Results 181 to 190 of about 304,351 (269)

Prenatal Presentation of ENPP1-Associated Generalized Arterial Calcification of Infancy at 15 + 1 Weeks: A Fetal Phenotype-Genotype Report. [PDF]

Prenat Diagn
Tekesin I, Kerst G, Chiaie LD, Dinwiddie A, Gabriel H.   +4 more
europepmc   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Pandemic-related stressors and social resources differentially predict competence and problem behavior trajectories of young children born during the pandemic. [PDF]

Child Dev
Gray SAO, Mulligan DJ, Carter AS, McCarthy K, Goldstein B, Drury SS, Grasso DJ, Briggs-Gowan MJ.   +7 more
europepmc   +1 more source

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

Allergic sensitization and respiratory infection in infancy-Too early for two-hits on lung function? [PDF]

Pediatr Allergy Immunol
Wadhwa V, Dharmage SC, Lodge C, Koplin JJ, Allen KJ, Tang MLK, Lowe AJ, Peters RL, Russell M.   +8 more
europepmc   +1 more source

Integrating Genetic Modifier Genotype With Serum Proteomics in Duchenne Muscular Dystrophy Clinical Trials Links LTBP4 Genetic Modifier to IL‐23/CD93 Pathways in Muscle

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang, Yuan Fang, Daniele Sabbatini, Elena Pegoraro, Luca Bello, Paula R. Clemens, Michela Guglieri, John van den Anker, Jesse Damsker, Laura Hagerty, Yetrib Hathout, Michael Ziemba, Lauren Morgenroth, Surajit Bhattacharya, Kanneboyina Nagaraju, Jyoti K. Jaiswal, Eric P. Hoffman   +16 more
wiley   +1 more source

Epidemiological Profiles of Respiratory Syncytial Virus Infection Among Hospitalized Children in a Tropical Setting: A Large Laboratory-Based Surveillance Study From Hainan, China. [PDF]

J Med Virol
Jia H, Zhao Z, Zhang X, Ji Z, Li R, Tian G, Zou C, Liu K, Wang M.   +8 more
europepmc   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Achalasia, alacrimia, and normal adrenal function in a toddler: GDP-mannose pyrophosphorylase A-congenital disorder of glycosylation mimicking Allgrove syndrome. [PDF]

Clin Exp Pediatr
Koppula P, Korrapati SSP, Venkatesh V.
europepmc   +1 more source

Seizures in infancy.

The Central African journal of medicine, 1975
openaire   +2 more sources