Zobrazeno 1 - 10
of 37
pro vyhledávání: '"B. Rafael Elejalde"'
Publikováno v:
Indian journal of pediatrics. 53(4)
Phenotypic analysis has been practised in many different ways, the most common being the recognition of normal and abnormal physical and biochemical characteristics and their patterns of inheritance. As different tools became available to analyze the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10df1ed3796e9be435bd54ed0dfd9ee8
https://pubmed.ncbi.nlm.nih.gov/28391568
https://pubmed.ncbi.nlm.nih.gov/28391568
Autor:
Janet S. Payne, Ardis Sophian, Susan Arnold, B. Rafael Elejalde, Leslie A. Willis, Ann Wiktor, Wei-Tong Hsu, Gerald A. Hoeltge, Eric B. Johnson, Rodney R. Higgins, LeAnn Oseth, Susan Sheldon, Lorraine F. Meisner, James M. Fink, Peter Van Tuinen, Gordon W. Dewald, Julie Zenger-Hain, Jar-Fee Yung, Gail D. Wenger, Stuart Schwartz, Patrick D. Storto, Mark A. Micale, Richard Stallard, Tina M. Ceperich, A. Alsaadi, Ruthann I. Blough, D. James McCorquodale, Diane L Kronberger, Higgins Jv
Publikováno v:
Cancer Genetics and Cytogenetics. 116:97-104
Twenty-eight laboratories evaluated a new fluorescence in situ hybridization (FISH) strategy for chronic myeloid leukemia. In a three-part study, bcr/abl1 D-FISH probes were used to study bone marrow specimens. First, laboratories familiarized themse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b6cae9416f89cfa7ca7b524ae5ee0d7
https://doi.org/10.1016/s0165-4608(99)00120-x
https://doi.org/10.1016/s0165-4608(99)00120-x
Autor:
Patricia I. Bader, Susan Scheib-Wixted, Wei Tong Hsu, Virginia Kubic, Gerald A. Hoeltge, Jar Fee Yung, Ann Wiktor, Susan Arnold, Kathy Strole, Alan R. Zinsmeister, Steven Siembieda, J. W. Moore, Gail H. Vance, D. James McCorquodale, Peter vanTuinen, Julie Zenger-Hain, Mark A. Micale, Richard Stallard, Rosalie M. Phillips, Catherine J. Harris, A. A.I. Saadi, B. Rafael Elejalde, Stuart Schwartz, Rodney R. Higgins, Laura Wise, Ruthann Blough, Kathy Chen, Gordon W. Dewald
Publikováno v:
American Journal of Medical Genetics. 76:318-326
Twenty-six laboratories used X and Y chromosome probes and the same procedures to process and examine 15,600 metaphases and 49,400 interphases from Phaseolus vulgaris-leucoagglutinin (PHA)-stimulated lymphocytes. In Part I, each laboratory scored 50
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dfc4397e749bce51d961a0687ae467db
https://doi.org/10.1002/(sici)1096-8628(19980401)76:4<318::aid-ajmg7>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19980401)76:4<318::aid-ajmg7>3.0.co
Autor:
Emmanuèle Délot, B. Rafael Elejalde, Phoebe Dewing, Brian K. Jordan, Saunders T. Ching, Xiao Ning Chen, P. Nagesh Rao, Mansoor Mohammed, Amanda Swain, Eric Vilain
Wnt-4, a member of the Wnt family of locally acting secreted growth factors, is the first signaling molecule shown to influence the sex-determination cascade. In mice, a targeted deletion of Wnt-4 causes the masculinization of XX pups. Therefore, WNT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27baf0584935cfe983903026fe01b4ac
https://europepmc.org/articles/PMC1226091/
https://europepmc.org/articles/PMC1226091/
Publikováno v:
Scopus-Elsevier
nous porphyrins after exogenous administration of ALA. The same studies also showed that inactivation of ALA-treated T cell lymphoma Eb-Esb cells occurred after photoexcitation by visible light. Malik et a1.9 speculated that the accumulation of porph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65bcd124f8c49f1cc63f8f0210471a59
https://pubmed.ncbi.nlm.nih.gov/8089303
https://pubmed.ncbi.nlm.nih.gov/8089303
Autor:
Roger R. Lenke, Wayne Persutte, B. Rafael Elejalde, Adriana Soto, Thomas Mathews, Maria Mercedes de Elejalde, RamS. Verma
Publikováno v:
The Lancet. 345:924-925
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aceb5bfbda5eded8e409a700122afac4
https://doi.org/10.1016/s0140-6736(95)90037-3
https://doi.org/10.1016/s0140-6736(95)90037-3
Publikováno v:
Prenatal Diagnosis. 13:1165-1166
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b1cfc45c2ff3cb71d08cc01c54b6ac38
https://doi.org/10.1002/pd.1970131219
https://doi.org/10.1002/pd.1970131219
Publikováno v:
American Journal of Medical Genetics. 36:517-517
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::55e1a25232c812eed4395fc19f81fdd8
https://doi.org/10.1002/ajmg.1320360430
https://doi.org/10.1002/ajmg.1320360430
Publikováno v:
American Journal of Medical Genetics. 22:669-683
This paper describes two fetuses with thanatophoric dysplasia (TD) diagnosed in utero by ultrasonography. The fetuses were found to have severely short (less than 3rd centile), mildly bowed bones in one of them at 20 weeks and straight bones in the o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::302e7e8be89f2c46dbb1d7c310498928
https://doi.org/10.1002/ajmg.1320220404
https://doi.org/10.1002/ajmg.1320220404
Publikováno v:
American Journal of Medical Genetics. 21:417-432
We examined 10 fetuses with nuchal cysts and compared the findings with 32 cases from the literature. Based on their characteristics, we propose that nuchal cysts are signs of four causally and pathogenetically different entities: cystic nuchal blebs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d63e525a17ea09a9036a7f2b6f357600
https://doi.org/10.1002/ajmg.1320210303
https://doi.org/10.1002/ajmg.1320210303