Zobrazeno 1 - 10
of 897
pro vyhledávání: '"6P"'
Autor:
Petros Eliadis, Annie Mais, Alexandros Papazisis, Eleni K. Loxa, Alexios Dimitriadis, Ioannis Sarrigeorgiou, Marija Backovic, Maria Agallou, Marios Zouridakis, Evdokia Karagouni, Konstantinos Lazaridis, Avgi Mamalaki, Peggy Lymberi
Publikováno v:
Vaccines, Vol 12, Iss 8, p 914 (2024)
Since the initiation of the COVID-19 pandemic, there has been a need for the development of diagnostic methods to determine the factors implicated in mounting an immune response against the virus. The most promising indicator has been suggested to be
Externí odkaz:
https://doaj.org/article/969f3a950b004506a05810eb2067807a
Autor:
S. Amimoto, M. Ishii, K. Tanaka, S. Araki, M. Kuwamura, S. Suga, E. Kondo, E. Shibata, K. Kusuhara, K. Yoshino
Publikováno v:
Journal of Medical Case Reports, Vol 17, Iss 1, Pp 1-6 (2023)
Abstract Background Chromosome 5p partial monosomy (5p-syndrome) and chromosome 6p partial trisomy are chromosomal abnormalities that result in a variety of symptoms, but liver dysfunction is not normally one of them. Alagille syndrome (OMIM #118450)
Externí odkaz:
https://doaj.org/article/dd2b0e5d90f4481082a7905a12f2780e
Autor:
Eleana Rraku, Wilhelmina S. Kerstjens-Frederikse, Morris A. Swertz, Trijnie Dijkhuizen, Conny M. A. van Ravenswaaij-Arts, Aafke Engwerda
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-19 (2023)
Abstract Background Terminal 6p deletions are rare, and information on their clinical consequences is scarce, which impedes optimal management and follow-up by clinicians. The parent-driven Chromosome 6 Project collaborates with families of affected
Externí odkaz:
https://doaj.org/article/9c3d5644b96e48dc9ed60be05d88350d
Akademický článek
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Autor:
Jianlong Zhuang, Na Zhang, Wanyu Fu, Jianfeng Yao, Yanqing Li, Shuhong Zeng, Yuanbai Wang, Yingjun Xie, Yuying Jiang
Publikováno v:
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-10 (2021)
Abstract Aims There is little knowledge about partial trisomy 4q and the genotype–phenotype correlation. In this study, we presented the detail of two Chinese families with partial distal 4q duplication in an attempt to clarify the correlation betw
Externí odkaz:
https://doaj.org/article/fcdd2cc4f8624f8c985a2c243356cd69
Akademický článek
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Publikováno v:
Frontiers in Medicine, Vol 9 (2022)
Objective5p deletion syndrome, that characterized by cat-like cry and peculiar timbre of voice, is believed to be one of the most common pathogenic copy number variations (CNVs). Variable critical regions on 5p involving a variety of genes contribute
Externí odkaz:
https://doaj.org/article/1b3e91de9d344b42ba09da52aaf05ed2
Autor:
Wenjing Yang, Haiming Han, Baojin Guo, Kai Qi, Jinpeng Zhang, Shenghui Zhou, Xinming Yang, Xiuquan Li, Yuqing Lu, Weihua Liu, Xu Liu, Lihui Li
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 8, p 7056 (2023)
Wild relatives of wheat are essential gene pools for broadening the genetic basis of wheat. Chromosome rearrangements and genomic variation in alien chromosomes are widespread. Knowledge of the genetic variation between alien homologous chromosomes i
Externí odkaz:
https://doaj.org/article/3dc95eed91fc4943b6a2f5e3ad649061
Autor:
Yu-Min Syu, Juine-Yih Ma, Tzu-Hsuen Ou, Chung-Lin Lee, Hsiang-Yu Lin, Shuan-Pei Lin, Chia-Jung Lee, Chih-Ping Chen
Publikováno v:
Diagnostics, Vol 12, Iss 10, p 2306 (2022)
Small supernumerary marker chromosomes (sSMCs) derived from the chromosome 6 short arm are rare and their clinical significance remains unknown. No case with sSMC(6) without centromeric DNA has been reported. Partial trisomy and tetrasomy of distal 6
Externí odkaz:
https://doaj.org/article/840a84a256d0415a88760b08605b2a6d
Autor:
Gustav Stålhammar, MD, PhD, Aaron Yeung, MD, PhD, Pia Mendoza, MD, Sander R. Dubovy, MD, J. William Harbour, MD, Hans E. Grossniklaus, MD, MBA
Publikováno v:
Ophthalmology Science, Vol 2, Iss 1, Pp 100089- (2022)
Purpose: Gain of chromosome 6p has been associated with poor ocular survival in retinoblastoma and histopathologic grading of anaplasia with increased risk of metastatic spread and death. This study examined the correlation between these factors and
Externí odkaz:
https://doaj.org/article/622347eab5284a32a543ca011f1d366a