Results 61 to 70 of about 16,842 (266)

Preimplantation Genetic Diagnosis in Hereditary Hearing Impairment

Diagnostics, 2021
Sensorineural hearing impairment is a common sensory deficit in children and more than 50% of these cases are caused by genetic etiologies, that is, hereditary hearing impairment (HHI).
Hsin-Lin Chen, Pei-Hsuan Lin, Yu-Ting Chiang, Wen-Jie Huang, Chi-Fang Lin, Gwo-Chin Ma, Shun-Ping Chang, Jun-Yang Fan, Shin-Yu Lin, Chen-Chi Wu, Ming Chen   +10 more
doaj   +1 more source

Darier disease—A review highlighting new insights from the Darier Disease International Task Force

Journal of the European Academy of Dermatology and Venereology, EarlyView.
This review provides a global, clinically focused overview of DD, detailing cutaneous and extracutaneous manifestations, disease classification and severity scoring. It emphasizes early recognition, multidisciplinary management and practical guidance for dermatologists to apply evidence‐based care in diverse skin phototypes. Abstract Darier disease (DD)
Sofia Labbouz, Alain Hovnanian, Grace Xiong, Dedee Frances Murrell, Simon M. Mueller, Khaled Ezzedine, Nessa Aghazadeh Mohandesi, Ahmed Salem Aldhaheri, Nissim Asayag, Eulalia Baselga, Chen Nadler, Keith Choate, Chia‐Yu Chu, John Robert Edminister, Emmanuella Guenova, Melis Gönülal, Antoni Gostynski, Ankan Gupta, Lalit Kumar Gupta, Juliette Mazereeuw‐Hautier, Wolfram Hoetzenecker, Peter Itin, Marek Jankowski, Akiharu Kubo, Haur Yueh Lee, Julia Scott Lehman, Anfisa Lepekhova, Márta Medvecz, Jemima E. Mellerio, Verena Moosbrugger‐Martinz, Amy S. Paller, Dóra Plázár, Amadeu José Rodrigues Queiróz, Josep Riera‐Monroig, Ralph Rosa, Matthias Schmuth, Maella Severino Freire, Itzhak Shabat, Jonathan Shapiro, Cory L. Simpson, Diego Soto‐García, Alexander J. Stratigos, Gianluca Abel Tadini, Takuya Takeichi, Kaushal K. Verma, Jakob D. Wikström, Alexander Zink, Michael Ziv, Alexander Navarini, Roni Pircha Dodiuk‐Gad   +49 more
wiley   +1 more source

INFORMATION TECHNOLOGIES IN THE ASSESSMENT OF THE PREIMPLANTATION GENETIC DIAGNOSIS EFFICIENCY IN THE FIELD OF ASSISTED REPRODUCTIVE TECHNOLOGIES

Medična Informatika ta Inženerìâ, 2012
Application of the information technologies is becoming increasingly important in the practice of molecular and cytogenetic analysis of chromosomal abnormalities in particular on the preimplantation level.
S. V. Denysenko
doaj   +1 more source

Pre-implantation Genetic Diagnosis of Thalassemias

Thai Journal of Obstetrics and Gynaecology, 2018
Beta-Thalassemia major, beta-thalassemia-Hb E disease and Hb Bart’s disease are severe hereditary anemia which are prevalent in Thailand and neighborhood countries.
Wirawit Piyamongkol
doaj   +1 more source

Choosing embryos: Ethical complexity and relational autonomy in staff accounts of PGD

, 2007
Copyright @ 2008 the authors. This article is available in accordance with the Creative Commons Deed, Attribution 2.5, see http://creativecommons.org/licenses/by-nc-nd/2.5/deed.en_CA.The technique of preimplantation genetic diagnosis (PGD) is commonly ...
Williams, C, Clare Williams, Sandall, Jane; id_orcid, Jane Sandall (3213219), Kathryn Ehrich (16049615), Kathryn Ehrich, Bobbie Farsides, Bobbie Farsides (4461928), Sandall, J, Rosamund Scott, Jane S, Scott, R, Rosamund Scott (16049618), Jane Sandall, Farsides, Bobbie, Ehrich, K, Ehrich, Kathryn, Williams, Clare, Clare Williams (14068554), Farsides, B, Scott, Rosamund   +20 more
core   +1 more source

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source

Elevated sperm DNA fragmentation is correlated with an increased chromosomal aneuploidy rate of miscarried conceptus in women of advanced age undergoing fresh embryo transfer cycle

Frontiers in Endocrinology
BackgroundMale sperm DNA fragmentation (SDF) may be associated with assisted reproductive technology (ART) outcomes, but the impact of SDF on the occurrence of aneuploid-related miscarriage remains controversial.MethodsGenome-wide single-nucleotide ...
Wanting Fu, Wanting Fu, Wanting Fu, Wanting Fu, Qiuying Cui, Qiuying Cui, Qiuying Cui, Qiuying Cui, Zhiqin Bu, Zhiqin Bu, Zhiqin Bu, Zhiqin Bu, Hao Shi, Hao Shi, Hao Shi, Hao Shi, Qingling Yang, Qingling Yang, Qingling Yang, Qingling Yang, Linli Hu, Linli Hu, Linli Hu, Linli Hu   +23 more
doaj   +1 more source

Patient Perspectives on Psychiatric Polygenic Risk Scores in Reproductive Decision‐Making and Polygenic Embryo Screening

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 5, Page 338-348, July 2026.
ABSTRACT Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome‐wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions.
Lauren A. Ginn, Amanda R. Merner, Page M. Trotter, Kaitlynn P. Craig, Abigail C. Martinez, Ana Lucía Battaglino, Dorit Barlevy, Daphne M. Ayton, Takahiro Soda, Eric A. Storch, Gabriel Lázaro‐Muñoz, Stacey Pereira   +11 more
wiley   +1 more source

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

A novel variation in DEPDC5 causing familial focal epilepsy with variable foci

Frontiers in Genetics
BackgroundDisheveled, EGL-10, and pleckstrin (DEP) domain-containing protein 5 (DEPDC5) is a component of GTPase-activating protein (GAP) activity toward the RAG complex 1 (GATOR1) protein, which is an inhibitor of the amino acid-sensing branch of the ...
Yanchi Wang, Yanchi Wang, Yanchi Wang, Yanchi Wang, Wenbin Niu, Wenbin Niu, Wenbin Niu, Wenbin Niu, Hao Shi, Hao Shi, Hao Shi, Hao Shi, Xiao Bao, Xiao Bao, Xiao Bao, Xiao Bao, Yidong Liu, Yidong Liu, Yidong Liu, Yidong Liu, Manman Lu, Manman Lu, Manman Lu, Manman Lu, Yingpu Sun, Yingpu Sun, Yingpu Sun, Yingpu Sun   +27 more
doaj   +1 more source