Results 61 to 70 of about 4,572,851 (176)

Perils and progress in epilepsy surgery utilization: Twenty‐five years later

Epilepsia, EarlyView.
Abstract More than 25 years have passed since the first randomized controlled trial (RCT) established that surgery is superior to continued anti‐seizure medication (ASM) for drug‐resistant temporal lobe epilepsy, and nearly as long since a joint practice parameter urged that appropriate surgical candidates be referred to a specialized center for ...
Dario J. Englot
wiley   +1 more source

Genetic Normalization of Differentiating Aneuploid Human Embryos [PDF]

, 2011
Early embryogenesis involves a series of dynamic processes, many of which are currently not well described or understood. Aneuploidy and aneuploid mosaicism, a mixture of aneuploid and euploid cells within one embryo, in early embryonic development are ...
Paul Brezina, Raymond Anchan, Kevin Richter, Ric Ross, Andrew Benner, William Kearns, Andrew Barker, Khanh-Ha Nguyen, Garry Cutting   +8 more
core  

The effect of ovarian stimulation protocol on follicular asynchrony during in vitro fertilization – A retrospective cohort study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective To examine the effect of controlled ovarian stimulation (COS) protocol on follicular synchrony in a subsequent in vitro fertilization (IVF) cycle in patients whose previous cycle was canceled due to asynchrony. Methods A single‐center retrospective‐cohort study (January 2018–March 2024), including women undergoing IVF who had: (1) a ...
Alyssa Hochberg, Maria Hincapie, Uri Amikam, Nir Kugelman, William Buckett, Shauna Reinblatt   +5 more
wiley   +1 more source

A preimplantation genetic testing of monogenic diseases. Description of clinical case

, 2018
Preimplantation genetic testing performed to analyze the chromosomal structural rearrangements, monogenic/single gene defects and aneuploidies. The aim of this study is to show the discussion of a clinical case of preimplantation genetic testing in the ...
Tatyana E. Ivaschenko, Marianna A. Maretina, Igor Yu. Kogan, Inna O. Krikheli, Alexander M. Gzgzyan, Pavel P. Iakovlev, Irina D. Mekina, Elena V. Misharina   +7 more
core   +1 more source

Breakpoint Mapping and Disrupted Gene Identification in Azoospermic Patients With Chromosomal Balanced Translocation by Nanopore Sequencing

Journal of Clinical Laboratory Analysis, EarlyView.
This study employed nanopore long‐read sequencing to achieve single‐base‐pair resolution breakpoint mapping in azoospermic patients with chromosomal balanced translocations, revealing cryptic breakpoints and an inverted insertion undetectable by conventional karyotyping.
Jian Zhang, Xiao‐lu Chen, Jia‐yan Chen, Yun‐sheng Ge   +3 more
wiley   +1 more source

Summary of primers using in preimplantation genetic testing for beta thalassemia/hemoglobin E disease.

, 2019
Summary of primers using in preimplantation genetic testing for beta thalassemia/hemoglobin E disease.
Suradej Hongeng (285857), Wicharn Choktanasiri (7907672), Bhakbhoom Panthan (4574878), Angkana Charoenyingwattana (7907666), Matchuporn Sukprasert (7907663), Wasun Chantratita (721243), Objoon Trachoo (4574890), Pawares Chitayanan (7907669), Chonthicha Satirapod (7907660)   +8 more
core   +1 more source

Data of Modeling-based prediction tools for preimplantation genetic testing of mitochondrial DNA diseases

, 2022
Data of Modeling-based prediction tools for preimplantation genetic testing of mitochondrial DNA diseasesTHIS DATASET IS ARCHIVED AT DANS/EASY, BUT NOT ACCESSIBLE HERE.
Zhang, N (via Mendeley Data), Zhang, Ning   +1 more
core   +1 more source

Successful birth after preimplantation genetic testing for rare mitochondrial DNA mutation m.10197G>A

Human Genome Variation
Here we report the first successful birth after preimplantation genetic testing for m.10197G>A mutation, a rare variant responsible for Leigh encephalopathy. Preimplantation genetic testing diagnosed the embryo with a mutant load of
Yuki Mizuguchi, Kou Sueoka, Suguru Sato, Mamoru Tanaka   +3 more
doaj   +1 more source

An attractive alternative to prenatal diagnosis: a case report of preimplantation genetic testing in familial cardiomyopathy

AJOG Global Reports
Familial hypertrophic cardiomyopathy is an autosomal dominant familial inherited heart disease caused by mutations in the sarcomere protein that affects nearly 1 in 500 people.
Shubhra Pandey, MBBS, DGO, FRM, Parth Khandhedia, MBBS, DGO   +1 more
doaj   +1 more source

Preimplantation Genetic Testing of Multiple Endocrine Neoplasia Type 2A

Frontiers in Endocrinology, 2020
Background: When discussing matters of reproduction, the 2015 revised guidelines for the management of medullary thyroid carcinoma recommend that patients diagnosed with multiple endocrine neoplasia type 2A (MEN 2A) are informed about the option of ...
Anders Würgler Hansen, Anders Würgler Hansen, Laura Kirstine Sønderberg Roos, Kristine Løssl, Christian Godballe, Christian Godballe, Jes Sloth Mathiesen, Jes Sloth Mathiesen   +7 more
doaj   +1 more source