Results 201 to 210 of about 245,166 (309)

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

Deep learning enables fully automated cineCT-based assessment of regional right ventricular function. [PDF]

Eur Heart J Imaging Methods Pract
Craine A, Simon K, Severance L, Scott A, Alshawabkeh L, Kim NH, Adler E, Narezkina A, Ben-Yehuda O, Contijoch F.   +9 more
europepmc   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Beta-3 Adrenoreceptor Agonist Mirabegron Improves Right Ventricular Function in a Rat Monocrotaline-Induced Pulmonary Hypertension Model. [PDF]

Pulm Circ
Mendes-Ferreira P, Tielemans B, Wagenaar A, Bouzin C, Adão R, Pokreisz P, De Mulder D, Leite-Moreira A, Brás-Silva C, Balligand JL, Dessy C, Delcroix M, Quarck R, Belge C.   +13 more
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Repurposing Medications for Treatment of Pulmonary Arterial Hypertension: What's Old Is New Again

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2019
Kurt W. Prins, Thenappan Thenappan, E. Kenneth Weir, Rajat Kalra, Marc Pritzker, Stephen L. Archer   +5 more
doaj   +1 more source

Echocardiographic evaluation of right ventricular function before and after percutaneous coronary intervention in patients with coronary artery disease and pulmonary hypertension: A single-center retrospective cohort study. [PDF]

Medicine (Baltimore)
Ding QS, Li M, Wang YH, Li L, Chen WQ, Wang Y, Dong J.   +6 more
europepmc   +1 more source

Striking Bone Marrow Plasmacytosis Resulting From Visceral Leishmaniasis

American Journal of Hematology, EarlyView.
Vishakha Sovani, Jennifer Ryan, Barbara J. Bain   +2 more
wiley   +1 more source

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