Zobrazeno 1 - 10
of 5 185
pro vyhledávání: '"CHROMOSOMAL-ABNORMALITIES"'
Autor:
Anjali Shastry
Publikováno v:
National Board of Examinations Journal of Medical Sciences, Vol Volume 2, Iss Issue 11, Pp 1199-1206 (2024)
Male hypogonadism refers to decrease in testosterone levels due to diminished activity of testes. Hypogonadism will result in infertility, absent or poor secondary sexual characteristics and abnormal genitalia. One of the important causes of male hyp
Externí odkaz:
https://doaj.org/article/1bdd7eb1d9e642b1a448098223049c78
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
Publikováno v:
Problemy Pielęgniarstwa, Vol 32, Iss 3, Pp 156-161 (2024)
Edwards syndrome is a chromosomal disorder that involves the presence of 3 copies of chromosome 18. The extra genetic material results in several characteristic phenotypic features, such as polydactyly, agenesis of the corpus callosum, and heart defe
Externí odkaz:
https://doaj.org/article/bb63021e87af4b358601d23a796ea3d2
Autor:
Qing Lu, Laipeng Luo, Baitao Zeng, Haiyan Luo, Xianjin Wang, Lijuan Qiu, Yan Yang, Chuanxin Feng, Jihui Zhou, Yanling Hu, Tingting Huang, Pengpeng Ma, Ting Huang, Kang Xie, Huizhen Yuan, Shuhui Huang, Bicheng Yang, Yongyi Zou, Yanqiu Liu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background and objectives Congenital heart defect (CHD) is one of the most common birth defects. The aim of this cohort study was to evaluate the prevalence of chromosomal abnormalities and the clinical utility of chromosomal microarray anal
Externí odkaz:
https://doaj.org/article/be0dc194fa524d1fae92b68b64eff4c6
Autor:
Mahla Shaban, Sanaz Mollazadeh, Saeid Eslami, Fatemeh Tara, Samaneh Sharif, Fatemeh Erfanian Arghavanian
Publikováno v:
Reproductive Health, Vol 21, Iss 1, Pp 1-5 (2024)
Abstract Background For women in the first trimester, amniocentesis or chorionic villus sampling is recommended for screening. Machine learning has shown increased accuracy over time and finds numerous applications in enhancing decision-making, patie
Externí odkaz:
https://doaj.org/article/aec7f5882b7749a8bfbd82bb41401d74
Autor:
Joana Goncalves Pontes Jacinto, Anna Letko, Irene Monika Häfliger, Cord Drögemüller, Jørgen Steen Agerholm
Publikováno v:
Acta Veterinaria Scandinavica, Vol 66, Iss 1, Pp 1-17 (2024)
Abstract Background Chiari malformation type II (CMII) was originally reported in humans as a rare disorder characterized by the downward herniation of the hindbrain and towering cerebellum. The congenital brain malformation is usually accompanied by
Externí odkaz:
https://doaj.org/article/e628d5d57f734e8e8c69175fbec5f45f
Publikováno v:
Heliyon, Vol 10, Iss 23, Pp e40686- (2024)
Background: The change of morphokinetic pattern in aneuploid embryos will facilitate the non-invasive selection of euploid embryos. In this study, we investigated the impact of different chromosomal abnormalities on the morphokinetic patterns of embr
Externí odkaz:
https://doaj.org/article/ca609a8f40ac4cf181ce7a43cf75f47a
Publikováno v:
Journal of Obstetrics and Gynaecology, Vol 44, Iss 1 (2024)
Background Primary amenorrhoea (PA) refers to an ailment when adolescent girls do not attain menarche naturally. It is one of the most common gynaecological disorders specified. Chromosomal abnormalities play a pivotal role in PA. Cytogenetic analysi
Externí odkaz:
https://doaj.org/article/a55da09805db453cb09b435a99ac553b
Autor:
Lin Liu, Jinghan Wang, Huan Xu, Shuqi Zhao, Lu Wang, Jiansong Huang, Huanping Wang, Hongyan Tong, Jie Jin
Publikováno v:
Hematology, Vol 29, Iss 1 (2024)
Objectives In patients with acute promyelocytic leukemia (APL), additional chromosomal abnormalities (ACAs) are prognostic indicators. However, the clinical features of ACAs were not systematically reported in Chinese patients. Therefore, we enrolled
Externí odkaz:
https://doaj.org/article/7241f6f5a9d74c6194fce1f0acd6f5c1
Autor:
Hamood AlSudais, Abdulrahman Alshalani, Sarah Alajaji, Salma Alsaadoun, Leyan Alsaiari, Yasir Almuhanna, Mohammed Asad, Hazem K. Ghneim
Publikováno v:
Heliyon, Vol 10, Iss 22, Pp e40379- (2024)
Since its introduction a decade ago, non-invasive prenatal testing (NIPT) has been recognized as a highly accurate and safe screening option for expecting mothers, with its efficacy hinging on awareness, perceptions, and understanding of the test. We
Externí odkaz:
https://doaj.org/article/49e225994227464a89f75276413f9655