Results 261 to 270 of about 733,597 (302)

Effect of Exposure to Room Temperature During Storage on Cryopreserved Umbilical Cord Blood Quality. [PDF]

Ann Lab Med
Kim K, Kang MS, Huh J.
europepmc   +1 more source

Oxidative stress biomarkers for fetal growth restriction in umbilical cord blood: A scoping review

Evelien L. Blok, Renée J. Burger, Jenny E.Van Bergeijk, Arno R. Bourgonje, Harry van Goor, Wessel Ganzevoort, Sanne J. Gordijn   +6 more
openalex   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Decreased Glucocorticoid Receptor Expression and Function in Cord Blood Immune Cells from Preterm Neonates with Morbidity. [PDF]

Int J Mol Sci
Anti NAO, Deming DD, Gheorghe CP, Tugung A, Gray-Hutto N, Zhang L, Mata-Greenwood E.   +6 more
europepmc   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Prenatal green space exposure and child's cognition: mediation by cord blood IGF1 in the ENVIRONAGE birth cohort.

Environ Int
Soerensen AE, Bijnens EM, Dockx Y, Martens DS, Sleurs H, Verheyen L, Plusquin M, Nawrot TS.   +7 more
europepmc   +1 more source

Cord Blood Mitochondrial DNA Copy Number and Physical Growth in Infancy and Toddlerhood: A Birth Cohort Analysis. [PDF]

Children (Basel)
Fukunaga H, Yamaguchi T, Iwata H, Ikeda A.   +3 more
europepmc   +1 more source

Células progenitoras hematopoyéticas de sangre de cordón umbilical Hematopoietic progenitor cells from umbilical cord blood

, 2012
Luz M Morera-Barrios, Juan Carlos Jaime Fagundo, Elvira Dorticós-Balea, Catalino R Ustáriz-García, Porfirio Hernández-Ramírez   +4 more
openalex   +1 more source

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti, Carlotta Pia Cristalli, Francesca Montanari, Luca Caramanna, Francesco Modestino, Irene Capelli, Valeria Aiello, Sarah Lerario, Cecilia Evangelisti, Iria Neri, Eugenio Brunocilla, Cesare Rossi, Marco Seri, Daniela Turchetti, Giovanni Innella   +14 more
wiley   +1 more source

Neonatal umbilical cord blood bilirubin as a biomarker for hyperbilirubinemia required phototherapy. [PDF]

Bioinformation
Kadam MS, Garg M, Sutay S, Matreja SS, Rangari P, Rangari A.   +5 more
europepmc   +1 more source