Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Chromosomal structural abnormalities"'
Publikováno v:
Acta Medica Iranica, Vol 55, Iss 10 (2017)
Pericentric inversion of Chromosome 9 is one of the most common chromosomal abnormalities, which could be associated with various manifestations in some cases. Herein, a patient is presented with ambiguous genitalia that karyotyping revealed pericent
Externí odkaz:
https://doaj.org/article/9ccb883efa404322bebcfc867c2f9de4
Publikováno v:
Journal of Fetal Medicine. :17-23
Abstract No single invention in the past has created such a rapid and massive impact on clinical obstetric practice as the introduction of noninvasive prenatal screening (NIPS) for chromosomal abnormalities using cell-free DNA in maternal plasma. How
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::187e272a6454e5ad6a4bbfc5ce36ab90
https://doi.org/10.1007/s40556-019-00229-3
https://doi.org/10.1007/s40556-019-00229-3
Publikováno v:
International Journal of Women's Health
Jing Wang,1,* Xin-xin Tang,2,* Qin Zhou,1 Shuting Yang,2 Ye Shi,1 Bin Yu,1 Bin Zhang,1 Lei-lei Wang2 1Changzhou Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Changzhou, 213003, Jiangsu Province, Peopleâ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46f28e92ef6f3a2ff3bdfa8cdc3f160d
https://pubmed.ncbi.nlm.nih.gov/34588820
https://pubmed.ncbi.nlm.nih.gov/34588820
Autor:
Kazuko Iida, Saeko Kutsunugi, Tsugiko Gima, Kumiko Tsujino, Yumiko Endoh, Kyoko Murakami, Yoko Tamashiro, Jun Kobayashi, Teresa E. Stone
Publikováno v:
Japan Journal of Nursing Science. 18
Purpose This study aimed to investigate the process mothers go through in coming to terms with raising a child with chromosomal structural abnormalities. Methods Sixteen mothers living in Japan were interviewed and a modified grounded theory approach
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7cb7905d8124420bc12d5d94a51bf52
https://doi.org/10.1111/jjns.12387
https://doi.org/10.1111/jjns.12387
Autor:
Andre Goy, Jeffrey Estella, James K. McCloskey, Andrew Ip, Jamie Koprivnikar, Andrew L. Pecora, Ivan De Dios, Wanlong Ma, Maher Albitar
Publikováno v:
Blood. 138:3463-3463
Introduction: Cytogenetic analysis is important for stratifying patients with various myeloid neoplasms. It has been reported that whole-genome sequencing can be used as an alternative to cytogenetic analysis in acute myeloid leukemia (AML) and myelo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3f54f2fbf92216718fcd28658667d57a
https://doi.org/10.1182/blood-2021-148164
https://doi.org/10.1182/blood-2021-148164
Autor:
Anthony N. Imudia, Shayne Plosker
Publikováno v:
Clinics in Laboratory Medicine. 36:385-399
Preimplantation genetic testing (PGT) of oocytes and embryos is the earliest form of prenatal testing. PGT requires in vitro fertilization for embryo creation. In the past 25 years, the use of PGT has increased dramatically. The indications of PGT in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34b5b69141e70bf7111c1af4c1b3d3bb
https://doi.org/10.1016/j.cll.2016.01.012
https://doi.org/10.1016/j.cll.2016.01.012
Autor:
Erin K. Roney, Sau Wai Cheung, Carlos A. Bacino, Ankita Patel, Srirangan Sampath, Justin Pham, James R. Lupski, Weimin Bi, Tomasz Gambin, Patricia Hixson, Seema R. Lalani, Amber Pursley, Pawel Stankiewicz, Chad A. Shaw, Sung-Hae L. Kang
Publikováno v:
European Journal of Human Genetics
Somatic chromosomal mosaicism arising from post-zygotic errors is known to cause several well-defined genetic syndromes as well as contribute to phenotypic variation in diseases. However, somatic mosaicism is often under-diagnosed due to challenges i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60960dc60b4815184cf9e2f4f418f758
http://europepmc.org/articles/PMC4350600
http://europepmc.org/articles/PMC4350600
Akademický článek
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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Autor:
K. Wiemer, J. Skorupski, M. Opshal, Santiago Munné, A. Suhotliv, Tomas Escudero, John Garrisi, L. Ribustello
Publikováno v:
Fertility and Sterility. 102:e94
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f05ffeb75bb699b280f3408fee25865e
https://doi.org/10.1016/j.fertnstert.2014.07.321
https://doi.org/10.1016/j.fertnstert.2014.07.321