Results 121 to 130 of about 279,070 (262)

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Editorial: The role of inflammation in organ injury

Frontiers in Immunology
Zhen Guo, Zhen Guo, Di Fan, Di Fan
doaj   +1 more source

Filamin C Genetic Cardiomyopathy Presenting as Acute Myocardial Injury. [PDF]

JACC Case Rep
Alexandrino FB, Curtis B, Nguyen C, Kwon D, Ramchand J, Tang WHW.   +5 more
europepmc   +1 more source

Endurance exercise and myocardial injury [PDF]

European Journal of Preventive Cardiology, 2018
Øyunn, Kleiven, Stein, Ørn
openaire   +2 more sources

Postoperative Hypotension and Myocardial Injury: Reply [PDF]

Anesthesiology, 2020
Liem, Victor G.B., Hoeks, Sanne E., Van Lier, Felix   +2 more
openaire   +2 more sources

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Acute Myocardial Injury in the Setting of Hypertensive Emergency: A Case Report. [PDF]

Cureus
Saidi S, Moujahid M, Mehssani Z, Nadhil Z, Fellat N.   +4 more
europepmc   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Respiratory syncytial virus infections and myocardial injury: the GEMINI Initiative. [PDF]

Eur Heart J
McAlister FA, Guo Y, Roberts SB, Verma AA.   +3 more
europepmc   +1 more source

Myocardial injury in burn shock

Plastic and Reconstructive Surgery, 1961
openaire   +3 more sources