Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Leah Peleg"'
Autor:
Liat Ries-Levavi, Elon Pras, Aliza Amiel, Leah Peleg, Esther Guetta, Atalia Shtorch, Reuven Sharony
Publikováno v:
Journal of Medical Screening. 19:112-115
Objective To report and discuss the observation of three fragments on polymerase chain reaction (PCR) in routine carrier screening for fragile X. Methods From 2005 through 2010, 34,500 women underwent prenatal screening for fragile X. PCR was carried
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ffa0150d7179ed769654aa3b854e596
https://doi.org/10.1258/jms.2012.012029
https://doi.org/10.1258/jms.2012.012029
Autor:
Leah Peleg, Elon Pras, Silvia Bronstein, Hagith Yonath, Moshe Frydman, M. Karpati, Michal Berkenstadt
Publikováno v:
Journal of Medical Screening. 18:169-172
Objective To assess the frequency of the D1152H mutation in the CFTR gene in normal individuals, in cystic fibrosis (CF) patients and in the setting of prenatal diagnosis. Setting A database analysis of sequential screening results seen at the Sheba
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::274ae23f5bafd8ca688c42cbe022c96c
https://doi.org/10.1258/jms.2011.011044
https://doi.org/10.1258/jms.2011.011044
Publikováno v:
Journal of Assisted Reproduction and Genetics. 27:335-341
To investigate the influence of amplicons size and cell type on allele dropout and amplification failures in single-cell based molecular diagnosis.730 single lymphocytes and amniotic cells were collected from known heterozygotes individuals to one of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::452392af1bc28c14084fb86cd52f6e88
https://doi.org/10.1007/s10815-010-9396-5
https://doi.org/10.1007/s10815-010-9396-5
Publikováno v:
Biological Rhythm Research. 41:27-39
The patterns of creatine-phosphokinase and alkaline-phosphatase activities, white blood cells counts and urea-nitrogen concentration were assessed in males and females of two mice strains (BALB/c, c57BL/6J) and in their one-sided cross F1 progeny. Al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fc6ad41adf306d32cb622aae14bfc544
https://doi.org/10.1080/09291010902727922
https://doi.org/10.1080/09291010902727922
Publikováno v:
Blood Cells, Molecules, and Diseases. 41:230-233
Three thrombophilic polymorphisms, FV G1691A, FII G20210A and MTHFR C677T were investigated in Israeli populations by FRET, (fluorescence resonance energy transfer) real-time PCR. We observe extensive variability in the frequencies of each of the pol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4130e7478988c28d2abef2551f1082f3
https://doi.org/10.1016/j.bcmd.2008.05.004
https://doi.org/10.1016/j.bcmd.2008.05.004
Publikováno v:
International Journal of Dermatology. 46:64-67
Background Darier's disease (DD) is an autosomal dominant skin disorder characterized by abnormal keratinization and acantholysis. Deleterious mutations in the gene ATP2A2 which encodes SERCA2, a calcium pump of the sarco/endoplasmic reticulum underl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6688755f1deb9b147d48f1fb5a28277e
https://doi.org/10.1111/j.1365-4632.2006.03049.x
https://doi.org/10.1111/j.1365-4632.2006.03049.x
Publikováno v:
Anthropologischer Anzeiger. 62:147-155
The 844ins68 allele in the cystathionine beta-synthase gene is always found in cis with the T833C mutation further indicating that its origin is monophyletic and that it might be a useful anthropogenetic marker. Its frequency was examined in 1087 ran
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c8927d8f8f23105aeb475fb5e2b0dfa9
https://doi.org/10.1127/anthranz/62/2004/147
https://doi.org/10.1127/anthranz/62/2004/147
Autor:
Leah Peleg, Mazal Karpati, Amos Frisch, Roberto Colombo, Boleslaw Goldman, Elena Michaelovsky
Publikováno v:
Human Genetics. 114:366-376
The 1278insTATC is the most prevalent beta-hexosaminidase A ( HEXA) gene mutation causing Tay-Sachs disease (TSD), one of the four lysosomal storage diseases (LSDs) occurring at elevated frequencies among Ashkenazi Jews (AJs). To investigate the gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27786975d868ca0b50f8371898257abd
https://doi.org/10.1007/s00439-003-1072-8
https://doi.org/10.1007/s00439-003-1072-8
Publikováno v:
Muscle & Nerve. 28:109-112
Patients with adult hexosaminidase A (Hex A) deficiency may have clinical manifestations similar to amyotrophic lateral sclerosis (ALS). Mutations in the hexosaminidase A (HEXA) gene are common in the Jewish Ashkenazi population in Israel. Serum samp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::049fbf037f489762c0209a06ce9893db
https://doi.org/10.1002/mus.10371
https://doi.org/10.1002/mus.10371
Autor:
Etty Osher, Avi Valevski, Liora Sagie, Naftali Stern, Ari Zimran, Deborah Elstein, Aviva Fattal-Valevski, Nataly Urshanski, Tally Lerman-Sagie, Nadav Sagiv, Leah Peleg, Ruth Navon
Publikováno v:
Orphanet Journal of Rare Diseases
Background Late Onset Tay- Sachs disease (LOTS) is a rare neurodegenerative lysosomal storage disease which results from mutations in the gene encoding the α subunit (HEXA) of β-hexosaminidase enzyme (HexA). At the present time, no effective treatm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::153caf758484906d29c02d6b7ee487d5
https://pubmed.ncbi.nlm.nih.gov/25896637
https://pubmed.ncbi.nlm.nih.gov/25896637