Results 171 to 180 of about 2,797,109 (304)

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

Sex-specific predictors of left ventricular diastolic dysfunction in untreated hypertension

, 2016
Joanna Jaroch,1 Olga Vriz,2 Zbigniew Bociąga,1 Caterina Driussi,2 Maria Łoboz-Rudnicka,1 Barbara Rzyczkowska,1 Krystyna Łoboz-Grudzień1,3 1Department of Cardiology, T Marciniak Hospital, Wroclaw, Poland; 2Division of Cardiology, San Antonio ...
Driussi C, Vriz O, Jaroch J, Rzyczkowska B, Łoboz-Grudzień K, Łoboz-Rudnicka M, Bociąga Z   +6 more
core  

Mitral Transcatheter Edge-to-Edge Repair in Severe Left Ventricular Dysfunction: Beyond Procedural Success. [PDF]

JACC Case Rep
Shiba S, Yamamoto M.
europepmc   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Transient Left Ventricular Dysfunction in Loeys-Dietz Syndrome With Loss-of-Function TGFBR1 Variants. [PDF]

JACC Case Rep
Hirota Y, Higo S, Tabata T, Kuramoto Y, Kido K, Kurashige M, Suetani Y, Akazawa Y, Watanabe M, Sakata Y.   +9 more
europepmc   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Mitral Transcatheter Edge-to-Edge Repair in Ventricular Functional Mitral Regurgitation and Very Severe Left Ventricular Dysfunction. [PDF]

JACC Adv
Omote K, Yamamoto M, Sugiura A, Shimura T, Kubo S, Izumi Y, Saji M, Asami M, Enta Y, Shirai S, Izumo M, Mizuno S, Watanabe Y, Amaki M, Kodama K, Otsuki H, Naganuma T, Bota H, Ohno Y, Yamawaki M, Hachinohe D, Ueno H, Nakazawa G, Otsuka T, Hayashida K, OCEAN-Mitral Investigators.   +25 more
europepmc   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Post-transplant diabetes is associated with late systolic left ventricular dysfunction after heart transplantation. [PDF]

JHLT Open
Evaldsson AW, Labaf A, Gjesdal G, Jumatate R, Braun OÖ, Gustav Smith J, Ingvarsson A.   +6 more
europepmc   +1 more source

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source