Results 111 to 120 of about 42,317 (250)

Echocardiographic findings in newborns and postneonatal infants undergoing preoperative evaluation for surgically correctable non-cardiac congenital malformations

Nigerian Journal of Paediatrics
Background: Congenital cardiac malformations could co-exist with surgically correctable non-cardiac congenital structural abnormalities. The occurrence of the two conditions portends increased anaesthetic risk and perioperative complications.
Onalo R, Osagie OO
doaj  

Elevational variation in heart mass and suppression of hypoxia‐induced right ventricle hypertrophy in Andean leaf‐eared mice (Phyllotis)

The Journal of Physiology, EarlyView.
Abstract figure legend In lowland mammals that ascend to high elevation, hypoxia‐induced changes in the pulmonary circulation can give rise to hypoxic pulmonary hypertension (HPH) and associated right‐ventricle (RV) hypertrophy. Andean mice with broad elevational ranges have greater heart mass relative to body size at higher elevations, but they ...
Naim M. Bautista, Nathanael D. Herrera, Marcial Quiroga‐Carmona, Chandrasekhar Natarajan, Adriana Rico‐Cernohorska, Jorge Salazar Bravo, Graham R. Scott, Guillermo D'Elía, Zachary A. Cheviron, Jay F. Storz   +9 more
wiley   +1 more source

A Systematic Review of Modeling Platforms for Atrioventricular Valves in Atrioventricular Septal Defects. [PDF]

J Cardiovasc Transl Res
Wang CC, Marx M, Barth E, D'Amore A, Luo H, Coyan G.   +5 more
europepmc   +1 more source

Expansion of the Phenotypic and Genotypic Spectrum of MED13L-Associated Neurodevelopmental Disorder: A Case Report and Literature Review. [PDF]

Mol Genet Genomic Med
Wang Z, Chen X, Cui Z, Qi X, Gu L, Liu Y, Zhao W, Jiang Y.   +7 more
europepmc   +1 more source

CONGENITAL HEART BLOCK WITH ATRIAL AND VENTRICULAR SEPTAL DEFECT [PDF]

Heart, 1943
openaire   +2 more sources

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2010-2018, September 2026.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Repair of Ventricular Septal Defect in Children with <i>TAB2</i> Gene Anomalies and Associated Cardiomyopathy. [PDF]

Surg Case Rep
Ugaki S, Ogura S, Tsuno K, Shimizu T, Masuda S, Mafune R, Momoki K, Kawachi S, Hamaya I, Hoshino K, Nomura K.   +10 more
europepmc   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2099-2105, September 2026.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

When an Atrial Septal Defect Is No Longer Silent: A Case Report of a Large Symptomatic Defect Presenting in Adulthood. [PDF]

Cureus
Greendyk JD, Hossain A, Jonnala VR, Allen WE.   +3 more
europepmc   +1 more source