Ashkenazi Jewish
Mostrando 13-24 de 53 artigos, teses e dissertações.
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13. Breast cancer mortality among Ashkenazi Jewish women in São Paulo and Porto Alegre, Brazil
BioMed Central.
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14. Founder mutations in BRCA1/2 are not frequent in Canadian Ashkenazi Jewish men with prostate cancer
BioMed Central.
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15. An evaluation of common breast cancer gene mutations in a population of Ashkenazi Jews.
OBJECTIVES: In view of the recent reports of recurrent mutations in BRCA1 and BRCA2 in the Ashkenazi Jewish population, we have undertaken to assess the frequency of these mutations in this population attending for genetic counselling and risk assessment of familial breast cancer. DESIGN: Mutation screening for the 185delAG and the 5382insC mutations in BRCA
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16. Log odds of carrying an Ancestral Mutation in BRCA1 or BRCA2 for a Defined personal and family history in an Ashkenazi Jewish woman (LAMBDA)
BioMed Central.
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17. Expression of systemic lupus erythematosus in various ethnic Jewish Israeli groups.
OBJECTIVES--To assess the expression of systemic lupus erythematosus (SLE) in Jewish Israeli patients according to ethnic origin. METHODS--Eighty four patients with SLE were divided into groups according to origin and compared for history, physical examination, and laboratory variables. RESULTS--Patients of Sephardic origin had more serious disease manifesta
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18. Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: Substitution of serine for glycine at position 269 of the α-subunit of β-hexosaminidase
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19. Carrier Screening for Mucolipidosis Type IV in the American Ashkenazi Jewish Population
Mutations in the MCOLN1 gene cause mucolipidosis type IV (MLIV), a severely debilitating, autosomal recessive, lysosomal storage disorder. Approximately 80% of patients with MLIV are of Ashkenazi Jewish (AJ) descent, and two mutations, IVS3−2A→G and 511del6434, account for >95% of the mutant alleles in this population. To determine the carrier frequencie
The American Society of Human Genetics.
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20. Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles.
In the course of defining mutations causing Tay-Sachs disease (TSD) in non-Jewish patients and carriers from the British Isles, we identified a guanine to adenine change (also previously described) in the obligatory GT sequence of the donor splice site at the 5' end of intron 9 of the hexosaminidase alpha peptide gene. Of 24 unrelated mutant chromosomes from
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21. Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population
Maple syrup urine disease (MSUD) is a rare, autosomal recessive disorder of branched-chain amino acid metabolism. We noted that a large proportion (10 of 34) of families with MSUD that were followed in our clinic were of Ashkenazi Jewish (AJ) descent, leading us to search for a common mutation within this group. On the basis of genotyping data suggestive of
The American Society of Human Genetics.
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22. Major histocompatibility complex haplotype studies in Ashkenazi Jewish patients with pemphigus vulgaris.
Of 26 Ashkenazi Jewish patients with pemphigus vulgaris, 24 (92.3%) carried the major histocompatibility complex (MHC) class II alleles HLA-DR4, DQw3, of which all were of the subtype DR4, DQw8. From studies of the patients and their families, haplotypes were defined. It was found that, of the patients who carried HLA-DR4, DQw8, 75% carried one or the other
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23. Antenatal diagnosis of Niemann-Pick disease in a twin pregnancy.
An Ashkenazi Jewish woman had a child with Niemann-Pick disease in her first marriage. She subsequently remarried a man who was also heterozygous for the condition and conceived twins. Prenatal diagnostic tests were performed and one twin was shown to be homozygous and the other heterozygous for Niemann-Pick disease. The problems of prenatal diagnosis and co
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24. Development of Genomic DNA Reference Materials for Genetic Testing of Disorders Common in People of Ashkenazi Jewish Descent
Many recessive genetic disorders are found at a higher incidence in people of Ashkenazi Jewish (AJ) descent than in the general population. The American College of Medical Genetics and the American College of Obstetricians and Gynecologists have recommended that individuals of AJ descent undergo carrier screening for Tay Sachs disease, Canavan disease, famil
American Society for Investigative Pathology.