Zobrazeno 1 - 10
of 130
pro vyhledávání: '"Single gene disorder"'
Autor:
Alshamlani LK, Alsulaim DS, Alabbad RS, Alhoshan AA, Alkhoder JF, Alsaleh NS, Almannai M, Ababneh F, Algattan M, Alsini L, Alswaid AF, Eyaid WM, Al Mutairi F, Umair M, Alfadhel M
Publikováno v:
The Application of Clinical Genetics, Vol Volume 17, Pp 151-158 (2024)
Lamia K Alshamlani,1 Dana S Alsulaim,1 Raghad S Alabbad,1 Ahad A Alhoshan,1 Joud F Alkhoder,1 Norah S Alsaleh,2 Mohammed Almannai,1– 3 Faroug Ababneh,2 Manal Algattan,4 Lojain Alsini,4 Abdulrahman Faiz Alswaid,2 Wafaa M Eyaid,1– 3 Fuad Al Mutairi
Externí odkaz:
https://doaj.org/article/f116f5e009874c479d34b9dea1462e8b
Autor:
Zhiqiang Yan, Xiaohui Zhu, Yuqian Wang, Yanli Nie, Shuo Guan, Ying Kuo, Di Chang, Rong Li, Jie Qiao, Liying Yan
Publikováno v:
BMC Bioinformatics, Vol 21, Iss 1, Pp 1-5 (2020)
Abstract Background Haplotyping reveals chromosome blocks inherited from parents to in vitro fertilized (IVF) embryos in preimplantation genetic diagnosis (PGD), enabling the observation of the transmission of disease alleles between generations. How
Externí odkaz:
https://doaj.org/article/ed65759a5bfa48fe81d5ce39132346fb
Publikováno v:
Diagnostics, Vol 13, Iss 2, p 183 (2023)
Background: Methodological advancements, such as relative haplotype and relative mutation dosage analyses, have enabled non-invasive prenatal diagnosis of autosomal recessive and X-linked diseases. Duchenne muscular dystrophy (DMD) is an X-linked rec
Externí odkaz:
https://doaj.org/article/d7c3cd669731438bbdb9ecac923dfcd3
Publikováno v:
Biomedicines, Vol 10, Iss 1, p 158 (2022)
The development of new sequencing technologies in the post-genomic era has accelerated the identification of causative mutations of several single gene disorders. Advances in cell and animal models provide insights into the underlining pathogenesis,
Externí odkaz:
https://doaj.org/article/e62b899832c94d3e9e042afa31202ef0
Autor:
Elizabeth A. Normand, Alicia Braxton, Salma Nassef, Patricia A. Ward, Francesco Vetrini, Weimin He, Vipulkumar Patel, Chunjing Qu, Lauren E. Westerfield, Samantha Stover, Avinash V. Dharmadhikari, Donna M. Muzny, Richard A. Gibbs, Hongzheng Dai, Linyan Meng, Xia Wang, Rui Xiao, Pengfei Liu, Weimin Bi, Fan Xia, Magdalena Walkiewicz, Ignatia B. Van den Veyver, Christine M. Eng, Yaping Yang
Publikováno v:
Genome Medicine, Vol 10, Iss 1, Pp 1-14 (2018)
Abstract Background Exome sequencing is now being incorporated into clinical care for pediatric and adult populations, but its integration into prenatal diagnosis has been more limited. One reason for this is the paucity of information about the clin
Externí odkaz:
https://doaj.org/article/5b87d94797ee4e7982b770ab57a6282f
Akademický článek
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Autor:
Chih-Ping Chen
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 46, Iss 2, Pp 111-120 (2007)
Omphalocele can be associated with single gene disorders, neural tube defects, diaphragmatic defects, fetal valproate syndrome, and syndromes of unknown etiology. This article provides a comprehensive review of omphalocele-related disorders: otopalat
Externí odkaz:
https://doaj.org/article/f11e6674c3484066a21e1f0b5cbb1e76
Akademický článek
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Autor:
Karin Writzl
Publikováno v:
Zdravniški Vestnik, Vol 82, Iss 2 (2013)
Backg round: Preimplantation genetic diagnosis (PGD) is used to analyze embryos before their transfer into uterus. It is suitable for a group of patients who are at a substantial risk of conceiving a pregnancy affected by a known genetic defect. PGD
Externí odkaz:
https://doaj.org/article/44cb233e07304dd0ad10a3f96369fbc3
Autor:
Inga Kempa, Linda Gailīte, Violeta Fodina, Ludmila Volozonoka, Dmitry Perminov, Anna Miskova, Baiba Alksere, Liene Korņejeva, Natālija Novikova, Evija Jokste Pīmane, Arita Blumberga
Publikováno v:
Journal of Assisted Reproduction and Genetics
Purpose To compare multiple displacement amplification and OmniPlex whole genome amplification technique performance during array comparative genome hybridization (aCGH), Sanger sequencing, SNaPshot and fragment size analysis downstream applications
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19cb37e5321bdeeedb5ca5d2a79de676
http://europepmc.org/articles/PMC6086788
http://europepmc.org/articles/PMC6086788