Results 231 to 240 of about 90,363 (315)

Urinary Small Extracellular Vesicle DNA as a Biomarker for the Non‐Invasive Diagnosis of Bladder Cancer

Cancer Science, EarlyView.
Clinical application scenarios for the diagnosis of BC. A schematic diagram illustrating the use of sEV DNA liquid biopsy technology to differentiate between benign and bladder cancer patients. ABSTRACT Existing diagnostic technologies for bladder cancer (BC) suffer from low sensitivity, low specificity, or a lack of validation.
Tao Wang, Xin Liao, Jiyang Zhang, Xiaoya Xu, Wei Zhang, Xinlin Chen, Xinyu Zhai, Tongtong Zhang, Xiangyang Zhan, Xingyu Mu, Dadong Zhang, Jian Chen, Dongliang Xu, Mingyue Tan   +13 more
wiley   +1 more source

The Spectrum of Congenital Hypogonadotropic Hypogonadism: A 30‐Year Experience at a Tertiary Paediatric Centre

Clinical Endocrinology, EarlyView.
ABSTRACT Congenital hypogonadotropic hypogonadism (CHH) is a rare group of disorders of gonadotropin deficiency, either isolated or as a part of multiple pituitary hormone deficiencies (MPHD). We aimed to describe the spectrum of presentation, diagnosis, and management practices of CHH spanning 30 years at an Australian tertiary paediatric centre. This
Minha Kook, Richard G. McGee, Geoffrey Ambler, Yoon Hi Cho   +3 more
wiley   +1 more source

Whole-genome sequencing of cell-free DNA for assessment of minimal residual disease in high-risk smoldering multiple myeloma. [PDF]

Hemasphere
Baker C, Hill E, Kazandjian D, Papadimitriou M, Durante M, Pandey A, Ziccheddu B, Jelinek T, Coffey D, Walker B, Young R, Maclachlan K, Korde N, Parkinson N, Goldstein ZR, Runnels A, Hooper WF, Landau D, Robine N, Maura F, Landgren O, Diamond B.   +21 more
europepmc   +1 more source

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval

Clinical Genetics, EarlyView.
This study reports a female proband with a de novo 9q34.11 deletion affecting SET, who underwent a 28‐year diagnostic odyssey after an atypical Rett syndrome clinical diagnosis. Genomic and proteomics analyses confirmed SET haploinsufficiency, refining the critical 9q34.11 region, and supporting speech therapy benefits in improving meaningful ...
Angelo Condell, Elaine Zhang, Tim Sikora, Sean Massey, Nicole J. Van Bergen, Min Wang, Cas Simons, Katrina M. Bell, Daniella H. Hock, David A. Stroud, David Francis, Wendy A. Gold, Martin B. Delatycki, John Christodoulou, Simranpreet Kaur   +14 more
wiley   +1 more source

Sex-aware genome-wide assessment of de novo variants in autism across coding and noncoding regions. [PDF]

Hum Genomics
Turner TN.
europepmc   +1 more source

The Impact of Adopting Whole-Genome Sequencing for Tuberculosis Diagnosis in China: A Cost-Effectiveness Analysis. [PDF]

Open Forum Infect Dis
He Y, Li X, Liu C, Wong S, Fan B, Xu DR, Pagán JA, Yuan J, Yang Y, Li Y.   +9 more
europepmc   +1 more source

Refining the Genetic Contribution to Type 2 Diabetes Subtypes

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Background Type 2 diabetes (T2D) is a complex and highly heterogeneous disease driven in part by genetic predisposition and can be stratified into clinical subgroups to aid disease management. We recently grouped T2D subjects in the Qatar Biobank (QBB) cohort into Severe Insulin‐Deficient Diabetes (SIDD), Severe Insulin‐Resistant Diabetes ...
Nayra M. Al‐Thani, Salman M. Toor, Umm‐Kulthum Ismail Umlai, Usama Aliyu, Karsten Suhre, Omar M. E. Albagha   +5 more
wiley   +1 more source

Inferring tumor absolute copy number and clonal substructure from single-cell chromatin accessibility. [PDF]

Brief Bioinform
Wang Y, Deng Y, Li H, Yin X, Zhang Y, Chen Y, Zhang M, Wang X, Cao Z, Zhang S.   +9 more
europepmc   +1 more source

Landscape and Geography Determine Saproxylic Beetle Captures in Pheromone‐Baited Traps

Entomologia Experimentalis et Applicata, EarlyView.
Pheromone‐baited traps at 39 forest sites across southern Sweden captured 58 saproxylic beetle species, including seven Red‐listed taxa. The effect of surrounding forest cover on beetle abundance may depend on latitude and longitude: positive effects were strongest in warmer southern and eastern regions but weakened or reversed in colder northwestern ...
Markus Franzén, Christoffer Fristedt, Olof Persson, Per Milberg, Victor Johansson   +4 more
wiley   +1 more source