Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Distal 18q"'
Autor:
Wayseen Wang, Fang-Tzu Wu, Shin-Wen Chen, Chen-Yu Chen, Peih-Shan Wu, Chih-Ping Chen, Schu-Rern Chern, Li-Feng Chen
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 58, Iss 5, Pp 704-708 (2019)
Objective: We present detection of de novo del(18)(q22.2) and a familial 15q13.2-q13.3 microduplication in a fetus with congenital heart defects (CHD). Case report: A 27-year-old, primigravid woman was referred for genetic counseling because of fetal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c4f95eea960cf950d1dc56e4b1dd414
http://www.sciencedirect.com/science/article/pii/S1028455919301779
http://www.sciencedirect.com/science/article/pii/S1028455919301779
Autor:
Tomas Jurko, Alexander Jurko, Jana Krsiakova, Milan Minarik, Michal Mestanik, Ingrid Tonhajzerova
Publikováno v:
Progress in Pediatric Cardiology. 53:51-53
Among the rare chromosome abnormalities compatible with life, partial monosomy of chromosome 18 is a relatively frequent chromosomal aberration. The affected individuals are at relatively increased risk of having congenital cardiac defects with the p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1d73329e524fac34a3dbc638ef240366
https://doi.org/10.1016/j.ppedcard.2018.12.001
https://doi.org/10.1016/j.ppedcard.2018.12.001
Publikováno v:
Abstracts Accepted for Publication.
Background Monosomy 18p is a rare chromosomal disease resulting from complete or partial deletion of chromosome 18 short arm. It is associated with a variable phenotypic spectrum. Most reported patients have holoprosencephaly, developmental delay, sh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1e81b074420901232fbd34d7290538aa
https://doi.org/10.1136/annrheumdis-2019-eular.3774
https://doi.org/10.1136/annrheumdis-2019-eular.3774
Publikováno v:
International Journal of Scientific Reports. 7:137
Distal 18q deletion syndrome, and ring chromosome 18 are structural abnormalities involving chromosome 18. Distal or terminal deletion event is characterized by deletion of a region from the terminal end of a chromosome, while in ring chromosome, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bb363924ccb433b9d541f7a5cf83f886
https://doi.org/10.18203/issn.2454-2156.intjscirep20210098
https://doi.org/10.18203/issn.2454-2156.intjscirep20210098
Autor:
Bridgette Soileau, Jonathan Gelfond, William B. Daviss, Patricia Heard, Louise O'Donnell, Daniel E. Hale, Erika Carter, Jannine D. Cody, Steven R. Pliszka
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 162:879-888
We examined 36 participants at least 4 years old with hemizygous distal deletions of the long arm of Chromosome 18 (18q-) for histories of mood disorders and to characterize these disorders clinically. Since each participant had a different region of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cd99d24244060de144f9658b08e2840
https://doi.org/10.1002/ajmg.b.32197
https://doi.org/10.1002/ajmg.b.32197
Autor:
Ji-Soo Song, Euj-Ji Lee, Teo-Jeon Shin, Young-Jae Kim, Chong-Chul Kim, Ki-Taeg Jang, Sang-Hoon Lee, Jung-Wook Kim, Hong-Keun Hyun
Publikováno v:
The Journal of Korea Assosiation for Disability and Oral Health. 9:42-45
De Grouchy syndrome or Distal 18q- is a genetic condition caused by a deletion of genetic material within chromosome 18, and the deletion involves the distal section of 18q. It causes a wide range of medical and developmental concerns. Congenital ort
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9f221282a6f965235ae06de3dbf2490b
https://doi.org/10.12655/jkdoh.2013.9.1.42
https://doi.org/10.12655/jkdoh.2013.9.1.42
Akademický článek
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Publikováno v:
F1000Research. 6:1940
Ring chromosome 18 has a highly variable phenotype, depending on the extent of distal arm deletions. It is most commonly presented as a combination of 18p- and distal 18q- syndrome. IgA deficiency and autoimmune diseases have been previously describe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c0dd37e7a5db7e7ccf439f54629daafb
https://doi.org/10.12688/f1000research.11539.2
https://doi.org/10.12688/f1000research.11539.2
Autor:
Jannine D. Cody, Brian Perry
Publikováno v:
The Laryngoscope. 124(11)
Objectives/Hypothesis To fully describe the otologic features seen in individuals with deletions of the distal long arm of chromosome 18 (distal 18q-). Study Design Cross-sectional/observational. Methods More than 200 individuals with deletions of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91552e1e68a712a965c880e7f8464fbd
https://pubmed.ncbi.nlm.nih.gov/24912803
https://pubmed.ncbi.nlm.nih.gov/24912803
Autor:
Minire Hasi, Patricia Heard, Bridgette Soileau, Brian Perry, Louise O'Donnell, Jannine D. Cody, Daniel E. Hale, Robert F. Stratton, Courtney Sebold, Erika Carter
Publikováno v:
Human genetics. 133(2)
Although constitutional chromosome abnormalities have been recognized since the 1960s, clinical characterization and development of treatment options have been hampered by their obvious genetic complexity and relative rarity. Additionally, deletions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac7e68d1b29faffd5c388f9c654c4ddb
https://pubmed.ncbi.nlm.nih.gov/24092497
https://pubmed.ncbi.nlm.nih.gov/24092497