y chromosomes representing six Middle Eastern populations (Ashkenazi, Sephardic, and Kurdish Jews from Israel; Muslim Kurds; Muslim Arabs from…”
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Y chromosome evidence for a founder effect in Ashkenazi Jews
Published in European journal of human genetics : EJHG (01-03-2005)“…Recent genetic studies, based on Y chromosome polymorphic markers, showed that Ashkenazi Jews are more closely related to other Jewish and Middle Eastern…”
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Linkage disequlibrium in the DTNBP1 (dysbindin) gene region and on chromosome 1p36 among psychotic patients from a genetic isolate in Israel: Findings from identity by descent haplotype sharing analysis
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01-07-2004)“…Several genes have been reported recently to be associated with schizophrenia and bipolar disorder. Because of the complexity of the inheritance of these…”
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Genetic Evidence for the Expansion of Arabian Tribes into the Southern Levant and North Africa
Published in American journal of human genetics (01-06-2002)Get full text
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Diversity of α‐globin mutations and clinical presentation of α‐thalassemia in Israel
Published in American journal of hematology (01-11-2000)“…α‐Thalassemia is among the world's most common single gene disorders, caused primarily by gene deletions. In Israel, where αo‐trait thalassemia is uncommon, it…”
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Gaucher-like cells in beta-thalassemia patient after bone marrow transplantation
Published in Journal of pediatric hematology/oncology (01-04-2006)Get full text
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Sequence analysis reveals a β-thalassaemia mutation in the DNA of skeletal remains from the archaeological site of Akhziv, Israel
Published in Nature genetics (01-04-1995)“…beta-Thalassaemia is manifested by severe anaemia and extensive bone pathology. Similar pathology may also result from other forms of anaemia. To clarify the…”
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