Results 221 to 230 of about 255,153 (264)

Differential Diagnosis of Mucopolysaccharidoses Types I, II, III, IVA, and VI Through Analysis of Leukocytic Inclusions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance.
Márcio A. W. Melo, Marcelo S. Kertenetzky, Cristina M. Silveira, Maíra M. Ribeiro, Paula F. Medeiros, Gabriela S. Arcanjo   +5 more
wiley   +1 more source

The length of the embryo culture in assisted reproductive technology does not have a major impact on newborn DNA methylation. [PDF]

Biosci Rep
Ciantar J, Raitoharju E, Marttila S, Lehtimäki T, Pohjonen EM, Ahinko K, Kaartinen N.   +6 more
europepmc   +1 more source

Allowing Handicapped Newborns to Die

, 1983
O'Donnell, Michael
core  

Influence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).
Ranim Mahmoud, Merlin G. Butler, Wai Park, Jennifer L. Miller, Daniel J. Driscoll, June‐Anne Gold, Virginia Kimonis   +6 more
wiley   +1 more source

Neonatal complications in late-preterm and early-term infants: a systematic review of observational studies. [PDF]

Cochrane Database Syst Rev
Wróblewska-Seniuk K, Arham M, Geist M, Björklund M, Rose CJ, Sibrecht G, Borys F, Soll RF, Fiander M, Bruschettini M, supported by the Cochrane Neonatal Review Group and Cochrane Sweden.   +10 more
europepmc   +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source

Video-based artificial intelligence for automated neonatal respiratory monitoring. [PDF]

Eur J Pediatr
Ribeiro SNS, Fernandes AER, Vargas MERR, de Carvalho Velame R, Filho MAT, Leão RN, Maia H, Pereira SA, da Glória Rodrigues-Machado M.   +8 more
europepmc   +1 more source

Why They Kill Their Newborns

, 1997
Pinker, Steven
core  

Effect of early skin-to-skin contact after vaginal birth on neonatal stress and day-5 bilirubin levels: a randomized trial. [PDF]

Sci Rep
Kanad N, Yavuz B.
europepmc   +1 more source

Maternal and Neonatal Vitamin D Status at Preterm Delivery-A Cross-Sectional Study. [PDF]

Nutrients
Zarlenga M, Głuszczak-Idziakowska E, Czech-Kowalska J, Skrzypek M, Wilińska M.   +4 more
europepmc   +1 more source