Zobrazeno 1 - 10
of 89
pro vyhledávání: '"J. T. Mascarello"'
Publikováno v:
Cytogenetic and Genome Research. 86:194-203
The physical and genetic characterization of a stable human minichromosome in a Chinese hamster hybrid cell is described. The minichromosome is 2–3 Mb in size, is linear, and contains a complementing SDHC gene. It is derived from a human chromosome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::93783bf48424833133b4b99b8e609208
https://doi.org/10.1159/000015338
https://doi.org/10.1159/000015338
High incidence of XXY and XYY males among the offspring of female chimeras from embryonic stem cells
Publikováno v:
Scopus-Elsevier
Injecting male embryonic stem cells into the blastocoel of female embryos occasionally produces female chimeras capable of transmitting the embryonic stem cell genome. In our experiments several embryonic stem cell-derived male offspring from female
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd21d20be92054c38756229dfeff5e45
https://doi.org/10.1073/pnas.92.8.3120
https://doi.org/10.1073/pnas.92.8.3120
Publikováno v:
Prenatal Diagnosis. 14:163-165
We report the detection of a mosaic triple trisomy, 46, XY/49, XY, + 13, +20, +21, in two amniotic fluid specimens obtained from a pregnancy that yielded a normal infant. Traditional cytogenetic methods failed to detect the abnormal cell lineage in f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7192a65d37674b27e198b179c97160b
https://doi.org/10.1002/pd.1970140303
https://doi.org/10.1002/pd.1970140303
Autor:
L M, Bird, J T, Mascarello
Publikováno v:
American journal of medical genetics. 100(1)
A patient with dir dup 2(q37.1q33.1) is described. Literature review of chromosome 2q duplications suggests a consistent, though nonspecific, facial phenotype. Segregation of those cases that are "pure" duplications from those with accompanying monos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d5e66e8099f853986d4ab1e029e36873
https://pubmed.ncbi.nlm.nih.gov/11337743
https://pubmed.ncbi.nlm.nih.gov/11337743
Publikováno v:
Cytogenetics and cell genetics. 86(3-4)
The physical and genetic characterization of a stable human minichromosome in a Chinese hamster hybrid cell is described. The minichromosome is 2-3 Mb in size, is linear, and contains a complementing SDHC gene. It is derived from a human chromosome 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6480bbe8f9cdaef16c1052e3d26d8d41
https://pubmed.ncbi.nlm.nih.gov/10575205
https://pubmed.ncbi.nlm.nih.gov/10575205
Publikováno v:
American journal of medical genetics. 70(1)
A female patient with the karyotype 45,X/46, X, r(X)(p11.2 q13) and severe developmental delay, prominent fingertip pads, long palpebral fissures, short stature, and history of hypotonia had a phenotype reminiscent of Kabuki syndrome. We hypothesized
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c1721b0670e6edeaaf031bdb32273e8a
https://pubmed.ncbi.nlm.nih.gov/9129739
https://pubmed.ncbi.nlm.nih.gov/9129739
Publikováno v:
Journal of Investigative Medicine. 53:S135.5-S135
The karyotype 46,X,isodicentric Y has rarely been reported in the context of prenatal diagnosis. The literature, however, is replete with descriptions of individuals who are 46,X isodicentric Y/45,X, presenting with a spectrum of phenotypes from Turn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2e571e15068d653bda3b93e6f68f22ab
https://doi.org/10.2310/6650.2005.00005.327
https://doi.org/10.2310/6650.2005.00005.327
Publikováno v:
Journal of Mammalogy. 55:831-834
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9d2357f9a3b0e54c3ee332618731770b
https://doi.org/10.2307/1379412
https://doi.org/10.2307/1379412
Publikováno v:
Journal of Mammalogy. 55:695-704
The Giemsa banding pattern of the karyotype of Neotoma micropus is compared with the banding patterns of seven other rodent species that are progressively more distantly related to N. micropus . Results of comparisons imply that there is a tendency f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9a8814286766be2e93b0d446cb2226a5
https://doi.org/10.2307/1379401
https://doi.org/10.2307/1379401
Autor:
Ronald V. Lacro, Kenneth Lyons Jones, J. T. Mascarello, Oliver W. Jones, Nevin Wilson, Marilyn C. Jones, James F. Reynolds
Publikováno v:
American Journal of Medical Genetics. 26:719-728
Four children and one spontaneously aborted fetus from 2 separate families have a similar pattern of malformation secondary to duplication of distal 15q. In both families, the abnormal chromosomes were derived from balanced reciprocal translocations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b09d4c59fb36dfc3401a0ed00a4e77e
https://doi.org/10.1002/ajmg.1320260327
https://doi.org/10.1002/ajmg.1320260327