Results 231 to 240 of about 242,800 (316)

Report of a Working Party on Organ Transplantation in Neonates [PDF]

, 1988

core  

Incidence of neonatal venous thromboembolism: a systematic review and meta-analysis of the literature. [PDF]

Res Pract Thromb Haemost
Pelland-Marcotte MC, Herrera Perez NM, Boileau E, Bouhêlier E, van Ommen H, Bhat R.   +5 more
europepmc   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Association between impaired renal function based on decline in serum creatinine level and brain injury in neonates with hypoxic-ischemic encephalopathy. [PDF]

Clin Exp Pediatr
Boget M, Rozalen W, Fayard J, Boucekine M, Gillot D, Grandvuillemin I, Boubred F.   +6 more
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Extracorporeal Membrane Oxygenation in Neonates (Letters and Reply) [PDF]

, 1990
Wiser, Lawrence C., Krauss, Alfred N., Ross, Gail S., Mike, Valerie   +3 more
core  

Retrospective Study of Pathogen Distribution and Antimicrobial Resistance in 283 Neonates with Bloodstream Infections at a Grade-A Tertiary Hospital in China, 2021-2024. [PDF]

Infect Drug Resist
Zhang M, Xia X, Xu M, Song D, Pan Y, Liang Z, Wang Z.   +6 more
europepmc   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Congenital cytomegalovirus infection drives oligoclonal expansion of cytotoxic γδ T cells from early fetal progenitors. [PDF]

J Immunol
Levan J, Vaaben AV, Tsui J, Davidson BR, Olive ME, Callaway PC, Nguyen CBT, Ilala M, Patel RK, Hunter RD, Fragiadakis GK, Combes AJ, Nankya F, Dorsey G, Kakuru A, Muhindo M, Feeney ME.   +16 more
europepmc   +1 more source

Evaluation of antibiotic consumption and resistance patterns among neonates: a 10-year retrospective study. [PDF]

Front Pediatr
Moras WD, Chaudhary RK, Patil S, Sindgikar SP, Avvaru D, Mateti UV.   +5 more
europepmc   +1 more source