Results 241 to 250 of about 172,842 (307)

Non‐Isolated Dandy‐Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions

Clinical Genetics, EarlyView.
Exome sequencing identified a diagnosis in 35% of 91 individuals with non‐isolated Dandy Walker malformation (DWM+). Only 24%–55% of these diagnoses could be made using a gene panel. We then demonstrated that DWM is a feature of disorders associated with ANKRD11, C2CD3, COL4A1, KMT2D, KRAS, OPHN1, SHOC2, SMARCB1, and WDR73.
Sarah Araji, Xiaonan Zhao, Jill A. Rosenfeld, Seema R. Lalani, Daryl A. Scott   +4 more
wiley   +1 more source

A systems genetics approach identifies roles for proteasome factors in heart development and congenital heart defects. [PDF]

PLoS Genet
Farr GH, Reid W, Hasegawa EH, Azzam A, Young I, Li ML, Olson AK, Beier DR, Maves L.   +8 more
europepmc   +1 more source

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for ANKRD11 Missense Variants

Clinical Genetics, EarlyView.
PhenoScore, an AI framework integrating facial recognition and clinical phenotype data, accurately identifies pathogenic ANKRD11 missense variants associated with KBG syndrome (AUC 0.95). Validated against functional data, PhenoScore outperforms REVEL and complements AlphaMissense, providing objective phenotypic evidence to reduce variants of uncertain
Evi Andriessen, Elke de Boer, Gholson J. Lyon, Bert B. A. de Vries, Charlotte W. Ockeloen, Alexander J. M. Dingemans   +5 more
wiley   +1 more source

Antenatal and Preoperative Factors Associated with 2-Year Outcome of Preterm Newborns with Biventricular Complex Congenital Heart Defects: A 23-Year Cohort Study. [PDF]

Children (Basel)
Qureshi M, Amiri S, Dinu IA, Vrban-McRae A, Savard W, Robertson CMT, Cheung PY.   +6 more
europepmc   +1 more source

Age at First RSV Hospitalisation and the Risk of Subsequent Bacterial Pneumonia

Acta Paediatrica, EarlyView.
Samuel Videholm, Karin Strandell, Maria Björmsjö, Andreas Tornevi, Sven Arne Silfverdal   +4 more
wiley   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

MicroRNA-320а as a novel biomarker at preclinical stage of necrotizing enterocolitis in term neonates with congenital heart defects. [PDF]

World J Clin Pediatr
Zaikova EK, Kaplina AV, Petrova NA, Pervunina TM, Golovkin AS, Kostareva AA, Kalinina OV.   +6 more
europepmc   +1 more source

Erratum: Cardiological rehabilitation, prehabilitation, and cardiovascular prevention in adults with congenital heart defects: tasks and services of the German Pension Insurance-part 1: preventive cardiology and prehabilitation. [PDF]

Cardiovasc Diagn Ther
Editorial Office.
europepmc   +1 more source

Role of Maternal Obesity in Offspring Cardiovascular Development and Congenital Heart Defects. [PDF]

J Am Heart Assoc
McMullan A, Zwierzynski JB, Jain N, Haneline LS, Shou W, Kua KL, Hota SK, Durbin MD.   +7 more
europepmc   +1 more source