Zobrazeno 1 - 10
of 4 479
pro vyhledávání: '"Chromosomal region"'
Autor:
T. V. Karamysheva, I. N. Lebedev, L. I. Minaycheva, L. P. Nazarenko, A. A. Kashevarova, D. A. Fedotov, N. A. Skryabin, M. E. Lopatkina, A. D. Cheremnykh, E. A. Fonova, T. V. Nikitina, E. A. Sazhenova, M. M. Skleimova, N. A. Kolesnikov, G. V. Drozdov, Y. S. Yakovleva, G. N. Seitova, K. E. Orishchenko, N. B. Rubtsov
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Pallister-Killian syndrome (PKS) is a rare inherited disease with multiple congenital anomalies, profound intellectual disability, and the presence in the karyotype of sSMC - i(12)(p10). The frequency of PKS may be underestimated due to problems with
Externí odkaz:
https://doaj.org/article/88afa4cfc61a4a5da256eddbcc50ab10
Akademický článek
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Akademický článek
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Autor:
Laura Frazão, Maria do Carmo Martins, Vasco Moura Nunes, José Pimentel, Claudia Faria, José Miguéns, Amets Sagarribay, Mário Matos, Duarte Salgado, Sofia Nunes, Manuela Mafra, Lúcia Roque
Publikováno v:
BMC Cancer, Vol 18, Iss 1, Pp 1-10 (2018)
Abstract Background Genetic alterations in pediatric primary brain tumors can be used as diagnostic and prognostic markers and are the basis for the development of new target therapies that, ideally, would be associated with lower mortality and morbi
Externí odkaz:
https://doaj.org/article/c72b7dc5a4694c06ae126b503517acdb
Роль наследственной отягощенности в развитии ишемической болезни сердца (ИБС) не вызывает сомнений. При этом механизмы реализации данн
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::de8b81623824ea154a2e141d6df7eccc
Autor:
Xinjie Xu, Patricia T. Greipp, George Vasmatzis, Horatiu Olteanu, Patrick W. McGarrah, Daniel L. Van Dyke, Nicole L. Hoppman, Sarah H. Johnson, Rhett P. Ketterling, Jess F. Peterson, Alaa Koleilat, James B. Smadbeck, Mrinal S. Patnaik, Linda B. Baughn
Publikováno v:
Cancer Genetics. :1-5
The t(4;12)(q12;p13) has been rarely reported in both myeloid/lymphoid neoplasms with eosinophilia (ETV6/PDGFRA gene fusion) and acute myeloid leukemia (AML) (ETV6/CHIC2 gene fusion). The ability to accurately characterize t(4;12) is critical as myel
Autor:
Cisem Mail, Yasemin Ozen, Selma Demir, Emine Ikbal Atli, Engin Atli, Sinem Yalcintepe, Damla Eker, Hakan Gurkan
Publikováno v:
Global Medical Genetics, Vol 09, Iss 01, Pp 042-050 (2022)
Objective A significant number of genetic variations have been identified in chromosome 22, using molecular genetic techniques. Various genomic disorders on chromosome 22, including cat's eye syndrome caused by extra copies of the proximal region of
Autor:
Theera Tongsong, Takol Chareonsirisuthigul, Panarat Sirikunalai, Sirinart Sirilert, Kuntharee Traisrisilp
Publikováno v:
Journal of Obstetrics and Gynaecology Research. 48:239-243
We describe a unique case of a pregnancy with fetal Prader-Willi syndrome (PWS). A 40-year-old pregnant woman prenatally presented with polyhydramnios, decreased fetal movements, fetal growth restriction with normal Doppler study, and fetal cardiac r
Autor:
Danh Tuyen Le, Shuhei Ueda, Kouta Hamamoto, Kim Ngan Thi Bui, Itaru Hirai, Mai Huong Thi Bui, Nobuyoshi Yagi, Saki Tawata
Publikováno v:
Journal of Infection and Chemotherapy. 27:1288-1294
Introduction Because blaCTX-M is responsible for resistance of bacteria to the third generation cephalosporins, location of blaCTX-M could be a good indicator for classifying bacterial isolates harboring blaCTX-M in molecular epidemiology. However, d
Autor:
Liu Deng-cai, Ning Shunzong, Wang JiRui, Zheng You-liang, Yuan Zhong-wei, Luo Jiang-tao, Zhang Lianquan, Hao Ming, Huang Lei, Xie Die, Zhao Lai-bin, Jiang Bo, Zhang Shu-jie
Publikováno v:
Journal of Integrative Agriculture. 20:2333-2342
The bread wheat genome harbors a high content of repetitive DNA, which is amenable to detection and characterization using fluorescence in situ hybridization (FISH) karyotyping. An integrated genetic map was derived from a recombinant inbred populati