Results 161 to 170 of about 585,080 (270)

Hepatic pathology may develop before the Fontan operation in children with functional single ventricle: an autopsy study.

Journal of Thoracic and Cardiovascular Surgery, 2012
Matthew C Schwartz, L. Sullivan, Meryl S. Cohen, P. Russo, Anitha S. John, R. Guo, M. Guttenberg, E. Rand   +7 more
semanticscholar   +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

Ductus Venosus Agenesis in Fetuses: Epidemiological Data, Prenatal Findings, and Perinatal Outcomes-A Systematic Review. [PDF]

J Clin Med
Karaś R, Michalczyk A, Włoch A.
europepmc   +1 more source

Modification of hemi-Fontan operation for patients with functional single ventricle and anomalous pulmonary venous connection to the superior vena cava: mid-term results. [PDF]

Interact Cardiovasc Thorac Surg, 2016
Ito H, Murata M, Ide Y, Sugano M, Kanno K, Imai K, Ishido M, Fukuba R, Sakamoto K.   +8 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

Flow-Driven Right-to-Left Shunting Through the Patent Foramen Ovale Causing Hypoxemia and Embolism in a Partial Uhl Anomaly. [PDF]

JACC Case Rep
Laboratto LE, Vannoni G, Nieto G, Rancati J, Balletti L, Cestari G, Gagliardi JA, Kazelian L, Lax J.   +8 more
europepmc   +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

Advanced Echocardiographic Characterization of Neonatal Ebstein's Anomaly Using Myocardial Deformation Imaging: A Single-Center Study. [PDF]

Life (Basel)
Șuteu CC, Şuteu N, Gozar L, Marginean OC, Cerghit-Paler A, Săsăran MO, Râtea C, Făgărăşan A.   +7 more
europepmc   +1 more source

Beyond morphometry: the atrial septal defect pressure gradient as a dynamic predictor of mitral valve growth in borderline left hearts. [PDF]

Clin Exp Pediatr
Park HK.
europepmc   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source