Results 61 to 70 of about 55,696 (242)

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, EarlyView.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

The role of informed consent in aneuploidy screening

, 2006
http://dx.doi.org/10.1002/(ISSN)1469 ...
Treadwell, M.C., M. C. Treadwell
core   +1 more source

The Utilisation of Genetic Counselling Services Amongst Prenatal Healthcare Providers in Gauteng, South Africa

Prenatal Diagnosis, EarlyView.
ABSTRACT Introduction Congenital anomalies and genetic disorders contribute substantially to perinatal morbidity and mortality, particularly in low‐ and middle‐income countries. Prenatal healthcare providers play a key role in identifying affected pregnancies and referring to patients for genetic counselling; however, referral practices remain ...
Megan Duvenhage, Katryn Fourie, Monica Araujo   +2 more
wiley   +1 more source

Prenatal Screening Via cfDNA – Paired‐End Sequencing Utilizing Fragment Size Information Reduces the Screen Positive Rate for X Chromosome Aneuploidies

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal cfDNA screening has transformed care, yet it remains difficult to determine whether X aneuploidy signals originate from the patient or fetus, inflating screen positive and false positive rates. One potential solution is to incorporate fragment size data from paired‐end sequencing (PES).
Susan Hancock, Franchesca Liao, Theresa Boomer, Sung Kim, Eileen de Feo   +4 more
wiley   +1 more source

Aneuploidy Drives Genomic Instability in Yeast [PDF]

, 2011
Aneuploidy decreases cellular fitness, yet it is also associated with cancer, a disease of enhanced proliferative capacity. To investigate one mechanism by which aneuploidy could contribute to tumorigenesis, we examined the effects of aneuploidy on ...
Humpton, T. J., Sheltzer, J. M., Blank, Heidi Marie, Hiraoka, Yasushi, Hiraoka, Y., Sarah J. Pfau, Humpton, Timothy J., Brito, Ilana Lauren, Tange, Y., Niwa, O., Heidi M. Blank, Ilana L. Brito, Timothy J. Humpton, George, B. M., George, Benson M., Benson M. George, Amon, A., Pfau, Sarah Jeanne, Niwa, Osami, Sheltzer, Jason Meyer, Blank, H. M., Tange, Yoshie, Brito, I. L., Amon, Angelika B, Yoshie Tange, Yasushi Hiraoka, Jason M. Sheltzer, Osami Niwa, Angelika Amon, Pfau, S. J.   +29 more
core   +1 more source

Prenatal Screening for Common Aneuploidy in Southeast Asian Countries: A Systematic Review of Challenges and Opportunities

Prenatal Diagnosis, EarlyView.
ABSTRACT Southeast Asian (SEA) countries face persistent challenges in equitable healthcare delivery. Given the high prevalence of aneuploidy, increasing use of advanced prenatal screening technologies, and challenges reported in other regions, this study aimed to identify and assess existing policies and guidelines as well as the enablers and barriers
Rapphon Sawaddisan, Lucinda Freeman, Erin Turbitt, Alison McEwen   +3 more
wiley   +1 more source

The consequences of aneuploidy in budding yeast [PDF]

, 2014
Aneuploidy is defined as a state of having an abnormal number of chromosomes within a cell. In human, congenital aneuploidy is the leading cause of developmental abnormality and mental retardation. Somatically acquired aneuploidy has long been known as a
Zhu, Jin
core   +1 more source

Impact of Genomic Mutations on the Transcriptional Pathways and Tumor Microenvironment Landscape of Localized Early Prostate Cancer

The Prostate, EarlyView.
ABSTRACT Background The management of intermediate‐risk early prostate cancer (PCa) is challenging due to the difficulty in distinguishing indolent from aggressive tumors. This study explores the association between genomic alterations and the tumor and its microenvironment (TME) and implications for disease progression. Methods We performed multi‐omic
William Lautert‐Dutra, Camila M. Melo, Luiz P. Chaves, Francisco C. Souza, Vida Talebian, Cheryl Crozier, Mary Anne Quintayo, Linda Liao, Dan Dion, Fabiano P. Saggioro, Felipe S. Avante, Rodolfo B. dos Reis, Jeremy A. Squire, Jane Bayani   +13 more
wiley   +1 more source