Results 191 to 200 of about 255,153 (264)

Wealth-related inequality in effective coverage of postnatal newborn care in Tanzania; A decomposition analysis of the Tanzania Demographic and Health Survey, 2022. [PDF]

PLoS One
Gebrekidan AY, Asgedom YS, Abebe M, Tebeje TM, Metkie KA, Degisew SM, Haile KE, Sertsewold SG, Kassie GA.   +8 more
europepmc   +1 more source

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source

The sound transmission for clinical diagnosis of developmental dysplasia disease of the hip in newborns: a diagnosis study. [PDF]

Front Pediatr
Padilla-Raygoza N, Flores-Vargas G, Gallardo-Luna MJ, Navarro-Olivos E, Patiño-Gutiérrez LG, Girón-Soto AV, Meza-Galván EA, Anguiano-Canchola IM, Luna-Santillán SE, Torres-Hernández JJ.   +9 more
europepmc   +1 more source

Resuscitating Newborns

, 1988
Clemenhagen, Carol
core  

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

Hidden and Delayed-Onset Hearing Loss in Children: Limitations of Newborn Hearing Screening and Future Directions. [PDF]

Children (Basel)
Kravos A.
europepmc   +1 more source

Debate: Severly Handicapped Newborns

, 1986
Kuhse, Helga, Singer, Peter
core  

Newborns With Major Congenital Malformations

, 1978
Haller, J. Alex
core   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Low Birth Weight Newborns at Public Hospitals in the Awi Zone of Northwest Ethiopia: Birth Defects and Associated Variables. [PDF]

Int J Pediatr
Mehare T, Getie M, Tegegne G, Sharew Y.
europepmc   +1 more source