Results 191 to 200 of about 329,852 (264)

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Left ventricular diverticulum: A case report and differential diagnosis in an asymptomatic woman. [PDF]

Radiol Case Rep
Andrea D'Arma GM, Montatore M, Masino F, Chieppa DRR, Pollice S, Panunzio AG, Bartolomucci F, Guglielmi G.   +7 more
europepmc   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Exercise-Induced Hypertension Is Associated with Cardiac Remodeling in Middle-Aged Male Long-Distance Runners: A Cross-Sectional Study. [PDF]

Life (Basel)
Kim YJ, Park HS, Nam SH, Lee SE, Lee KH, Park Y, Yoon JH, Ji MY.   +7 more
europepmc   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Resistant to Ablation, Responsive to Hydroquinidine: Precision Medicine Guides Recovery in MEPPC Syndrome Cardiomyopathy. [PDF]

J Arrhythm
Ciofani JL, Raju H, Anastasius M.
europepmc   +1 more source

Correlation between diastolic function and fundus vascular features in coronary heart disease. [PDF]

Int J Ophthalmol
Wang J, Wang YC, Wang L, Li QJ, Jiang J, Wang ZL.   +5 more
europepmc   +1 more source

Strain echocardiography for assessment of cardiac graft function following donation after circulatory death heart transplantation. [PDF]

JHLT Open
Giao DM, Olverson GE, Basha A, Sonny A, Mehta V, Hamzat I, Walker R, Paneitz DC, Singh R, Drezek K, Ramsay A, Mastoris I, Brown K, Alireza Rabi S, Michel E, D'Alessandro DA, Osho AA.   +16 more
europepmc   +1 more source

Acute Cardiac Tamponade Caused by Right Ventricular Perforation After Temporary Transvenous Pacing. [PDF]

JACC Case Rep
Chandra E, Nugraha D, Suwanto D, Oktaviono YH.   +3 more
europepmc   +1 more source