Zobrazeno 1 - 10
of 75
pro vyhledávání: '"Duplication/deletion"'
Autor:
Stuti Tewari, Naznin Lubna, Raju Shah, Ahmed B. H. Al-Rikabi, Krati Shah, Jayesh Sheth, Frenny Sheth
Publikováno v:
Molecular Cytogenetics, Vol 10, Iss 1, Pp 1-5 (2017)
Abstract Background Ring chromosome 15 is a rare genetic entity. Only a few cases have been reported with characterization using molecular techniques. The clinical presentation is quite variable, as a result of differences in the breakpoints, haploin
Externí odkaz:
https://doaj.org/article/0fc5ddd3b4c34dad8e285a93a4349797
Autor:
Chih-Ping Chen, Tsang-Ming Ko, Wen-Chu Huang, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Chen-Wen Pan, Chien-Wen Yang, Wayseen Wang
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 55, Iss 3, Pp 415-418 (2016)
Objective: To present molecular cytogenetic characterization of inv dup del(8p) in a fetus with congenital malformations. Materials and Methods: A 19-year-old, primigravid woman underwent cord blood sampling at 31 weeks of gestation because of prenat
Externí odkaz:
https://doaj.org/article/f162fc3e64214cf78c5af877e392e5c5
Autor:
Chih-Ping Chen, Yung-Ting Kuo, Shuan-Pei Lin, Yi-Ning Su, Yann-Jang Chen, Rui-Yuan Hsueh, Yi-Hui Lin, Pei-Chen Wu, Chen-Chi Lee, Yu-Ting Chen, Wayseen Wang
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 49, Iss 3, Pp 327-332 (2010)
Objective: To present the perinatal findings and molecular cytogenetic analysis of a rare chromosomal abnormality involving structural and numerical abnormalities of chromosome 18. Materials, Methods and Results: A 36-year-old woman, gravida 5, para
Externí odkaz:
https://doaj.org/article/b621a730910c47e2bf158dc3464870a0
Publikováno v:
SSRN Electronic Journal.
We describe a 5-year-old girl who was diagnosed at birth with 18q de novo homogeneous deletion at G-banding karyotype. Her clinical condition, characterized by hypotonia, psychomotor retardation, short stature, deafness secondary to bilateral atresia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff17aa8d962c23e087ac3972cbf7f406
https://doi.org/10.2139/ssrn.4149502
https://doi.org/10.2139/ssrn.4149502
Akademický článek
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Autor:
Roseline Vibert, Cyril Mignot, Boris Keren, Sandra Chantot‐Bastaraud, Marie‐France Portnoï, Marie‐Christine Nouguès, Marie‐Laure Moutard, Anne Faudet, Sandra Whalen, Damien Haye, Catherine Garel, Nicolas Chatron, Massimiliano Rossi, Catherine Vincent‐Delorme, Odile Boute, Bruno Delobel, Joris Andrieux, Françoise Devillard, Charles Coutton, Jacques Puechberty, Céline Pebrel‐Richard, Cindy Colson, Marion Gerard, Chantal Missirian, Sabine Sigaudy, Tiffany Busa, Martine Doco‐Fenzy, Valérie Malan, Marlène Rio, Bérénice Doray, Damien Sanlaville, Jean‐Pierre Siffroi, Delphine Héron, Solveig Heide
Publikováno v:
Clinical Genetics
Clinical Genetics, 2022, 101 (3), pp.307-316. ⟨10.1111/cge.14096⟩
Clinical Genetics, 2022, 101 (3), pp.307-316. ⟨10.1111/cge.14096⟩
International audience; Inverted duplication deletion 8p [invdupdel(8p)] is a complex and rare chromosomal rearrangement that combines a distal deletion and an inverted interstitial duplication of the short arm of chromosome 8. Carrier patients usual
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2105f721b0cce4c780286d83238add0
https://pubmed.ncbi.nlm.nih.gov/34866188
https://pubmed.ncbi.nlm.nih.gov/34866188
Autor:
Mohandas, T., Geller, Robin L., Yen, Pauline H., Rosendorff, Jennifer, Bernstein, Renee, Yoshida, Akira, Shapiro, Larry J.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1987 Jul . 84(14), 4954-4958.
Externí odkaz:
https://www.jstor.org/stable/30308
Publikováno v:
G3: Genes|Genomes|Genetics
The heavy selection pressure due to intensive breeding of Brassica napus has created a narrow gene pool, limiting the ability to produce improved varieties through crosses between B. napus cultivars. One mechanism that has contributed to the adaptati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90e0ed31da617c6b305fb053821dcb5d
https://doi.org/10.1534/g3.118.200118
https://doi.org/10.1534/g3.118.200118
Akademický článek
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Akademický článek
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