Zobrazeno 1 - 10
of 293
pro vyhledávání: '"PGT-M"'
Publikováno v:
BMC Pregnancy and Childbirth, Vol 24, Iss 1, Pp 1-10 (2024)
Abstract Background Ornithine carbamoyltransferase deficiency (OTCD) is a kind of X-linked metabolic disease caused by a deficiency in ornithine transcarbamylase leading to urea cycle disorders. The main reason is that the OTC gene variants lead to t
Externí odkaz:
https://doaj.org/article/5e7e58fc3108486392abcf0622f5de3e
Autor:
Pannarai Somboonchai, Pimlak Charoenkwan, Sirivipa Piyamongkol, Worashorn Lattiwongsakorn, Tawiwan Pantasri, Wirawit Piyamongkol
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-10 (2024)
Abstract Hb H disease is the most severe form of α-thalassemia compatible with post-natal life. Compound heterozygous α0-thalassemia− SEA deletion/α+-thalassemia− 3.7kb deletion is the commonest cause of Hb H disease in Thailand. Preimplantati
Externí odkaz:
https://doaj.org/article/7c62aea24d224adba5f2a8c596231028
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-8 (2024)
Abstract Background GATA1-related cytopenia (GRC) is characterized by thrombocytopaenia and/or anaemia ranging from mild to severe. Haematopoietic stem cell transplantation (HSCT) is a healing therapeutic choice for GRC patients. We identified a nove
Externí odkaz:
https://doaj.org/article/72550d1c43054ca3adebc52c23fc14b8
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
With the development of high-throughput sequencing, the genetic etiology of many diseases has been revealed. However, this has also led to the categorization of many variants as variants of uncertain significance (VUSs), presenting a major challenge
Externí odkaz:
https://doaj.org/article/dcf7423a71cf455e97ebd3ffa946a770
Preimplantation genetic testing for Cockayne syndrome with a novel ERCC6 variant in a Chinese family
Autor:
Xuemei He, Yiyuan Zhang, Xianjing Huang, Pingping Qiu, Hong Ji, Lu Ding, Yingying Shi, Yanru Huang, Ping Li, Libin Mei
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
BackgroundCockayne syndrome (CS) is a rare, multisystem, autosomal recessive disorder characterized by cachectic dwarfism, nervous system abnormalities, and premature aging. Mutations in the ERCC6 and ERCC8 genes are the predominant causes of Cockayn
Externí odkaz:
https://doaj.org/article/4d2cb92a263946cb860876c7d86778ca
Autor:
Qianhui Hu, Qing Zhang, Mengxi Guo, Haixia Ding, Ji Xi, Meiling Zhang, Min Wang, Lin Zhang, Shuyuan Li, Dandan Wu, Wen Li
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
BackgroundHereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant inheritable disease caused by Fumarate hydratase (FH) gene germline mutation. It is speculated that for HRLCC infertility women with multiple uterine leiom
Externí odkaz:
https://doaj.org/article/287fdead86c04e3da4c07eae07f7e2b4
Autor:
Minh Tam Nguyen, Thanh Tung Nguyen, Duy Bac Nguyen, Thi Mai Nguyen, Kim Ngan Nguyen, Van Nhat Minh Ngo, Van Dieu Nguyen, Ngoc Anh Tran, Mulias Lian, Arnold S. C. Tan, Samuel S. Chong, Tien Truong Dang
Publikováno v:
Thrombosis Journal, Vol 21, Iss 1, Pp 1-7 (2023)
Abstract Background Hemophilia A (HEMA) is an X-linked bleeding disorder caused by reduced/absent coagulation factor VIII expression, as a result of pathogenic variants in the F8 gene. Preimplantation prevention of HEMA should ideally include direct
Externí odkaz:
https://doaj.org/article/16b781413ad24e16b88364856c3dd713
Autor:
Firuza Parikh, Arundhati Athalye, Prochi Madon, Meenal Khandeparkar, Dattatray Naik, Rupesh Sanap, Anuradha Udumudi
Publikováno v:
Frontiers in Reproductive Health, Vol 5 (2023)
Pre-implantation genetic testing (PGT) is a vital tool in preventing chromosomal aneuploidies and other genetic disorders including those that are monogenic in origin. It is performed on embryos created by intracytoplasmic sperm injection (ICSI). Gen
Externí odkaz:
https://doaj.org/article/d9b16c7a0a8d4b869f80a915dbdd7fae
Autor:
Joshua C. Combs, M.D., Maura Dougherty, M.S., Meghan U. Yamasaki, D.O., Alan H. DeCherney, M.D., Kate M. Devine, M.D., Micah J. Hill, D.O., Erin Rothwell, Ph.D., Jeanne E. O'Brien, M.D., Richard E. Nelson, Ph.D.
Publikováno v:
F&S Reports, Vol 4, Iss 3, Pp 300-307 (2023)
Objective: To evaluate the cost-effectiveness of in vitro fertilization with preimplantation genetic testing for monogenic disease (IVF + PGT-M) in the conception of a nonsickle cell disease (non-SCD) individual compared with standard of care treatme
Externí odkaz:
https://doaj.org/article/12cfa13489cc4bca9aa56d0b4a1bccce
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