Results 111 to 120 of about 18,361 (285)

Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia

Journal of Lipid Research, 2017
Familial hypercholesterolemia (FH) is a heritable condition of severely elevated LDL cholesterol, caused predominantly by autosomal codominant mutations in the LDL receptor gene (LDLR).
Michael A. Iacocca, Jian Wang, Jacqueline S. Dron, John F. Robinson, Adam D. McIntyre, Henian Cao, Robert A. Hegele   +6 more
doaj   +1 more source

Diagnostic Yield and Genotype–Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain

European Journal of Neurology, Volume 33, Issue 1, January 2026.
Clinical exome sequencing (CES) was performed on 108 Spanish patients with suspected hereditary spastic paraparesis (HSP), using a virtual 129‐gene panel and HPO‐based variant filtering. A molecular diagnosis was achieved in 53% of cases, with 21 causative genes identified (8 novel variants), SPAST (AD) and SPG7 (AR) being the most frequent genetic ...
Lidón Carretero‐Vilarroig, Rafael Sivera, Raquel Baviera, Carmen Espinós, Nuria Muelas, Juan Francisco Vazquez‐Costa, Elena Aller, Luis Bataller, Teresa Jaijo   +8 more
wiley   +1 more source

Cryptic intragenic deletion of the SHOX gene in a family with Léri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA) [PDF]

, 2008
Mariana F.A. Funari, Alexander A.L. Jorge, Emília M. Pinto, Ivo J.P. Arnhold, Berenice B. Mendonça, Mirian Yumie Nishi   +5 more
openalex   +1 more source

Familial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives

Journal of Neurochemistry, Volume 170, Issue 1, January 2026.
Cerebral cavernous malformations (CCMs) are vascular lesions in the brain caused by inherited genetic mutations in the CCM1/2/3 genes that disrupt normal blood vessel function. This work demonstrates that these mutations lead to endothelial dysfunction, inflammation, and iron accumulation, which can be detected by magnetic resonance imaging (MRI) and ...
Fabrícia Lima Fontes‐Dantas, Gustavo da Fontoura Galvão, Alexandre Martins Cunha, Pedro de Sena Murteira Pinheiro, Verônica Morandi, Jorge Marcondes de Souza   +5 more
wiley   +1 more source

Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield

Human Mutation, Volume 2026, Issue 1, 2026.
The extensive use of next‐generation sequencing (NGS) multi‐gene panels and advanced analysis algorithms have led to the identification of numerous genetic variants associated with breast, ovarian, and pancreatic cancer. Copynumber variations (CNVs), defined as deletions and duplications of specific DNA regions, account for up to 10% of pathogenic ...
Lia Bonamici, Lucia Artuso, Marco Marino, Angela Toss, Diletta Sidoti, Elena Barbieri, Marta Venturelli, Isabella Marchi, Chiara Pescucci, Rossella Manfredini, Laura Papi, Massimo Dominici, Laura Cortesi, Elena Tenedini, Enrico Tagliafico, Finlay Macrae   +15 more
wiley   +1 more source

Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA) [PDF]

, 2003
Howard R. Slater, D L Bruno, H Ren, M Pertile, J P Schouten, K H A Choo   +5 more
openalex   +1 more source

Efficacy of MLPA for detection of Y-chromosome microdeletions in infertile Brazilian patients

Journal of Assisted Reproduction and Genetics, 2020
C. S. Franchim, J. M. Soares-Júnior, Paulo C. Serafini, P. Monteleone, M. Coccuzza, É. Zanardo, M. Montenegro, A. T. Dias, L. Kulikowski, E. C. Baracat   +9 more
semanticscholar   +1 more source

Detection of Rare Thalassemia Variants Using Accurate Circular Consensus Long‐Read Sequencing

Human Mutation, Volume 2026, Issue 1, 2026.
Objective The aim of this study is to evaluate the efficacy of accurate circular consensus long‐read sequencing in the detection of rare thalassemia. Methods Conventional molecular analysis on globin genes has limitations because of the broad spectrum of genetic variants, complex genetics, and genotype–phenotype correlation. Accurate circular consensus
Xiaoqiang Zhou, Yue Chen, Shufen Chen, Jingli Lian, Yue Liu, Tingting Yang, Shuijuan Wu, Juan Liu, Xiang Huang, Xingkun Yang, George P. Patrinos   +10 more
wiley   +1 more source

Climatology and Large‐Scale Drivers of Extreme Heatwaves in the Caribbean: From 1971 to 2025

Geophysical Research Letters, Volume 52, Issue 24, 28 December 2025.
Abstract This study examines extreme heatwaves in the Caribbean from 1971 to 2025, focusing on their climatology and large‐scale drivers. We find statistically significant increase in heatwave events, with major urban centers experiencing up to three additional heatwave days and 1°F (∼0.6°C) rise in temperatures per decade.
F. B. Oppong, S. Gonzalez, K. Hibbert, P. A. Méndez‐Lázaro, J. E. González‐Cruz   +4 more
wiley   +1 more source

Detection of exon skipping events in BRCA1 RNA using MLPA kit P002 [PDF]

, 2012
Rita D. Brandão, Demis Tserpelis, E. Gómez, Marinus J. Blok   +3 more
openalex   +1 more source