Results 111 to 120 of about 193,158 (291)

Future Role of New Negative Inotropic Agents in the Era of Established Surgical Myectomy for Symptomatic Obstructive Hypertrophic Cardiomyopathy

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2022
Barry J. Maron, Martin S. Maron, Mark V. Sherrid, Ethan J. Rowin   +3 more
doaj   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Hypertrophic Osteoarthropathy

JMA Journal, 2023
Kojima, Hiroki, Oda, Aya, Shimane, Kenichi   +2 more
openaire   +5 more sources

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Hypertrophic cardiomyopathy [PDF]

Current Problems in Cardiology, 1993
openaire   +3 more sources

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Hypertrophic pyloric stenosis: our experience

, 2018
The authors describe their experience in laparoscopic treatment of hypertrophic pyloric stenosis in neonatal ...
Patanè Simone, Mantovani Alberto, Peretti Marta, Bianchi Federica, Zampieri Nicola, Scirè Gabriella, Camoglio Francesco Saverio   +6 more
core   +2 more sources

A Case Report of Percutaneous Transluminal Septal Myocardial Ablation in Patients with Hypertrophic Cardiomyopathy

پزشکی بالینی ابن سینا, 2004
A number of patients with severe obstruction due to hypertrophic cardiomyopathy have derived benefit at least over the short-term from inventional infarction of a portion of the interventricular septum by the  infusion of alcohol into a selectively ...
Mohammad Hasan Namazi, Neshat Nazari
doaj  

The Effect of Coronary Artery Disease on the Prognosis of Hypertrophic Cardiomyopathy: A Multi-Center Cohort Study

Reviews in Cardiovascular Medicine
Background: There is a shortage of patients with hypertrophic cardiomyopathy (HCM) with concurrent coronary artery disease (CAD), and the influence of CAD on the prognosis of patients with HCM is uncertain. This real-world cohort study
Guoqing Hou, Qian Liao, Huihui Ma, Yan Shu, Shengzhi Zeng, Yongmei Zhou, Liangjun Luo, Gang Zhao, Tao He, Mingjiang Liu, Jianhong Tao, Wei Hua, Xiaoping Li   +12 more
doaj   +1 more source

Biomechanical strain patterns in Meckel's cartilage underlie mandibular variation in FGFR2 mouse models

The Anatomical Record, EarlyView.
Abstract Sequence variations in fibroblast growth factor receptor 2 (FGFR2) are associated with craniosynostosis syndromes, disrupting craniofacial development, yet early mandibular alterations remain poorly characterized. This study examined Meckel's cartilage (MC) and mandibular morphology in mouse models of Apert (Fgfr2+/P253R) and Crouzon ...
Fred R. Foster, Alexandre Freire, Ana Cláudia Rossi, Jordan Wilson, Joan T. Richtsmeier, Kazuhiko Kawasaki, Felippe B. Prado, Susan M. Motch Perrine   +7 more
wiley   +1 more source