Results 121 to 130 of about 30,614 (282)

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 496-501, February 2026.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips, Hagar Mor‐Shaked, Oded Shamriz, Raz Somech, Rawan Abu Omar, Smadar Eventov‐Friedman, Noa Ofek‐Shlomai, Dvorah Zaguer, Tamar Harel   +8 more
wiley   +1 more source

Rare Association of Absent Pulmonary Valve Syndrome with Double Outlet Right Ventricle and Hypoplastic Left Heart Complex [PDF]

, 2020
Arya, Bhawna, Buddhe, Sujatha, Chikkabyrappa, Sathish, Doshi, Arpan, Frandsen, Erik   +4 more
core   +2 more sources

Effect of left atrial ligation-driven altered inflow hemodynamics on embryonic heart development: clues for prenatal progression of hypoplastic left heart syndrome [PDF]

, 2021
Hüseyin Enes Salman, Maha Alser, Akshay Shekhar, Russell A. Gould, Fatiha M. Benslimane, Jonathan T. Butcher, Huseyin C. Yalcin   +6 more
openalex   +1 more source

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

Cognitive and Attentional Function in Children with Hypoplastic Left Heart Syndrome: A Pilot Study

, 2020
Rachel E. Siciliano, Lexa K. Murphy, Kemar V. Prussien, Lauren M. Henry, Kelly H. Watson, Niral Patel, Chelsea A. Lee, Colleen McNally, Larry W. Markham, Bruce E. Compas, Lori C. Jordan   +10 more
openalex   +2 more sources

Fluid Mechanics of Fetal Left Ventricle During Aortic Stenosis with Evolving Hypoplastic Left Heart Syndrome [PDF]

, 2022
Hong Shen Wong, Hadi Wiputra, Andreas Tulzer, Gerald Tulzer, Choon Hwai Yap   +4 more
openalex   +1 more source

CRISPR‐Cas9‐Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel–Gruber Syndrome Phenotype

genesis, Volume 64, Issue 1, February 2026.
ABSTRACT To determine whether TXNDC15 variation causes Meckel–Gruber syndrome (MKS), we assessed the pathogenicity of the frameshift variant c.560delA. A CRISPR–Cas9 generated mouse model carrying the equivalent Txndc15 c.512delA mutation was analyzed at embryonic day 15.5.
Yang Liu, Hui Wang, Liyuan Chen, Xiaoxia Wu, Zhiyong Xu, Qingfa Huang, Hu Zhang, Xiushu Cao, Xinyuan Liang, Xingjian Zhong, Caiqun Luo   +10 more
wiley   +1 more source

Maternal Myo‐Inositol Intake and Congenital Heart Defects in Offspring: A Population‐Based Case–Control Study

BJOG: An International Journal of Obstetrics &Gynaecology, Volume 133, Issue 3, Page 442-453, February 2026.
ABSTRACT Objective To investigate associations between maternal periconceptional (three months prior through the third pregnancy month) myo‐inositol intake and the odds of selected congenital heart defects in offspring. Design A population‐based case–control study using the National Birth Defects Prevention Study (NBDPS) database. Setting United States.
Ruiqi Cen, L. Joseph Su, Jun Ying, Mohammed S. Orloff, Elijah H. Bolin, Xiangyang Lou, Lynn M. Almli, Lorenzo D. Botto, Marilyn L. Browne, Richard H. Finnell, Mary M. Jenkins, Eirini Nestoridi, Andrew F. Olshan, Paul A. Romitti, Gary M. Shaw, Wendy N. Nembhard, the National Birth Defects Prevention Study   +16 more
wiley   +1 more source

Rapid bilateral pulmonary artery banding: A developmentally based proposal for the management of neonates with hypoplastic left heartCentral Message

JTCVS Open, 2023
Gil Wernovsky, MD, Mahmut Ozturk, MD, J. Wesley Diddle, MD, Ricardo Muñoz, MD, Yves d'Udekem, MD, PhD, Can Yerebakan, MD, PhD   +5 more
doaj   +1 more source

Back to Basics: A Curriculum to Address the Pediatric Cardiac Anesthesia Workforce Crisis

Pediatric Anesthesia, Volume 36, Issue 2, Page 122-127, February 2026.
ABSTRACT The field of pediatric cardiac anesthesia faces a critical workforce shortage. Survival of children with congenital heart disease (CHD) has improved dramatically, increasing both lifetime procedural demand and case complexity. At the same time, the supply of fellowship‐trained pediatric cardiac anesthesiologists is shrinking due to an aging ...
Lindsey Loveland, Susan C. Nicolson
wiley   +1 more source