Výsledky vyhledávání - "Avinoam Adam"

Molecular basis of heat labile hexosaminidase B among Jews and Arabs

Autor: Ginat Narkis, Ruth Navon, Avinoam Adam, Lutfi Jaber, Mark Pennybacker, Richard L. Proia

Publikováno v: Human Mutation. 10:424-429

Genotyping individuals for Tay-Sachs disease (TSD) is mainly based on the heat lability of beta-hexosaminidase (Hex) A (alphabeta) and the heat stability of Hex B (betabeta). Mutations in the HEXB gene encoding the beta-subunits of Hex that result in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00361f12de8bbeb53e727a1f002299d2
https://doi.org/10.1002/(sici)1098-1004(1997)10:6<424::aid-humu2>3.3.co

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Tay-Sachs disease andHEXA mutations among Moroccan Jews

Autor: Avinoam Adam, M. Karpati, Ruth Navon, Michal Kaufman, Boleslaw Goldman, Lea Peleg, Edna Akstein, Julia Grinshpun-Cohen

Publikováno v: Human Mutation. 10:295-300

Moroccan Jewry (N>750,000) is the only non-Ashkenazi Jewish community in which Tay-Sachs disease (TSD) is not extremely rare. Previous studies among Moroccan Jewish TSD families identified three HEXA mutations. In this study, extended to enzyme-defin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::217ca6db4a39b7bd64d332a3279ec463
https://doi.org/10.1002/(sici)1098-1004(1997)10:4<295::aid-humu5>3.0.co

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Thermolabile Hexosaminidase (Hex) B: Diverse Frequencies among Jewish Communities and Implication for Screening of Sera for Hex A Deficiencies

Autor: Avinoam Adam, Ruth Navon

Publikováno v: Human Heredity. 40:99-104

Twenty unrelated people with thermolabile beta-hexosaminidase (Hex) B were identified in random samples of 41,561 adult Israeli Jews whose sera were screened for Hex A levels. Eighteen of them originated from contiguous Middle Eastern countries (n =

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28a4d172eee2490fd7fb8947c47bbe7d
https://doi.org/10.1159/000153913

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Polymorphisms of red-green vision in some populations of Southern Africa

Autor: Avinoam Adam

Publikováno v: American Journal of Physical Anthropology. 53:339-346

Some 5,000 schoolboys of the Khoikhoi, Negro, “Coloured,” and Malay populations were screened with the Ishihara plates, and those with defective red-green vision were diagnosed with an anomaloscope. The findings are presented in terms of the six

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd4e3048af3f2f14709a8887feaac528
https://doi.org/10.1002/ajpa.1330530304

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Primary Retinal Dysplasia Transmitted as X-Chromosome-Linked Recessive Disorder

Autor: Victor Godel, Avinoam Adam, Amalia Romano, R. Stein, R. M. Goodman

Publikováno v: American Journal of Ophthalmology. 86:221-227

The familial occurrence of retinal dysplasia in five affected male children suggested X-chromosome-linked recessive inheritance. The clinical features were childhood onset, severe visual impairment, head posture, nystagmus, and strabismus. The ophtha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b432bdabae2c07b86a6f81c878b0147
https://doi.org/10.1016/s0002-9394(14)76816-3

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