Results 151 to 160 of about 110,880 (279)

Newborn screening for sickle cell disease in Caluquembe, southwestern Angola, 2024-2025. [PDF]

PLoS One
Su JJ, Kupua VS, Cummings D, Jacobsen KH.   +3 more
europepmc   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

Rapid whole genome sequencing in newborn screening for metabolic diseases. [PDF]

Front Pediatr
Zheng J, Yang X.
europepmc   +1 more source

Targeted Cytomegalovirus Testing Linked to Newborn Hearing Screening Was Feasible but Had Low Diagnostic Yield [PDF]

Emilie Luppescu Pedersen, Kirsten Fenger Hvilsted, Janko Moritz, Lise Heilmann Jensen, Hristo Stanchev, Tina Vasehus Madsen, Rikke Lykke Johansen, Xiaohui Chen Nielsen, Tatjana Zaharova, Dorthe Andersen, Ulrikka Nygaard, Stine Lund, Maren Johanne Heilskov Rytter   +12 more
openalex   +1 more source

Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening [PDF]

, 2015
Sarah C. Grünert, Anika Wehrle, Pablo Villavicencio‐Lorini, Ekkehart Lausch, Barbara Vetter, Karl Otfried Schwab, Sara Tucci, Ute Spiekerkoetter   +7 more
openalex   +1 more source

The Pivotal Role of GR‐CAR Pathway in Fetal Programming of Hepatic Cytochrome P450 3A Alteration in Adulthood

Advanced Science, EarlyView.
Prenatal dexamethasone exposure (PDE) persistently upregulates hepatic CYP3A1/CYP2B1 in offspring via glucocorticoid receptor (GR) activation. In vivo and in vitro studies show GR promotes P300/CBP binding to the constitutive androstane receptor (CAR) promoter, sustaining histone acetylation (H3K9/K27ac) and enhancing CYP expression. The GR–CAR pathway
Xiaoxiang Sun, Jie Liu, E Xiang, Xia Li, Xuerong Yan, Yuxi Wang, Feng Li, Hao Kou, Hui Wang, Yu Guo   +9 more
wiley   +1 more source

Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial. [PDF]

BMJ Open
Reimers R, Bailey M, Brown C, Chan K, Defay T, Finkel T, Kahn S, Protopsaltis L, Stoddard L, Talati AJ, Wigby K, Akil ASA, Wright M, Kingsmore SF, BeginNGS Consortium.   +14 more
europepmc   +1 more source

An Introduction to Mandatory HIV Screening of Newborns: A Child’s Welfare in Conflict with its Mother’s Constitutional Rights—False Dichotomies Make Bad Law

, 1996
Paris R. Baldacci
openalex   +1 more source

Newborn Pulse Oximetry Screening: Which Algorithm Is Best?

, 2016
Andrew K Ewer, Gerard R. Martin
openalex   +2 more sources

Esketamine/Ketamine: Dual‐Action Mechanisms and Clinical Prospects beyond Anesthesia in Psychiatry, Immunology, and Oncology

Advanced Science, EarlyView.
Esketamine and ketamine are widely used for perioperative analgesia and anesthesia. Despite their established roles in analgesia, sedation, and anesthesia, as well as emerging antidepressant, anti‐tumor, and anti‐inflammatory effects, their clinical use is limited due to side effects and addiction potential.
Yinxin Wang, Jiangang Xu, Xinyu Zhou, Lu Che, Minghan Qiu, Yang Liu, Ming Gao, Zhen Yang   +7 more
wiley   +1 more source