Results 151 to 160 of about 316,216 (289)

Across-breed analyses of genome-wide association studies for stature and mammary gland morphology in cattle reveal pleiotropic effects of the Friesian POLLED haplotype. [PDF]

Genet Sel Evol
Watson N, He Q, Kadri NK, Leonard AS, Seefried FR, Pausch H.   +5 more
europepmc   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Unraveling the genetic links between stature and disease in East Asians: A multi-biobank genetic correlation and risk prediction study. [PDF]

PLoS Genet
Lin YJ, Liu TY, Yang JS, Li JP, Chiou JS, Lu HF, Ariyoshi K, Hikino K, Terao C, Chou CH, Liang WM, Chou IC, Lin TH, Liao CC, Huang SM, Tsai FJ.   +15 more
europepmc   +1 more source

POLG‐Related Parkinsonism with Good Response to Deep Brain Stimulation

Movement Disorders Clinical Practice, EarlyView.
Evdokia Efthymiou, Fabian Büchele, Sujitha Mahendran, Lennart Stieglitz, Bettina Balint   +4 more
wiley   +1 more source

Hypertrophic Cardiomyopathy as a Key Feature of MRAS‐Related Noonan Syndrome: New Case and Comprehensive Literature Review

Prenatal Diagnosis, EarlyView.
ABSTRACT Noonan syndrome (NS) is a rare multisystemic condition among the RASopathy group, characterized by a broad phenotypic spectrum and genetic variability. It results from pathogenic variants in genes regulating the RAS/MAPK pathway, affecting cell proliferation and differentiation.
Romain Martineau, Constance Wells, Florent Fuchs, Sophie Collardeau‐Frachon, Valentin Ruault, Sophie Colomb, Jean‐Michel Faure, Caroline Bartholmot, Marie Vincenti, Benjamin Ganne, Marjolaine Willems   +10 more
wiley   +1 more source

Short stature-related factors and nomogram-based risk prediction in children aged 7-12: evidence from Chaozhou, China. [PDF]

Front Endocrinol (Lausanne)
Zhang Q, Lin H, Xu W, Cai Y.
europepmc   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Submicroscopic 16q24.2-q24.3 deletion in a family with nonsyndromic short stature. [PDF]

Hum Genome Var
Narita C, Utsunomiya H, Hamada J, Kageyama I, Fukami M, Nakamura A.   +5 more
europepmc   +1 more source

The Heredity of Stature [PDF]

Science, 1915
openaire   +2 more sources

Evidence map and gap analysis of metabolic change in pediatric growth hormone deficiency treated with growth hormone

Pediatric Investigation, EarlyView.
This evidence map of 63 studies (n = 6158) showed growth hormone therapy in children with growth hormone deficiency has neutral glucose effects, mixed lipid outcomes, potential benefits for bone mineral density, bone mineral content, and parathyroid hormone, but generally no impact on thyroid function, body composition, or body mass index.
Wei Wu, Ningyi Song, Yue Zhao, Caiqi Du, Yuning Zhao, You Wu, Xiaoping Luo   +6 more
wiley   +1 more source