Results 101 to 110 of about 50,394 (243)

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 521-530, February 2026.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Heyde Syndrome: A Literature Review

Health Science Reports, Volume 9, Issue 2, February 2026.
ABSTRACT Background and Aims Heyde syndrome, a triad of anemia from gastrointestinal (GI) bleeding, aortic valve stenosis, and acquired von Willebrand syndrome, primarily affects individuals over 65. Management requires a multidisciplinary approach, including medical therapy, endoscopic intervention, and valve replacement.
Yashika Gupta, Abdul Rehman Shahid Khan, Viraj Shetty, Yeshwini Murali Krishna, Ayisha Maqsood, Muhammad Husnain Ahmad, Masab Ali, Betsy Samuel, Ali Gohar, Abdul Waheed, Muhammad Bilal Afzal, Rehan Naseer Ahmad, Saqib Maqsood   +12 more
wiley   +1 more source

Identification of recurrent variants implicated in disease in bicuspid aortic valve patients through whole-exome sequencing [PDF]

, 2022
Shasha Chen, Qinchun Jin, Shiqiang Hou, Mingfei Li, Yuan Zhang, Lihua Guan, Wenzhi Pan, Junbo Ge, Daxin Zhou   +8 more
openalex   +1 more source

Transcatheter aortic valve replacement in Bicuspid Aortic Valve Disease: An Insight

Journal of Medical Research and Innovation, 2019
As per the current scenario, role of Transcatheter aortic valve replacement (TAVI) is controversial in bicuspid aortic valve stenosis. All the randomized clinical trials comparing outcomes of TAVI with surgery till date, have excluded patients with bicuspid aortic valve.
Mauricio Cohen, Arvin Narula, Varunsiri Atti, Nileshkumar Patel, Varun Kumar, Nikhil Nalluri, Varshil Mehta   +6 more
openaire   +2 more sources

Assessing the Utility of Targeted Neonatal Echocardiography for Congenital Heart Disease Detection: Retrospective Cohort Analysis

Journal of Clinical Ultrasound, Volume 54, Issue 1, Page 81-87, January 2026.
Targeted neonatal echocardiography showed good agreement with cardiology‐performed studies in detecting significant congenital heart disease. Most missed lesions were minor, highlighting both the value of TNE in neonatal care and the need for continued training to optimize diagnostic accuracy.
Eyad Bitar, Aimann Surak, Rula Agarushi, Dawn Pepper, Matt Hicks, Abbas Hyderi, Lisa K. Hornberger, Luke Eckersley, Kumar Kumaran   +8 more
wiley   +1 more source

Characterization of an induced pluripotent stem cell line (NCHi024-A) from a male infant with bicuspid aortic valve

Stem Cell Research
Bicuspid aortic valve is one of the most common congenital heart defects which have only two leaflets instead of three. NCHi024-A is an induced pluripotent stem cell (iPSC) line derived from peripheral blood mononuclear cells (PBMCs) of a male infant ...
Jiyoon Lee, Meghan Hanley, Shiqiao Ye, Yang Yu, Aaron Argall, Ming-Tao Zhao   +5 more
doaj   +1 more source

Differential flow improvements after valve replacements in bicuspid aortic valve disease: a cardiovascular magnetic resonance assessment

Journal of Cardiovascular Magnetic Resonance, 2018
BackgroundAbnormal aortic flow patterns in bicuspid aortic valve disease (BAV) may be partly responsible for the associated aortic dilation. Aortic valve replacement (AVR) may normalize flow patterns and potentially slow the concomitant aortic dilation ...
M. Bissell, M. Loudon, A. Hess, V. Stoll, E. Orchard, S. Neubauer, S. Myerson   +6 more
semanticscholar   +1 more source

Fetal Proximal and Distal Transverse Aortic Arch and Aortic Isthmus Measurements Between 19 and 34 Weeks of Gestation

Journal of Ultrasound in Medicine, Volume 45, Issue 1, Page 43-50, January 2026.
Objectives To assess fetal proximal and distal transverse aortic arch and aortic isthmus (AI) diameters between 19 and 34 weeks of gestation. Methods A prospective cross‐sectional descriptive study was performed in 466 low‐risk pregnancies between 19 and 34 weeks of gestation. Proximal transverse aortic arch (PTAA), distal transverse aortic arch (DTAA),
Hakan Erenel, Kubra Kurt Bilirer, Firat Ersan, Verda Alpay, Isa Ozyilmaz   +4 more
wiley   +1 more source

The long non-coding HOTAIR is modulated by cyclic stretch and WNT/β-CATENIN in human aortic valve cells and is a novel repressor of calcification genes.

PLoS ONE, 2014
Aortic valve calcification is a significant and serious clinical problem for which there are no effective medical treatments. Individuals born with bicuspid aortic valves, 1-2% of the population, are at the highest risk of developing aortic valve ...
Katrina Carrion, Jeffrey Dyo, Vishal Patel, Roman Sasik, Salah A Mohamed, Gary Hardiman, Vishal Nigam   +6 more
doaj   +1 more source

Genotype–Phenotype Correlations in Klinefelter and Turner Syndrome: A Decade of Sex Chromosome Aneuploidy Data From a Single Academic Medical Center

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
To understand the relationship between genotype and phenotype in sex chromosome aneuploidies, retrospective cytogenetic and clinical data was collected for Klinefelter Syndrome (n = 57) and Turner Syndrome (n = 92) cases from a single academic medical center from 2013 to 2022. The cohorts were divided into subcategories based on the genotype.
Stephanie A. Hart, Joel A. Morales‐Rosado, Xinxiu Xu, Ashwini K. Yenamandra   +3 more
wiley   +1 more source