Zobrazeno 1 - 10 of 49 pro vyhledávání: '"Y E, Hsia"'
1
Presymptomatic diagnosis of adult onset polycystic kidney disease by ultrasonography
Autor: B. Wolf, K. J. W. Taylor, N. Rosenfield, S. Gottlieb, Arthur T. Rosenfield, Y. E. Hsia
Publikováno v: Clinical Genetics. 14:1-7
Results of an ongoing prospective study of progeny of patients with adult-onset polycystic kidney disease using grey-scale ultrasound and high-dose nephrotomography are reported. Six asymptomatic subjects out of 17 at risk for polycystic kidney disea
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9042f74937a7f9bbadc12a62fa854040
https://doi.org/10.1111/j.1399-0004.1978.tb02053.x
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2
Microchimerism and Tolerance following Intrauterine Transplantation and Transfusion for α-Thalassemia-1
Autor: T. Donlon, Elizabeth Trachtenberg, Y. E. Hsia, K. Eddelman, John C. Hobbins, Patricia J. Giardina, A. Hayward, Ralph Quinones, F. Battaglia, Daniel R. Ambruso, Elizabeth Shpall, Roger Giller
Publikováno v: Fetal Diagnosis and Therapy. 13:8-14
A fetus homozygous for alpha-thalassemia-1 was given haploidentical paternal CD34 cells at 13, 19 and 24 weeks' gestation and supported through pregnancy by blood transfusion. The fetal hematocrit ranged between 27 and 47% and between one half and th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27a587fdca1f904506d0e9bca965e0ff
https://doi.org/10.1159/000020793
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3
Von Hippel-Lindau Syndrome
Autor: H P, Neumann, C J, Lips, Y E, Hsia, B, Zbar
Publikováno v: Brain Pathology. 5:181-193
After a decade of intensive clinical and molecular genetic efforts the von Hippel-Lindau (VHL) gene was cloned in 1993. The open reading frame encodes the putative protein of 284 amino acids. A large number of different mutations have been identified
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8a016a3af47dd13018e919573620456
https://doi.org/10.1111/j.1750-3639.1995.tb00592.x
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4
Desbuquois syndrome: Clinical, radiographic, and morphologic characterization
Autor: Christine R. Bryke, Bodell A, M S Golbus, Y. E. Hsia, M. Shohat, David R. Witt, Helen E. Gruber, David L. Rimoin, Hogge Wa, Ralph S. Lachman
Publikováno v: American Journal of Medical Genetics. 52:9-18
To further characterize the clinical, radiographic and chondro-osseous morphologic changes in the Desbuquois syndrome, 7 patients from three sibships are described. They all had prenatal onset severe rhizomelic and mesomelic shortness with marked joi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::459c909265d941552af6b742248753f5
https://doi.org/10.1002/ajmg.1320520104
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5
Detection of the (–SEA) double α-globin gene deletion by a simple immunologic assay for embryonic ζ-globin chains
Autor: Y. E. Hsia, J. Yuen, B. Chu, David H.K. Chui, Hong-yuan Luo, J. H. Ireland
Publikováno v: American Journal of Hematology. 44:22-28
Homozygous alpha-thalassemia [alpha-thal-1], with loss of all four alpha-globin genes, causes lethal hydrops fetalis. The most common mutation producing this syndrome is the Southeast Asian (--SEA) double alpha-globin gene deletion. Erythrocytes from
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d10ae236d11ee5582930d456dfec393
https://doi.org/10.1002/ajh.2830440106
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7
Determination of the breakpoint of the common alpha-thalassaemia deletion in Filipinos in Hawaii
Autor: J A, Hunt, L, Lee, T A, Donlon, Y E, Hsia
Publikováno v: British journal of haematology. 104(2)
The region of the crossover causing the Filipino type of alpha thalassaemia has been determined by examining similarity between the regions which had been indicated as involved in the crossover points by restriction mapping, using the published alpha
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0aa069720b4fc22ca665355cdcb8e257
https://pubmed.ncbi.nlm.nih.gov/10050709
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10
Prenatal findings in brachmann-de lange syndrome
Autor: Y E Hsia, Joseph P. Bruner
Publikováno v: Obstetrics & Gynecology. 76:966-968
Brachmann-de Lange syndrome is a congenital disorder of uncertain cause characterized by severe mental retardation, small stature, microbrachycephaly, hirsutism, limb deformities, and characteristic facies. Although more than 300 neonatal cases have
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5570894fe90c8b6f88f21510a97f214f
https://doi.org/10.1097/00006250-199011000-00062
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