Results 111 to 120 of about 50,473 (244)

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

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

Mono‐dimensional, two‐dimensional and Doppler echocardiographic measurements in healthy Standardbred neonatal foals in the first 5 days of life

Equine Veterinary Journal, Volume 58, Issue 5, Page 1345-1354, September 2026.
Abstract Background Bodyweight, age and breed influence the echocardiographic assessment of foals. There are no echocardiographic studies in Standardbred neonatal foals. Objectives To describe echocardiographic values for selected variables, evaluate intra‐ and inter‐observer variability and assess cardiac changes in the first 5 days of life in healthy
Fernanda Timbó D'el Rey Dantas, Giulia Forni, Gayle Hallowell, Carolina Castagnetti, Laura Menchetti, Giovanni Romito, Aliai Lanci, Jole Mariella, Francesca Freccero   +8 more
wiley   +1 more source

Post-Myocardial Infarction Ventricular Septal Defect Percutaneous Closure. [PDF]

JACC Case Rep
Jha S, Soltani P, Almanfi A.
europepmc   +1 more source

5D Flow MRI Reveals Respiration‐Driven Changes in Blood Flow Energetics in Congenital Heart Disease

Magnetic Resonance in Medicine, Volume 96, Issue 3, Page 1342-1354, September 2026.
ABSTRACT Purpose Hemodynamic monitoring is essential for patients with right‐sided congenital heart disease (CHD). Respiration may have an increased impact on pulmonary flow in these patients that cannot be assessed by standard tools including 4D flow MRI. This study uses 5D flow MRI to assess respiratory‐cycle variations in flow energetics in patients
Thara Nallamothu, Elizabeth K. Weiss, Justin Baraboo, Joshua D. Robinson, Cynthia K. Rigsby, Christopher W. Roy, Matthias Stuber, Michael Markl   +7 more
wiley   +1 more source

Diagnostic value of synchronized phonocardiogram-electrocardiogram monitoring in children with ventricular septal defect. [PDF]

Front Pediatr
Zhang Y, Pan J, Guo Y, Li H, Zhang F, Niu M, Xiong H, Chen Y.   +7 more
europepmc   +1 more source

Effects of Perioperative Music Interventions on Emotional Outcomes in Children and Adolescents: A Systematic Review and Meta‐Analysis Integrating Developmental Psychology and Music Education Perspectives

Pediatric Anesthesia, Volume 36, Issue 9, Page 1052-1077, September 2026.
ABSTRACT Objective To evaluate the effects of perioperative music interventions on emotional outcomes (preoperative anxiety, postoperative fear, emergence delirium) and related physiological parameters in children and adolescents undergoing surgery, and to examine potential effect modifiers.
Yuchen Wen, Jinying Han, Jiayin Gao, Jiaqi Lou, Ziyi Xiang   +4 more
wiley   +1 more source

Extrahepatic Biliary Atresia With Situs Inversus and Ventricular Septal Defect: A Case Report. [PDF]

Clin Med Insights Case Rep
Khan M, Farhan K, Rahim M, Farooq A, Raza AA, Samadi A, Arif F.   +6 more
europepmc   +1 more source

Intraoperative Cardiac Events During Pediatric Cardiac Magnetic Resonance Imaging Under Anesthesia: A Retrospective Cohort Study

Pediatric Anesthesia, Volume 36, Issue 9, Page 1143-1152, September 2026.
ABSTRACT Background Children with congenital heart disease (CHD) frequently undergo cardiac magnetic resonance imaging (MRI) under anesthesia. Although these procedures lack surgical stimulus, patients remain physiologically vulnerable, and the incidence of perioperative cardiovascular instability in this setting is poorly defined.
Theodora Wingert, Justine Liang, Kelly Feldman, Amelie Delaporte, Christine Nguyen‐Buckley, Tristan Grogan, Alexandre Joosten, John Paul Finn, Ihab Ayad   +8 more
wiley   +1 more source