Results 31 to 40 of about 5,754 (180)

Clinical utility of combined preimplantation genetic testing methods in couples at risk of passing on beta thalassemia/hemoglobin E disease: A retrospective review from a single center.

PLoS ONE, 2019
Thalassemia and hemoglobinopathy is a group of hereditary blood disorder with diverse clinical manifestation inherited by autosomal recessive manner. The Beta thalassemia/Hemoglobin E disease (HbE/βthal) causes a variable degree of hemolysis and the most
Chonthicha Satirapod, Matchuporn Sukprasert, Bhakbhoom Panthan, Angkana Charoenyingwattana, Pawares Chitayanan, Wasun Chantratita, Wicharn Choktanasiri, Objoon Trachoo, Suradej Hongeng   +8 more
doaj   +1 more source

#270 : Single-Center Retrospective Cohort Analysis: Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) for Monogenic Nephropathy

Fertility & Reproduction, 2023
Background and Aims: Hereditary nephropathy, including monogenic nephropathy, is an important cause of renal insufficiency and end-stage renal disease. Therefore, genetic blockade is necessary for couples with monogenic nephropathy.
Xinyu Liu, Qian Zhang, Qing Zhao, Kexin Cao, Wei Zhou, Tianxiang Ni, Shuzhen Sun, Junhao Yan   +7 more
doaj   +1 more source

Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis

BMC Medical Genomics, 2019
Background Preimplantation genetic testing for monogenic defects (PGT-M) has been available in clinical practice. This study aimed to validate the applicability of targeted capture sequencing in developing personalized PGT-M assay.
Haining Luo, Chao Chen, Yun Yang, Yinfeng Zhang, Yuan Yuan, Wanyang Wang, Renhua Wu, Zhiyu Peng, Ying Han, Lu Jiang, Ruqiang Yao, Xiaoying An, Weiwei Zhang, Yanqun Le, Jiale Xiang, Na Yi, Hui Huang, Wei Li, Yunshan Zhang, Jun Sun   +19 more
doaj   +1 more source

Simultaneous trophectoderm biopsies enable preimplantation genetic testing for monogenic disorders in de novo case of incontinentia pigmenti: case report

F&S Reports
Objective: To describe the use of two simultaneous trophectoderm biopsies as a method to establish linkage analysis for preimplantation genetic testing for monogenic disorders (PGT-M) test development in a case of de novo incontinentia pigmenti (IP ...
Laura C. Gemmell, M.D., Stephanie Galloway, M.S., C.G.C., Katie Rembisz, M.S., C.G.C., Alyssa Snider, C.G.C., Ph.D., Paulina Nassab, M.S., C.G.C., Ana Cristina Cervero Sanz, Ph.D., Mikaela Wolfkamp, M.Sc., Georgios Koustas, Ph.D., Sinem Karipcin, M.D.   +8 more
doaj   +1 more source

O-063 PGT-M, for multi-system genetic diseases

Human Reproduction, 2021
Abstract Abstract text Reciprocal translocations (RecT) and Robertsonian translocations (RobT) are among the most common chromosomal abnormalities that cause infertility and birth defects. In 2017, the Reproductive Medicine Center of the first affiliated Hospital of Zhengzhou University reported a method named "Mapping ...
openaire   +1 more source

P–562 PGT-M with de novo mutations : how to deal with it?

Human Reproduction, 2021
Abstract Study question How to technically deal with the PGT-M set-up in case of de novo mutations in female or male affected patients with dominant disease due to de novo mutations. Summary answer PGT-M was performed for three ...
E Crugnola, A Gobbetti, N Fiandanese, G Filippini   +3 more
openaire   +1 more source

Preimplantation Testing for Polygenic Disease (PGT-P): Brave New World or Mad Pursuit?

DNA, 2023
In preimplantation testing for monogenic disease (PGT-M), we are used to specific and directed diagnoses. Preimplantation testing for polygenic disease (PGT-P), however, represents a further level of complexity in that multiple genes are tested for with ...
Darren K. Griffin, Anthony T. Gordon
doaj   +1 more source

Preimplantation genetic testing (PGT) for hemophilia A: Experience from one center

Taiwanese Journal of Obstetrics & Gynecology, 2022
Objective: Hemophilia A (HA) is an X-linked recessive bleeding disease caused by a deficiency or dysfunction of blood coagulation factor VIII (FVIII).
Thi Minh Phuong Bui, Van Khanh Tran, Thi Thanh Hai Nguyen, Thi Phuong Le, Thi Mai Nguyen, Hai Anh Tran, Vu Dung Luu, Manh Ha Nguyen, The-Hung Bui, Thanh Van Ta, Thinh Huy Tran   +10 more
doaj   +1 more source

Climate Change Mitigation in the Dairy Sector: Uncovering Heterogeneity Through Eco‐Efficiency Clubs

Agribusiness, EarlyView.
ABSTRACT Combining climate change goals with economic targets is crucial for the dairy sector, which is a significant contributor to agricultural greenhouse gas (GHG) emissions worldwide. In this paper, we assess economic and climate change implications of dairy production with panel data of Irish dairy farms from 2013 to 2021.
Doris Läpple, Christian Stetter, Cathal Buckley   +2 more
wiley   +1 more source

Perspectives on Preimplantation Genetic Testing for Monogenic Disorders Among Japanese Patients With Hereditary Breast Cancer Undergoing Fertility Preservation: Insights From the First Japanese Survey

Reproductive Medicine and Biology
Purpose Preimplantation genetic testing for monogenic disorders (PGT‐M) offers BRCA variant carriers the option of preventing hereditary cancer transmission.
Haruhisa Konishi, Yoshiharu Nakaoka, Anmae Michiko, Sho Fujiwara, Rie Kitayama, Daisuke Kadogami, Naoharu Morimoto, Kanako Katsu, Satoko Fujioka, Tomoko Inoue, Aisaku Fukuda, Hiroki Kurahashi, Yoshiharu Morimoto   +12 more
doaj   +1 more source