Zobrazeno 1 - 10
of 1 995
pro vyhledávání: '"De-novo mutation"'
Autor:
Xuejiao Ba, Xiyao Yang, Yizhi Zhang, Fang Guo, Lihong Zhu, Rui Tong, Yanbin Yang, Yuan Qian, Hongqing Zhang
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundKabuki syndrome is a genetic syndrome that affects multiple organs and systems. Gene mutations are the main cause of KS. Mutations in the KMT2D and KDM6A genes have been reported as two relatively clear pathogenic pathways. This article rep
Externí odkaz:
https://doaj.org/article/e41868044f784da591857de10bf146e5
Autor:
Christopher J. Yoon, Chang Hyun Nam, Taewoo Kim, Jeong Seok Lee, Ryul Kim, Kijong Yi, June-Young Koh, Jiye Kim, Hyein Won, Ji Won Oh, Obi L. Griffith, Malachi Griffith, Joohon Sung, Tae Yeul Kim, Duck Cho, Ji Seon Choi, Young Seok Ju
Publikováno v:
HGG Advances, Vol 5, Iss 3, Pp 100301- (2024)
Summary: While most dizygotic twins have a dichorionic placenta, rare cases of dizygotic twins with a monochorionic placenta have been reported. The monochorionic placenta in dizygotic twins allows in utero exchange of embryonic cells, resulting in c
Externí odkaz:
https://doaj.org/article/f1dbbd925688474a9c7d70779040690e
Publikováno v:
Hereditas, Vol 161, Iss 1, Pp 1-8 (2024)
Abstract Background Oculocutaneous albinism (OCA) is a group of rare genetic disorders characterized by a reduced or complete lack of melanin in the skin, hair, and eyes. Patients present with colorless retina, pale pink iris, and pupil, and fear of
Externí odkaz:
https://doaj.org/article/60803439f179428a9d9b0b4b7fb3c576
Autor:
Juan Pablo Arango-Ibañez, Luis Gabriel Parra-Lara, Ángela R. Zambrano, Lisa Ximena Rodríguez-Rojas
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 22, Iss 1, Pp 1-5 (2024)
Abstract Background Li-Fraumeni syndrome (LFS) is an autosomal dominant hereditary cancer syndrome caused by pathogenic variants in the gene TP53. This gene codes for the P53 protein, a crucial player in genomic stability, which functions as a tumor
Externí odkaz:
https://doaj.org/article/1c1278b982704453a5ccf68ffae3a829
Autor:
Mianne Lee, Adrian C. Y. Lui, Joshua C. K. Chan, Phoenix H. L. Doong, Anna K. Y. Kwong, Christopher C. Y. Mak, Raymond H. W. Li, Anita S. Y. Kan, Brian H. Y. Chung
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-14 (2023)
Abstract Mosaicism refers to the presence of two or more populations of genetically distinct cells within an individual, all of which originate from a single zygote. Previous literature estimated the percentage of parental mosaicism ranged from 0.33
Externí odkaz:
https://doaj.org/article/ac8c484edeef4b69839a418b96ebad40
Autor:
Cuiting Peng, Han Chen, Jun Ren, Fan Zhou, Yutong Li, Yuezhi Keqie, Taoli Ding, Jiangxing Ruan, He Wang, Xinlian Chen, Shanling Liu
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-9 (2023)
Abstract The autosomal dominant form of polycystic kidney disease (ADPKD) is the most common hereditary disease that causes late-onset renal cyst development and end-stage renal disease. Preimplantation genetic testing for monogenic disease (PGT-M) h
Externí odkaz:
https://doaj.org/article/1815035dc77944bdb97c87e064efe7a1
Publikováno v:
Clinical Case Reports, Vol 12, Iss 3, Pp n/a-n/a (2024)
Key Clinical Message CHARGE syndrome is a rare genetic disorder characterized by several distinct features. The presence of fetal ear abnormalities could be the early indicator of CHARGE syndrome. Subsequent prenatal diagnosis is essential to confirm
Externí odkaz:
https://doaj.org/article/b24a16ae24b245548839d4404c95a863
Autor:
Yasser Al-Sarraj, Rowaida Z. Taha, Eman Al-Dous, Dina Ahram, Somayyeh Abbasi, Eman Abuazab, Hibah Shaath, Wesal Habbab, Khaoula Errafii, Yosra Bejaoui, Maryam AlMotawa, Namat Khattab, Yasmin Abu Aqel, Karim E. Shalaby, Amina Al-Ansari, Marios Kambouris, Adel Abouzohri, Iman Ghazal, Mohammed Tolfat, Fouad Alshaban, Hatem El-Shanti, Omar M. E. Albagha
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Introduction: Autism spectrum disorder (ASD) is characterized by aberrations in social interaction and communication associated with repetitive behaviors and interests, with strong clinical heterogeneity. Genetic factors play an important role in ASD
Externí odkaz:
https://doaj.org/article/1cb66fb1f0d64cfb9ab254e423381745
Publikováno v:
The Application of Clinical Genetics, Vol Volume 16, Pp 83-87 (2023)
Amina Scherz,1 Susanna Stoll,2 Benno Rothlisberger,3 Manuela Rabaglio1 1Department of Medical Oncology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland; 2Department of Medical Oncology, University Hospital and Stadtspital
Externí odkaz:
https://doaj.org/article/28c8902dec884566ac44464d998c3b04
Autor:
Marije J. Steensma, Y. L. Lee, A. C. Bouwman, C. Pita Barros, M. F.L. Derks, M. C.A.M. Bink, B. Harlizius, A. E. Huisman, R. P.M.A. Crooijmans, M. A.M. Groenen, H. A. Mulder, C. M. Rochus
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-11 (2023)
Abstract Background De novo mutations arising in the germline are a source of genetic variation and their discovery broadens our understanding of genetic disorders and evolutionary patterns. Although the number of de novo single nucleotide variants (
Externí odkaz:
https://doaj.org/article/018e5f9d42b140b3b47c62f2a573d7f3