Results 161 to 170 of about 167,087,863 (243)

Profile of <i>DHX37</i> gene defects in human genetic diseases: 46,XY disorders of sex development. [PDF]

Front Endocrinol (Lausanne)
Peng H, Peng W, Chen J, Hu K, Zhang Y, Ma Y, Jiang H.   +6 more
europepmc   +1 more source

Risk of venous thromboembolism after SARS‐CoV‐2 vaccination—Evidence from genome‐wide association study and population‐based observational study

British Journal of Clinical Pharmacology, Volume 92, Issue 9, Page 3246-3256, September 2026.
Aim We aimed to investigate whether genetic variation is associated with venous thromboembolism after immunization with SARS‐CoV‐2 vaccines. Methods We conducted a genome‐wide association study (GWAS) on cases of venous thromboembolism within 42 days after SARS‐CoV‐2 vaccination, recruited from reports of adverse drug reactions sent to the Swedish ...
Sofia Attelind, Niclas Eriksson, Marco Cavalli, Yiyi Xu, Fredrik Nyberg, Anders Sundström, Mia Wadelius, Pär Hallberg   +7 more
wiley   +1 more source

A novel variant in the <i>MAP3K1</i> genomic locus reveals abnormal cell apoptosis as a potential pathogenic mechanism in 46, XY disorders of sex development. [PDF]

Mol Med Rep
Lu Y, Wei S, Wang S, Zhang J, Xu Y, Huang C, Pan W, Wang Z.   +7 more
europepmc   +1 more source

Development and Validation of a Nomogram Model for Predicting the Severity of Post‐Stroke Dysphagia Based on fNIRS‐Derived Brain Functional Connectivity Features

Brain and Behavior, Volume 16, Issue 9, September 2026.
ABSTRACT Objective This study aimed to develop and validate a nomogram model based on resting‐state functional near‐infrared spectroscopy (fNIRS) data to predict the severity of post‐stroke dysphagia (PSD), providing a basis for individualized assessment and intervention for PSD.
Bangqiang Hou, Qian Wen, Yiya Wang, Rong Zhang, Xiaojuan Chen, Yizheng Li, Yinxu Wang, Yulei Xie   +7 more
wiley   +1 more source

Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development. [PDF]

Asian J Androl
Mao Y, Huang JM, Chen-Zhang YW, Lin H, Zhang YH, Jiang JY, Wu XM, Liao L, Tang YM, Yang JY.   +9 more
europepmc   +1 more source

Jacobs Syndrome Presenting With Delayed Puberty and Central Hypogonadism: A Rare Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT In some rare instances, patients with 47,XYY syndrome can be short in height, accompanied by hypogonadism without the characteristic tall stature. In cases where there is delayed puberty and unusual growth pattern, a complete endocrine work‐up, including GnRH and hCG stimulation tests, along with chromosome studies, is vital.
Muhammad Hassaan Javaid, Ayesha Ahmad, Amna Ahmad, Muhammad Ajmal Khamosh, Muhammad Hanzla   +4 more
wiley   +1 more source

46,XY disorders of sex development and muscular dystrophy caused by Xp21 duplication: a case report and literature review. [PDF]

Transl Pediatr
Zheng XQ, Zhou QL, Gu W.
europepmc   +1 more source

Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese. [PDF]

Biol Sex Differ
Chen H, Chen G, Li F, Huang Y, Zhu L, Zhao Y, Jiang Z, Yan X, Yu L.   +8 more
europepmc   +1 more source

GATA4 mutations are uncommon in patients with 46,XY disorders of sex development without heart anomaly. [PDF]

Asian J Androl, 2018
Igarashi M, Mizuno K, Kon M, Narumi S, Kojima Y, Hayashi Y, Ogata T, Fukami M.   +7 more
europepmc   +1 more source

Discharge Remote Monitoring Systems for Glycemic Management After Hospital Discharge

Chronic Diseases and Translational Medicine, Volume 12, Issue 3, Page 253-259, September 2026.
Heat map of median number of telehealth interactions by subgroup and theme. Major themes identified included intervention after remote monitoring alerts (e.g., “Team reached out to participant and instructed participant to treat hypo.”), insulin dose adjustments (e.g., “Participant reported that prednisone dose is increasing … Called to discuss insulin
Nirali Shah, Camilla Levister, Riana Jumamil, Carol Levy, Margaret Crawford, Christian Hicks, Selassie Ogyaadu, Aslihan Ipek, Abigail Tamru, Madeleine Rouviere, Leah Kaplan, Ying Xu, Harsimran Singh, Daniel Cherñavvsky, Grenye O'Malley   +14 more
wiley   +1 more source