Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Y. Edward Hsia"'
Publikováno v:
Journal of Pediatric Orthopedics. 23:88-93
Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder affecting skeletal development. The patients have a striking "barrel-shape" chest, shortened trunk, and various distal deformities, including genu valgum or varum, and mini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::44a06c92fd52b2e04fd8817ea9bc8590
https://doi.org/10.1097/00004694-200301000-00018
https://doi.org/10.1097/00004694-200301000-00018
Publikováno v:
Journal of Pediatric Orthopaedics. 23:88-93
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4f701a97a9c9334d47f61f53797b621d
https://doi.org/10.1097/01241398-200301000-00018
https://doi.org/10.1097/01241398-200301000-00018
Autor:
George W. Henry, William R. Wilcox, Y. Edward Hsia, Berkley R. Powell, David L. Rimoin, Juliet Yuen, Kent A. Reinker
Publikováno v:
Journal of Pediatric Orthopaedics. 22:399-403
Two patients with Marinesco-Sjogren syndrome had striking orthopaedic abnormalities that seemed to arise from multiple areas of physeal growth arrest. Major involvement was seen in the distal femora, where bilateral hypoplasia of the lateral condyles
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9f58fd15c992a39cd4bd47f315bc6fd7
https://doi.org/10.1097/01241398-200205000-00027
https://doi.org/10.1097/01241398-200205000-00027
Publikováno v:
British Journal of Haematology. 104:284-287
The region of the crossover causing the Filipino type of α 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 α-globi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a4c7ccda1d20cc1c22b1e805de091908
https://doi.org/10.1046/j.1365-2141.1999.01175.x
https://doi.org/10.1046/j.1365-2141.1999.01175.x
Autor:
David L. Rimoin, I. Merete Rasmussen, Michael D. Briggs, Peter J. Roughley, Helen E. Gruber, Matthew L. Warman, Bjorn R. Olsen, Y. Edward Hsia, Juliet Yuen, Kent Reinker, Ann P. Garber, Judy Grover, Ralph S. Lachman, Daniel H. Cohn
Publikováno v:
Human Genetics. 93:236-242
We have identified a large family with a dominantly inherited chondrodysplasia characterized by a waddling gait, short limbs, and early onset osteoarthritis. The radiographic presentation resembles pseudoachondroplasia in childhood and multiple epiph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edc2f6559a66f1e1f3efbd3dbe7882e2
https://doi.org/10.1007/bf00212015
https://doi.org/10.1007/bf00212015
Publikováno v:
Journal of Pediatric Surgery. 34:1853-1855
Both pigmentation and otic defects of Waardenburg Syndrome and Hirschsprung's disease have a common origin in neural crest cells and were described in 1951 and 1887, respectively. The clinical manifestations of both in the same patient were described
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38c92acd021e2408b87808d731d7afea
https://doi.org/10.1016/s0022-3468(99)90330-5
https://doi.org/10.1016/s0022-3468(99)90330-5
Publikováno v:
Journal of pediatric orthopedics. 23(1)
Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder affecting skeletal development. The patients have a striking "barrel-shape" chest, shortened trunk, and various distal deformities, including genu valgum or varum, and mini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0bb7e099b0b0c8f3ae6da6fc97b852dc
https://pubmed.ncbi.nlm.nih.gov/12499951
https://pubmed.ncbi.nlm.nih.gov/12499951
Autor:
Kent, Reinker, Y Edward, Hsia, David L, Rimoin, George, Henry, Juliet, Yuen, Berkley, Powell, William R, Wilcox
Publikováno v:
Journal of pediatric orthopedics. 22(3)
Two patients with Marinesco-Sjögren syndrome had striking orthopaedic abnormalities that seemed to arise from multiple areas of physeal growth arrest. Major involvement was seen in the distal femora, where bilateral hypoplasia of the lateral condyle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e4ed3db47f41118867159f9d345b235d
https://pubmed.ncbi.nlm.nih.gov/11961464
https://pubmed.ncbi.nlm.nih.gov/11961464
Autor:
Fan Chen, Takeshi Kishida, Masahiro Yao, Thomas Hustad, Damjan Glavac, Michael Dean, James R. Gnarra, Mary Lou Orcutt, Fuh Mei Duh, Gladys Glenn, Jane Green, Y. Edward Hsia, James Lamiell, Hua Li, Ming Hui Wei, Laura Schmidt, Kalman Tory, Igor Kuzmin, Tom Stackhouse, Farida Latif, W. Marston Linehan, Michael Lerman, Berton Zbar
Publikováno v:
Human mutation. 5(1)
von Hippel-Lindau disease (VHL) is an inherited neoplastic disease characterized by a predisposition to develop retinal angiomas, central nervous system hemangioblastomas, renal cell carcinomas, pancreatic cysts, and pheochromocytomas. The VHL gene w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::362a16a77b2bbac8bcc6d0003719de74
https://pubmed.ncbi.nlm.nih.gov/7728151
https://pubmed.ncbi.nlm.nih.gov/7728151
Autor:
Y. Edward Hsia
Publikováno v:
Hepatology. 11:327-328
Genetic disorders were identified infrequently among children presenting with Reye's syndrome in the past. During a two-year period, we evaluated four consecutive patients referred for intensive care of Reye's syndrome. A standard investigation for i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02e51702207d1538076f05e4b8f08497
https://doi.org/10.1002/hep.1840110228
https://doi.org/10.1002/hep.1840110228