Zobrazeno 1 - 6
of 6
pro vyhledávání: '"L M, Pasztor"'
Autor:
A E, Wandstrat, J M, Conroy, V L, Zurcher, L M, Pasztor, B A, Clark, J L, Zackowski, S, Schwartz
Publikováno v:
American journal of medical genetics. 94(2)
Five families in which an Xp deletion is segregating and two families in which an X chromosome rearrangement including a deletion of the short arm is segregating were ascertained for study. Normal fertility was seen in all families. Members from 5 of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6370a15d64efb203f736acd980fc76ad
https://pubmed.ncbi.nlm.nih.gov/11746034
https://pubmed.ncbi.nlm.nih.gov/11746034
Autor:
S, Schwartz, T W, Depinet, J, Leana-Cox, N B, Isada, E M, Karson, V M, Park, L M, Pasztor, L C, Sheppard, R, Stallard, D J, Wolff, A B, Zinn, V L, Zurcher, J L, Zackowski
Publikováno v:
American journal of medical genetics. 71(1)
Fluorescence in situ hybridization (FISH) using biotin labeled X- and Y-chromosome DNA probes was utilized in the analysis of 23 sex chromosome-derived markers. Specimens were obtained through prenatal diagnosis, because of a presumptive diagnosis of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d9df832b2b05da42f4be08c6c7a999c6
https://pubmed.ncbi.nlm.nih.gov/9215760
https://pubmed.ncbi.nlm.nih.gov/9215760
Publikováno v:
American journal of human genetics. 56(6)
The cri-du-chat syndrome is a contiguous gene syndrome that results from a deletion of the short arm of chromosome 5 (5p). Patients present with a cat-like cry at birth, which is usually considered diagnostic of this syndrome. Additional features of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::752578453d56633837cb01a3322ccaa2
https://pubmed.ncbi.nlm.nih.gov/7762563
https://pubmed.ncbi.nlm.nih.gov/7762563
Publikováno v:
JNCI: Journal of the National Cancer Institute. 52:1143-1150
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d63e3560c886f61bb6937ce21e90d98b
https://doi.org/10.1093/jnci/52.4.1143
https://doi.org/10.1093/jnci/52.4.1143
Publikováno v:
Journal of the National Cancer Institute. 52(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::328b69a7f9160205f4a0c29cfd17caca
https://pubmed.ncbi.nlm.nih.gov/4826585
https://pubmed.ncbi.nlm.nih.gov/4826585
Autor:
L M, Pasztor, F, Hu
Publikováno v:
Cancer research. 32(8)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7a476365ad18bb08cc287c08d851e514
https://pubmed.ncbi.nlm.nih.gov/5044135
https://pubmed.ncbi.nlm.nih.gov/5044135