Results 51 to 60 of about 81,066 (200)

Correlation between telomere shortening in maternal peripheral blood and fetal aneuploidy

BMC Pregnancy and Childbirth
Background This study aimed to assess whether maternal telomere length is a more accurate predictor of trisomy 21 than maternal age while also exploring the factors influencing maternal and fetal telomere length.
Xiao-Xi Zhao, Le Le Bai
doaj   +1 more source

Analysis of the intracellular traffic of IgG in the context of Down syndrome (trisomy 21)

Scientific Reports, 2021
Persons with Down syndrome (DS, trisomy 21) have widespread cellular protein trafficking defects. There is a paucity of data describing the intracellular transport of IgG in the context of endosomal-lysosomal alterations linked to trisomy 21.
R. B. Cejas, M. Tamaño-Blanco, J. G. Blanco   +2 more
doaj   +1 more source

The Incidence of Associated Anomalies in Children with Congenital Duodenal Obstruction—A Retrospective Cohort Study of 112 Patients

Children, 2022
Background: Duodenal obstruction (DO) is a congenital anomaly that is highly associated with other anomalies, such as cardiac anomalies and trisomy 21. However, an overview of additional anomalies and patient-specific risk factors for cardiac anomalies ...
Adinda G. H. Pijpers, Laurens D. Eeftinck Schattenkerk, Bart Straver, Petra J. G. Zwijnenburg, Chantal J. M. Broers, Ernest L. W. Van Heurn, Ramon R. Gorter, Joep P. M. Derikx   +7 more
doaj   +1 more source

Dysregulation of H/ACA ribonucleoprotein components in chronic lymphocytic leukemia [PDF]

, 2017
Telomeres are protective repeats of TTAGGG sequences located at the end of human chromosomes. They are essential to maintain chromosomal integrity and genome stability.
Bezares, Raimundo F., Dos Santos, Patricia Carolina, Palau Nagore, Maria Virginia, Panero, Julieta, Slavutsky, Irma Rosa, Stanganelli, Carmen Graciela, Stella, Flavia   +6 more
core   +1 more source

A Female Patient with Down Syndrome and Low-Penetrance Leber's Hereditary Optic Neuropathy. [PDF]

, 2014
We present the case of a 19-year-old female with a history of Down syndrome (DS) who was referred to our neuro-ophthalmology clinic for evaluation of Leber's hereditary optic neuropathy (LHON).
Frousiakis, Starleen E, Karanjia, Rustum, Pouw, Andrew E, Sadun, Alfredo A   +3 more
core   +3 more sources

Transcriptional consequences of trisomy 21 on neural induction

Frontiers in Cellular Neuroscience
IntroductionDown syndrome, caused by trisomy 21, is a complex developmental disorder associated with intellectual disability and reduced growth of multiple organs. Structural pathologies are present at birth, reflecting embryonic origins.
José L. Martinez, José L. Martinez, Jennifer G. Piciw, Jennifer G. Piciw, Jennifer G. Piciw, Madeline Crockett, Isabella A. Sorci, Nikunj Makwana, Carissa L. Sirois, Yathindar Giffin-Rao, Anita Bhattacharyya, Anita Bhattacharyya   +11 more
doaj   +1 more source

Prenatal ultrasound screening for fetal anomalies and outcomes in high-risk pregnancies due to maternal HIV infection : a retrospective study [PDF]

, 2013
Objective: To assess the prevalence of prenatal screening and of adverse outcome in high-risk pregnancies due to maternal HIV infection. Study design: The prevalence of prenatal screening in 330 pregnancies of HIV-positive women attending the ...
Buxmann, Horst, Haberl, Annette Elisabeth, Herrmann, Eva, Louwen, Frank, Reitter, Anke, Schlößer, Rolf Lambert, Stücker, Anja-Undine   +6 more
core   +2 more sources

Trisomy 21

Pediatrics in Review
Citation: 'trisomy 21' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.11325 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
openaire   +3 more sources

“Biomarkers of immune hyperactivation and inflammation are elevated in pregnancies complicated by fetal Trisomy-21”

The Journal of Maternal-Fetal & Neonatal Medicine
Objective To compare interferon-linked/inflammatory biomarkers (neopterin, indoleamine-2,3-dioxygenase [IDO], and YKL-40) in maternal serum and amniotic fluid between Trisomy-21 and chromosomally normal pregnancies.Methods This prospective case-control ...
Ilgin Turkcuoglu, Selcan Sinaci, Rauf Melekoglu, Songul Unuvar, Nesibe Zeyveli Celik, Seyma Yasar, Busra Berfin Polat   +6 more
doaj   +1 more source

Hemophagocytic lymphohistocytosis in trisomy 21: successful treatment with interferon inhibition

Pediatric Rheumatology Online Journal, 2022
Background Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening condition of immune dysregulation primarily driven by the cytokine interferon gamma.
Allison Guild, Jordan Fritch, Sachit Patel, Adam Reinhardt, Melissa Acquazzino   +4 more
doaj   +1 more source