Results 171 to 180 of about 29,886 (297)

Clinical Utility of Multiplex Ligation-Dependent Probe Amplification in the Genetic Assessment of Patients with Myelodysplastic Syndrome. [PDF]

Biomedicines
Valeva R, Levkova M, Yahya D, Hachmeriyan M, Micheva I.   +4 more
europepmc   +1 more source

Long‐read sequencing for biodiversity analyses—A comprehensive guide

Methods in Ecology and Evolution, EarlyView.
Abstract DNA‐based monitoring of biodiversity has revolutionised our ability to describe communities and rapidly assess anthropogenic impacts on biodiversity. Currently established molecular methods for biomonitoring rely heavily on classic metabarcoding utilising short reads, mostly through Illumina data.
Iliana Bista, Alexandra Lino
wiley   +1 more source

Mexican Patients With Suspected 22q11.2 Deletion Syndrome: Clinical Characterization and Molecular Findings by Fluorescence In Situ Hybridization and Multiplex Ligation-Dependent Probe Amplification. [PDF]

Mol Genet Genomic Med
Aguayo-Orozco TA, Rivera H, Figuera LE, Esparza-García E, Perea-Díaz FJ, Jaloma-Cruz AR, Rizo-de la Torre LDC, Domínguez-Quezada MG.   +7 more
europepmc   +1 more source

Diagnosis of the accurate genotype of HKαα carriers in patients with thalassemia using multiplex ligation-dependent probe amplification combined with nested polymerase chain reaction. [PDF]

Chin Med J (Engl), 2020
Chen DM, Ma S, Tang XL, Yang JY, Yang ZL.   +4 more
europepmc   +1 more source

Acetylcholine From Solitary Chemosensory Cell, Not Neuron, Regulates Basal Cell Fate Driving Eosinophilic Chronic Rhinosinusitis With Nasal Polyps

Allergy, EarlyView.
This study identifies that Ach levels are elevated in eCRSwNP and primarily released from SCCs rather than neurons. Ach induces epithelial remodeling in eCRSwNP by binding to M1R/M3R and activating YAP signaling in basal cells, driving basal cell hyperplasia and abnormal differentiation. Blocking M1R/M3R with TB inhibits eCRSwNP progression.
Bowen Zheng, Tao Lu, Ji Wang, Yalan Zhang, Panhui Xiong, Jieyu Zeng, Shuman Li, Yu Jiang, Yijun Liu, Longlan Shu, Yuan Chen, Yin Zhou, Yue Gu, Dayu Guan, Chenxi Li, Lei Zhao, Shujin Wang, Jie Liu, Xia Ke, Yang Shen, Yucheng Yang   +20 more
wiley   +1 more source

Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebral Spectrum: A Systematic Review. [PDF]

J Pediatr Genet, 2020
Glaeser AB, Diniz BL, Deconte D, Santos AS, Rosa RFM, Zen PRG.   +5 more
europepmc   +1 more source

Seminal Plasma Exosomal miRNA Profiling Reveals hsa‐miR‐7‐5p as a Key Regulator of Sperm Motility in Asthenozoospermia

Andrology, EarlyView.
ABSTRACT Background Asthenozoospermia is a significant contributing factor to male infertility. Accumulating evidence indicates that impaired sperm motility is closely linked to dysregulated microRNA expression during spermatogenesis. Seminal plasma exosomes are enriched with diverse microRNAs, which play pivotal roles in modulating sperm motility, the
Zhi‐Jian Zhu, Meng‐Li Cui, Wen‐Jing Yuan, Jia‐Ning Zhang, Shuo Zhang, Xi‐Qiao Yao, Ruo‐Qing Li, Jin‐Feng Li, En‐Zhong Li   +8 more
wiley   +1 more source

Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification. [PDF]

BMC Med Genomics
Lu X, Wang R, Li M, Zhang B, Rao H, Huang X, Chen X, Wu Y.   +7 more
europepmc   +1 more source

Metastatic potential of small posterior uveal melanomas

Acta Ophthalmologica, EarlyView.
Abstract Purpose To investigate the prevalence of aggressive traits in small posterior uveal melanomas (UM). Methods This retrospective, multicentre cohort study included 804 patients with small posterior UM (≤9 mm in largest basal diameter, ≤3 mm in thickness) from centres in the UK, Germany, and Sweden.
Gustav Stålhammar, Helen Kalirai, Sarah E. Coupland, Salvatore Grisanti, Svenja Rebecca Sonntag, Ayseguel Tura, Antonio Eleuteri, Rumana N. Hussain, Heinrich Heimann, Hannah Coudé Adam   +9 more
wiley   +1 more source

A Pilot Study of Multiplex Ligation-Dependent Probe Amplification Evaluation of Copy Number Variations in Romanian Children with Congenital Heart Defects. [PDF]

Genes (Basel)
Bolunduț AC, Nazarie F, Lazea C, Șufană C, Miclea D, Lazăr C, Mihu CM.   +6 more
europepmc   +1 more source