Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Leonard J. Sciorra"'
Publikováno v:
Clinical Genetics. 13:271-277
A modification of immunoadsorbent column separation of T- and B-lymphocytes has been used to obtain karyotypable chromosome preparations. This method may be of some use in helping to gain further information about some mosaic conditions or the chromo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d8406ae18cf70c5f4e08c2a84b428c8
https://doi.org/10.1111/j.1399-0004.1978.tb01181.x
https://doi.org/10.1111/j.1399-0004.1978.tb01181.x
Autor:
Hungshu Wang, Lorraine F. Meisner, Lisa G. Shaffer, Shivanand R. Patil, Douglas W. Hershey, Lillian Y. F. Hsu, Gail Stetten, Christine M. Disteche, Fran Williams, Rodney R. Higgins, Colleen Jackson-Cook, Barbara F. Crandall, Gregory A. Mengden, Leonard J. Sciorra, Ann Leslie Zaslav, Roger P. Donahue, Elizabeth Keitges, Robert Wallerstein, Gabriel S. Khodr, Richard L. Neu, Frederick W. Luthardt, Daniel L. Van Dyke, Catherine Lee Bowen, Peter Benn, Lauren S. Jenkins, Maria Y. Rodriguez, Ming Tsung Yu, Chyi-Chyang Lin, Betty Harrison
Publikováno v:
Prenatal Diagnosis. 20:103-122
Karyotype–phenotype correlations of common trisomy mosaicism prenatally diagnosed via amniocentesis was reviewed in 305 new cases from a collaboration of North American cytogenetic laboratories. Abnormal outcome was noted in 10/25 (40%) cases of 47
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::712156e319e1793d86662027c03677bc
https://doi.org/10.1002/(sici)1097-0223(200002)20:2<103::aid-pd761>3.0.co
https://doi.org/10.1002/(sici)1097-0223(200002)20:2<103::aid-pd761>3.0.co
Autor:
Mike Jaffe, Willas B. Hammond, Treena L. Arinzeh, Peter Tolias, Robert T. Dombrowski, N. Sanjeeva Murthy, Nathan D. Gallant, James A. Cooper, Benjamin R. Mintz, SunMi L. Palumbo, Wan-Ju Li, Radoslaw A. Junka, Lindsay E. Daly, Xiaojun Yu, P. Sidney Sit, Leonard J. Sciorra, Aileen Arriola, Virginie M. Aris, Shayne C. Gad
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ebbf32367ad89785979c7c4a4b934649
https://doi.org/10.1016/b978-1-84569-810-2.50012-2
https://doi.org/10.1016/b978-1-84569-810-2.50012-2
Publikováno v:
American Journal of Medical Genetics. 56:141-146
Using standard cytogenetic methods coupled with molecular techniques, the following karyotype mos 45,X/46,XXq+/46,X+mar (X)/47,XXq+,+mar(X), was identified in a patient with Ullrich-Turner syndrome (UTS). High-resolution banding (n = 650) of the meta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e238d081a51273fad6f36f4eefc3416a
https://doi.org/10.1002/ajmg.1320560205
https://doi.org/10.1002/ajmg.1320560205
Publikováno v:
Journal of Pediatric Surgery. 27:1376-1380
Although girls with Turner's syndrome (45,X) are not at risk for malignancy, patients with feminizing testicular syndrome with XY chromosome composition and patients with "mixed gonadal dysgenesis" are at risk for malignancy, and bilateral gonadectom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2506b652b61b299daa2629a50cae425
https://doi.org/10.1016/0022-3468(92)90180-f
https://doi.org/10.1016/0022-3468(92)90180-f
Autor:
Carol Pittore, Franklin Desposito, Kathleen Reynolds, Hilary Tinkel-Vernon, Leonard J. Sciorra, Scott Finkernagel
Publikováno v:
American Journal of Medical Genetics. :142-143
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d88bf9f86576dd7106541de7efc14d3a
https://doi.org/10.1002/ajmg.a.10210
https://doi.org/10.1002/ajmg.a.10210
Publikováno v:
Cytogenetic and Genome Research. 95:240-241
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b643c34216c5bbdb198ca802a45c7c08
https://doi.org/10.1159/000059354
https://doi.org/10.1159/000059354
Publikováno v:
Cytogenetic and Genome Research. 95:238-239
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e40fdb3e824f032b516a3b900bf0bd97
https://doi.org/10.1159/000059353
https://doi.org/10.1159/000059353
Publikováno v:
Cytogenetic and Genome Research. 93:143-144
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::be133bf0837794b595ed7c3c49534c03
https://doi.org/10.1159/000056971
https://doi.org/10.1159/000056971
Autor:
Debra Day-Salvadore, Sheila Brady-Yasbin, Charles Hux, Julie Frybury, David E. Mandelbaum, Miriam S. DiMaio, Ming-liang Lee, Maurice J. Mahoney, Leonard J. Sciorra
Publikováno v:
Prenatal diagnosis. 12(6)
This paper reports a case of chromosomal mosaicism for trisomy 5 recovered from amniotic fluid cells and from skin fibroblasts of a liveborn dysmorphic male. Routine amniocentesis was performed at 16 weeks' gestation because of parental concern. Tris
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1334745f4d6fa958f2a8347e96979714
https://pubmed.ncbi.nlm.nih.gov/1513753
https://pubmed.ncbi.nlm.nih.gov/1513753