Results 211 to 220 of about 9,237,904 (297)

Association Between GRACE Score and Right Ventricular Function Assessed by 3D Echocardiography in Patients With Acute Inferior STEMI Undergoing Primary PCI: A Pilot Study. [PDF]

Health Sci Rep
Alimi H, Abouzari M, Esmaily H, Bagheri RK, Shariatifar H.   +4 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

Right Ventricular Function Improves With Pulmonary Vasodilator Treatment in Pediatric Patients With Pulmonary Hypertension and Multivessel Pulmonary Vein Stenosis in a Single Center Cohort. [PDF]

Pulm Circ
Avitabile CM, Butler K, Mondal A, Frank DB, Wang Y, Ash D, Mercer-Rosa L, O'Byrne ML, Callahan R.   +8 more
europepmc   +1 more source

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri, Fulvio D'Abrusco, Anna Pichiecchio, Thouraya Ben Younes, Ichraf Kraoua, Enza Maria Valente   +5 more
wiley   +1 more source

Impact of Right Ventricular Pacing Sites on Right Ventricular Function: Systematic Review and Meta-analysis. [PDF]

Arrhythm Electrophysiol Rev
DeAngelo S, Aryal B, Haghshomar M, Shobeiri P, Saluja D, Biviano A, Wan EY, Dizon J, Garan H, Yuyun MF, Yarmohammadi H.   +10 more
europepmc   +1 more source

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer, Britt‐Marie Anderlid, Lena Jacobson, Daniel Martín Muñoz, Erik Björck   +4 more
wiley   +1 more source

Resting right ventricular function in pectus excavatum: do haller index and age matter? [PDF]

Front Surg
Choi J, Rim G, Ahn S, Lee J, Jeong JY.
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

The Impact of High-Intensity Exercise in Normobaric Hypoxia on Right Ventricular Function in Trained and Untrained Men-An Echocardiographic Study. [PDF]

Compr Physiol
Gajda R, Czuba M, Płoszczyca K, Kowalik E, Niemaszyk A, Starczewski M, Grzebisz-Zatońska N, Kaczmarczyk K, Langfort J.   +8 more
europepmc   +1 more source