Results 201 to 210 of about 904,891 (304)

Exploring the impact of non-emergency inter-hospital neonatal transport on infants and their parents: a mixed-methods systematic review. [PDF]

BMJ Paediatr Open
Derks LA, Partouns MLJ, Koolen-De Koninck MR, Apperloo AJ, Obermann-Borst SA, Tjiam AM, Taal HR, Wagenaar JHL.   +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

ManyBabies 3: A Multi-Lab Study of Infant Algebraic Rule Learning. [PDF]

Dev Sci
Visser I, Geambasu A, Kachergis G, Oliveira CM, Rocha-Hidalgo J, Zettersten M, Ahamat T, Alessandroni N, Althaus N, Arunachalam S, Aussems S, Axelsson EL, Aydin Z, Baumgartner HA, Bergmann C, Bettoni R, Black AK, Bulf H, Byers-Heinlein K, Capparini C, Carroll L, Carstensen A, Cebulla R, Chen X, Chládková K, Colavolpe B, Constantine RR, Cortes EE, Doyle FL, Exner A, Forbes SH, Franchin L, Geraci A, Gervain J, Gonzalez-Gomez N, Hagelund S, Hannon EE, Havron N, Jaffe-Dax S, Johnson SP, Jędryczka W, Kartushina N, Struhl MK, Koleini A, Kona A, Kong SP, Kosie JE, Kuc̆erová M, Cook K, Leslie JW, Lew-Williams C, Li SWY, Livne R, Marklund E, Mayor J, Misiak M, Moreau D, Mueller JL, Muhinyi A, Quinn AA, Raijmakers MEJ, Rosslund A, Schwarz IC, Shinskey JL, Shukla M, Sirois S, Sorokowski P, Sowan B, Tauzin T, Tsui ASM, Turconi M, Urizar RC, Wagner L, Wermelinger S, Westermann G, Weyers I, Yuan LSB, Zaharieva MS, Zamuner TS, Zapiór B, Zasso S, Zhou JG, Soderstrom M, Levelt CC.   +83 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

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

Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh, Ramiah R. Vickers, Cheryl Mensah, Wanda Dosal, Jennifer R. McKinney, April D. Adams   +5 more
wiley   +1 more source

Comparison of visual estimation of ventricular systolic function with quantitative echocardiographic markers in newborn infants. [PDF]

Echo Res Pract
Pereira SS, Yeldo B, Fleming R, Satas S.
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