Results 81 to 90 of about 30,861 (299)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Atrial Fibrillation in Eight New World Camelids. [PDF]

, 2015
BackgroundThere is limited information on the incidence of clinical signs, concurrent illness and treatment options for atrial fibrillation (AF) in New World Camelids (NWC).ObjectiveDescribe clinical signs and outcome of AF in NWC.AnimalsEight New World ...
Bozorgmanesh, R, Estell, KE, Griffiths, LG, Magdesian, KG, Stern, JA, Swain, EA   +5 more
core   +1 more source

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

American Journal of Medical Genetics Part A, EarlyView.
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

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Holter Monitor Rhythm Parameters in Healthy Infants, Children, and Adolescents: Defining Reference Limits With Meta‐Analysis

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Ambulatory electrocardiography has been in clinical use for 5 decades. However, reference limits for rhythm parameters in healthy infants, children, and adolescents have not been adequately defined.
James J. Joyce, Soujanya Bogarapu, Collins Odhiambo, Sunita J. Ferns, Harold L. Kennedy   +4 more
doaj   +1 more source

Bipolar radiofrequency catheter ablation between the left ventricular endocardium and great cardiac vein for refractory ventricular premature complexes originating from the left ventricular summit

Journal of Arrhythmia, 2020
Ablation for ventricular arrhythmias originating from the left ventricular (LV) summit is sometimes challenging. Bipolar radiofrequency catheter ablation (RFCA) is effective for refractory arrhythmias; little is known about bipolar RFCA from the coronary
Sayuri Tokioka, Seiji Fukamizu, Iwanari Kawamura, Takeshi Kitamura, Rintaro Hojo   +4 more
doaj   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Prognostic significance of exercise-induced premature ventricular complexes: a systematic review and meta-analysis of observational studies [PDF]

, 2017
BACKGROUND: Exercise-induced premature ventricular complexes (EI-PVCs) are common during exercise stress tests. Their optimal management and prognostic significance remain uncertain.
Lambiase, P, Lee, V, Perera, D
core   +2 more sources

T. rex cognition was T. rex‐like—A critical outlook on diverging views of the neurocognitive evolution in dinosaurs

The Anatomical Record, EarlyView.
Abstract A recent debate has emerged between Caspar et al. (2024) and Herculano‐Houzel (2023) on inferring extinct dinosaur cognition by estimating brain neuron counts. While thought‐provoking, the discussion largely overlooks the function of cognition, as well as partly neglects the difficulties involved in estimating neuron numbers, which according ...
Thomas Rejsenhus Jensen, Ivo Jacobs, Kristina Kverková, Lona Lalić, Alexandra Polonyiová, Patrik Stehlík, Stephan A. Reber, Mathias Osvath   +7 more
wiley   +1 more source

The involvement of Rcc2 in mammalian neurogenesis [PDF]

, 2016
Rcc2 is a Rac guanine nucleotide exchange factor recently identified as a principal signaling component of integrin adhesion complexes that also plays a central role in the completion of mitosis and cytokinesis.
Yanushefski, Lisa
core   +1 more source