Zobrazeno 1 - 10
of 925
pro vyhledávání: '"1p36"'
Autor:
Chih-Ping Chen, Shun-Long Weng, Fang-Tzu Wu, Peih-Shan Wu, Yen-Ting Pan, Wen-Lin Chen, Chien-Wen Yang, Wayseen Wang
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 6, Pp 909-912 (2024)
Objective: We present first-trimester application of expanded non-invasive prenatal testing (NIPT) in the genetic investigation of fetal 1p36 deletion syndrome associated with a familial unbalanced reciprocal translocation of 46,XX,der(1)t(1;2) (p36.
Externí odkaz:
https://doaj.org/article/08715fcd276149e3925dea0af7175041
Autor:
Maria Arteaga Pichardo, Felipe Bernate, Juan Trujillo Angel, Maria Santana Alba, Maria Lubo, Natalia Avellaneda Perdigon, Lev Bladimir Ramirez, Daniel Jimenez, Sofia Atuesta Escobar, Isabel Fernandez Gonzalez, Luis Celis Regalado
Publikováno v:
Iranian Journal of Neonatology, Vol 15, Iss 3, Pp 60-64 (2024)
Background: Radio-Tartaglia syndrome or RATARS is an unfamiliar disease caused by a heterozygous mutation of the SPEN gen in the 1p36 chromosome. Clinically, it is represented by global developmental delay and intellectual disability; however, it can
Externí odkaz:
https://doaj.org/article/2e3e8e22686c4f33a4f71c21f58f05f0
Autor:
Huanhuan Yang, Jun Huang, Hao Zheng, Yunfan Zhang, Yuanzhen Zhang, Wei Liu, Jinrong Wu, Xiaobin Chen, Jinfeng Lin, Yanna Ni, Xiaojing Nie
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-6 (2023)
Abstract Background 1P36 deletion syndrome is recognized as the most common terminal microdeletion syndrome in humans, characterized by early developmental delay and consequent intellectual disability, seizure disorder, and distinctive facial feature
Externí odkaz:
https://doaj.org/article/a1428a035fcb4ac7bffc25753ea03e30
Autor:
Midhat Zihra, Ibad Rehmaan, Saman Amjed, Khawar Abbass, Ata ullah Khan, Anwaar ul Haq, Hashim Talib Hashim, Khadija Iqbal, Ahmed Dheyaa Al‐Obaidi, Ahmed Qasim Mohammed Alhatemi, Ali Talib Hashim
Publikováno v:
Clinical Case Reports, Vol 12, Iss 2, Pp n/a-n/a (2024)
Key Clinical Message This case underscores the atypical presentation of late‐onset congenital diaphragmatic hernia in a 9‐old with 1p36 deletion syndrome. Recognition of respiratory distress and abdominal symptoms is crucial for intervention. Abs
Externí odkaz:
https://doaj.org/article/3aa1017d6e6a4b1a9d0d937f01006baa
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Русский журнал детской неврологии, Vol 17, Iss 2, Pp 37-46 (2022)
1p36 deletion syndrome (OMIM: 607872) is an autosomal dominant disease caused by a terminal deletion of the short arm of chromosome 1, characterized by specific craniofacial dysmorphism, delayed speech development and epilepsy. The severity of epilep
Externí odkaz:
https://doaj.org/article/66eca84a2a7048f791a829234f7559c8
Autor:
Zhi‐Xia Yue, Tian‐Yu Xing, Wen Zhao, Qian Zhao, Xi‐Si Wang, Yan Su, Chao Gao, Shu‐Guang Liu, Xiao‐Li Ma
Publikováno v:
Cancer Medicine, Vol 11, Iss 8, Pp 1837-1849 (2022)
Abstract Background This study aimed to better understand the prognostic effect of multiple genetic markers and identify more subpopulations at ultra high risk of poor outcome in bone marrow (BM) metastatic neuroblastoma (NB). Methods We screened the
Externí odkaz:
https://doaj.org/article/7ee3c22997f04a409a92b38733da7390
Publikováno v:
Frontiers in Oncology, Vol 13 (2023)
ObjectiveTo explore the value of 18F-2-fluoro-2-deoxyglucose (FDG) positron emission tomography (PET)/computed tomography(CT) in MYCN gene and chromosome 1p36 and 11 statuses in newly diagnosed pediatric NB(neuroblastoma) and GNB(ganglioneuroblastoma
Externí odkaz:
https://doaj.org/article/3f408991fc36476c8d7e5b5a3aa0022f
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.