Results 181 to 190 of about 329,852 (264)

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

Recurrent Takotsubo Syndrome and Pulmonary Embolism Revealing a Pheochromocytoma: A Diagnostic Pitfall. [PDF]

Cureus
Said IsmaIl AA, Moyambi J, Arous S, Drighil A, Meftout B.   +4 more
europepmc   +1 more source

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

Sinus Node Dysfunction in Takotsubo Syndrome: An Uncommon Presentation. [PDF]

JACC Case Rep
Zakynthinos GE, Kalogeras K, Vlachojannis GJ, Makavos G, Kokkinos NK, Souvaliotis N, Katsianos E, Vythoulkas-Biotis N, Dilaveris P, Siasos G.   +9 more
europepmc   +1 more source

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

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

Transcatheter Versus Surgical Aortic Valve Replacement in Severe Aortic Stenosis With Reduced Left Ventricular Ejection Fraction (≤50%): A Systematic Review and Meta-Analysis of Hemodynamic and Clinical Outcomes. [PDF]

Cureus
Santa Cruz-Venegas J, Romero-N A, López-Rubio DS, Valenzuela-García AL, Barajas-Arciga BF.   +4 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

Heart ventricular function in hospitalized patients with severe hypothyroidism and myxedema coma.

J Clin Endocrinol Metab
Lado-Abeal J, Munir I, Al-Zubaidi K, Mohammed S, Tadisina S, Stiewig-Rapp MJ, Arvandi A, Whisenant T, Ginzo-Villamayor MJ, Tejera-Perez C, Perez-Castro P, Fernandez-Rodriguez E, Guo A, Surampudi P, Bhattacharya R, Xiang YK, Smith TW, Fernandez-Pombo A.   +17 more
europepmc   +1 more source

Finerenone combined with guideline-directed medical therapy in patients with post-myocardial infarction heart failure: a real-world study. [PDF]

Front Pharmacol
Zhao D, Xia J, Yang Z, Yong Y, Wang L, Liu J.   +5 more
europepmc   +1 more source