Výsledky vyhledávání

Beta-thalassemia mutations in western India

Autor: Rashi Priya, F. J. Sheth, Pooja Pandya, Vaz Flavin, J. J. Sheth, Sejal Davla, Chitra Thakur

Publikováno v: Indian journal of pediatrics. 75(6)

To study occurrence of common mutations in the population of Gujarat and the most prevalent mutation in certain high-risk communities.The mutation screening was carried out using ARMS-PCR in children with beta thalassemia.Population screening has ide

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::446296f6e5e75756e053b94ca649976d
https://pubmed.ncbi.nlm.nih.gov/18759082

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Study of anticardiolipin antibodies in repeated abortions--an institutional experience

Autor: J J, Sheth, F J, Sheth

Publikováno v: Indian journal of pathologymicrobiology. 44(2)

A cohort of 178 pregnant women with a history of first or second trimester abortions (2 or more) were the base of present study. In all, other causes of abortion were ruled out except for anti-phospholipid syndrome. Anti-Cardiolipin antibody (ACA) (I

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::13bdd4b38871f65e28ce5fc1a18570f5
https://pubmed.ncbi.nlm.nih.gov/11883124

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The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region

Autor: U, Radhakrishna, J L, Blouin, H, Mehenni, T Y, Mehta, F J, Sheth, J J, Sheth, J V, Solanki, S E, Antonarakis

Publikováno v: American Journal of Medical Genetics, Vol. 71, No 1 (1997) pp. 80-86

Hidrotic ectodermal dysplasia (HED), Clouston syndrome (MIM No. 129500), is an autosomal dominant disorder affecting the skin and its derivatives. It is characterized by alopecia, dysplastic nails in hands and feet, and hyperkeratosis of the palms an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::032cfc0046e1662cb887d1d93071078b
https://archive-ouverte.unige.ch/unige:8976

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Translocation t(22;22)(p11.1;q11.1) and NOR studies in a female with a history of repeated fetal loss

Autor: A S, Multani, U, Radhakrishna, F J, Sheth, V C, Shah, N J, Chinoy

Publikováno v: Annales de genetique. 35(2)

A 32-year-old phenotypic female with a history of nine consecutive abortions each in the first trimester was referred for cytogenetic studies. She was found to have 45,XX,t(22;22) (p11.1;q11.1) chromosomal pattern. The Ag-NOR banding technique showed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::aa3bcd3ca84801d20d2925fc9319427f
https://pubmed.ncbi.nlm.nih.gov/1524406

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A triple-X female with long arm deletion of one of the X-chromosomes associated with primary amenorrhoea: 47,XX, +del(X) (q27.3)

Autor: U, Radhakrishna, V C, Shah, H N, Highland, N J, Chinoy, F J, Sheth

Publikováno v: Annales de genetique. 34(1)

A 25-year-old phenotypic female with primary amenorrhoea was referred for chromosomal analysis. Earlier she had undergone hormonal therapy but showed no response. The secondary sex characters were of female type, with poor breast development. Laparos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::145b5da3af5e752e2b692aabf8b84d8e
https://pubmed.ncbi.nlm.nih.gov/1952792

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