Results 101 to 110 of about 1,664,726 (300)

NICE: A Two‐Step Non‐Invasive Framework for Embryo cfDNA Read Enrichment and Quality Assessment

Advanced Science, EarlyView.
The non‐invasive NICE framework, built on an ensemble stacking machine learning model, prioritizes embryos by analyzing cell‐free DNA from spent culture medium. By integrating multimodal signals, including genomic and epigenetic profiles, this automated approach standardizes morphological assessment without human bias, paving the way for more precise ...
Xueya Zhou, Shu Ding, Zhenyi Zhang, Qiaoling Shangguan, Jie Qiao, Peijie Zhou, Yidong Chen   +6 more
wiley   +1 more source

Optimized Cas9‐Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders

Advanced Science, EarlyView.
An optimized Cas9‐enriched nanopore sequencing workflow, combined with STRiker, enables simultaneous analysis of disease‐associated STR loci from patient blood. The nCATS–STRiker workflow detects repeat expansions, de novo repeat motifs, interruption patterns, and methylation in a single assay, improving the genetic diagnosis of previously undiagnosed ...
Seungbok Lee, Chanju Jung, Minjeong Kim, Narae Kim, Gue‐Ho Hwang, Soon‐Tae Lee, Kon Chu, Sang Kun Lee, Han‐Joon Kim, Jong‐Hee Chae, Sangsu Bae, Jangsup Moon   +11 more
wiley   +1 more source

A genetic basis for a postmeiotic X versus Y chromosome intragenomic conflict in the mouse. [PDF]

, 2012
Intragenomic conflicts arise when a genetic element favours its own transmission to the detriment of others. Conflicts over sex chromosome transmission are expected to have influenced genome structure, gene regulation, and speciation.
Shantha K. Mahadevaiah (94714), Nabeel A. Affara (135531), Vaiman, Daniel, Julie Cocquet, Nabeel A Affara, Burgoyne, Paul S., Daniel Vaiman, Cocquet, Julie, Affara, Nabeel A., Julie Cocquet (135523), Mahadevaiah, Shantha K., Ellis, Peter J.I., Peter J I Ellis, Shantha K Mahadevaiah, Daniel Vaiman (83223), Paul S. Burgoyne (94717), Peter J. I. Ellis (135526), Paul S Burgoyne   +17 more
core   +1 more source

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

Advanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale, Barbara Vona, Richard J. Goodyear, Richard T. Osgood, Jun Shen, Sami S. Amr, Karen Mojica, Michaela A. H. Hofrichter, Jörg Schröder, Sophie Flandin, Paul Gratias, Ricardo Vera‐Monroy, Katherine Callahan, Kerry L. Gudlewski, Rolen Quadros, Masato Ohtsuka, JoAnn McGee, Edward J. Walsh, Cynthia C. Morton, Thomas Haaf, Channabasavaiah Gurumurthy, James E. Saunders, Guy P. Richardson, Artur A. Indzhykulian   +23 more
wiley   +1 more source

Chromosomal Studies in Individuals with Infertility

Revista Cubana de Investigaciones Biomédicas, 2020
Introduction: Infertile individuals frequently have chromosomal alteration. Objective: To determine the chromosomal constitution of infertile individuals.Methodology: A cross-sectional descriptive study was carried out based on the results of the ...
Maria Elena de la Torre Santos, Manuela Herrera Martínez, Ana Esther Algora Hernández, Gisela Noche Gonzalez, Arlan Machado Rojas, Madeivy Paz Garcia, Diley Rodríguez Conde, Estrella Reyes Hernández, Carolina Machado de la Torre, Daniel González Benítez   +9 more
doaj  

Increased Disarray of Extracellular Matrix Collagen‐I Fiber Network and Compromised Biomechanics in Aortae From Marfan‐Syndrome Mice Assessed Through Combined Opto‐Biomechatronics

Advanced Science, EarlyView.
Combined structure‐function assessment in aortic rings from Marfan mice using MechaMorph Opto‐Biomechatronics technology relates increased elasticity (stiffness) and dynamic viscosity and less ordered extracellular matrix 3D‐structure (collagen) as potential causes for impaired Windkessel function and compromised haemodynamics in Marfan's syndrome ...
Dominik Schneidereit, Anika Nagel, Vanessa I. T. Zwaans, Laureen Schurr, Jonas Ahr, Michael Haug, Anna Piluso, Alexandra Sporkova, Matthias Karck, Andreas H. Wagner, Oliver Friedrich   +10 more
wiley   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Embryo aneuploidy and ivf outcomes in patients with different spermatozoa aneuploidy rates

Гинекология, 2013
Our goal was to study the 13, 18, 21, X, Y chromosomes aneuploidy rate in the embryos of the couples with different spermatozoa aneuploidy rate.In prospective cohort study 56 infertile couples were divided into 3 groups by the spermatozoa aneuploidy rate
S A Sokur, N V Dolgushina, Zh I Glinkina, A G Gorshkova, E A Kalinina   +4 more
doaj  

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Clinical and Molecular Characterization of 46 Patients With Beckwith–Wiedemann Spectrum and Uniparental Disomy of 11p15

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas, Peter Lauffer, Niels Vos, Paola Lombardi, Marcel M. A. M. Mannens, Youp Zegers, Laura J. C. M. van Zutven, Aeilko H. S. Zwinderman, Mieke M. van Haelst, Jet Bliek   +9 more
wiley   +1 more source