Results 61 to 70 of about 29,886 (297)

Multiplex Ligation Dependent Probe Amplification Based Mutation Analysis of Dystrophin Gene in Nepalese Patients with Duchenne Muscular Dystrophy

Nepal Journal of Biotechnology, 2016
Duchenne muscular dystrophy (DMD) is X-linked recessive neuromuscular disorders caused due to mutation in dystrophin gene, leading to progressive muscle weakness.
Kushal Shrestha, Smita Shrestha, Saroj Khatiwada, Bishu Acharya, Sulochana Manandhar, Rohit Kumar Pokharel   +5 more
doaj   +1 more source

A multicenter study of genetic testing for Parkinson’s disease in the clinical setting

npj Parkinson's Disease, 2022
Parkinson’s disease (PD) guidelines lack clear criteria for genetic evaluation. We assessed the yield and rationale of genetic testing for PD in a routine clinical setting on a multicenter cohort of 149 early-onset and familial patients by exome ...
Anja Kovanda, Valentino Rački, Gaber Bergant, Dejan Georgiev, Dušan Flisar, Eliša Papić, Marija Brankovic, Milena Jankovic, Marina Svetel, Nataša Teran, Aleš Maver, Vladimir S. Kostic, Ivana Novakovic, Zvezdan Pirtošek, Martin Rakuša, Vladimira Vuletić, Borut Peterlin   +16 more
doaj   +1 more source

Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes [PDF]

, 2014
Background: Certain rare syndromes with developmental delay or intellectual disability caused by genomic copy number variants (CNVs), either deletions or duplications, are associated with higher rates of obesity.
Bertola, Debora R., Castro, Claudia I. E. de, D'Angelo, Carla S., Kim, Chong A., Koiffmann, Celia P., Lourenco, Charles M., Perez, Ana Beatriz Alvarez, Varela, Monica C.   +7 more
core   +1 more source

Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification [PDF]

British Journal of Cancer, 2004
Multiplex ligation-dependent probe amplification (MLPA) is a recently described method for detecting gross deletions or duplications of DNA sequences, aberrations which are commonly overlooked by standard diagnostic analysis. To determine the incidence of copy number variants in cancer predisposition genes from families in the Wessex region, we have ...
Bunyan, D.J., Eccles, D.M., Sillibourne, J., Wilkins, E., Thomas, N. Simon, Shea-Simonds, J., Duncan, P.J., Curtis, C.E., Robinson, D.O., Harvey, J.F., Cross, N.C.P.   +10 more
openaire   +3 more sources

Single‐Nucleus Multi‐Omics Reveals Hypoxia‐Driven Angiogenic Programs and Their Epigenetic Control in Sinonasal Squamous Cell Carcinoma

Advanced Science, EarlyView.
Single‐nucleus multi‐omics profiling of sinonasal squamous cell carcinoma unveils a hypoxia‐driven angiogenic axis. A specific hypoxic tumor subpopulation orchestrates endothelial tip cell differentiation via epigenetically regulated ADM and VEGFA secretion.
Chaelin You, Jaewoo Park, Jung Yeon Jang, Junho Noh, Jaehyun Lee, Geunho Kwon, Myeong Sang Yu, Yoo‐Sam Chung, Seung‐Jun Lee, Keunsoo Kang, Jihwan Park, Ji Heui Kim, Kyuho Kang   +12 more
wiley   +1 more source

Spectrum of mutations in the RB1 gene in Vietnamese patients with retinoblastoma

Molecular Vision, 2019
Purpose: Retinoblastoma (RB) is a rare childhood malignant disorder caused by the biallelic inactivation of the RB1 gene. Early diagnosis and identification of carriers of heritable mutations in RB1 can improve disease outcome and management.
Nguyen Cong Kiet, Le Thai Khuong, Do Duc Minh, Nguyen Huynh Minh Quan, Phan Thi Xinh, Nguyen Ngoc Chau Trang, Nguyen Thanh Luan, Nguyen Minh Khai, Hoang Anh Vu   +8 more
doaj  

IKZF1 deletion is an independent predictor of outcome in pediatric acute lymphoblastic leukemia treated according to the ALL-BFM 2000 protocol

Haematologica, 2013
IKZF1 gene deletions have been associated with a poor outcome in pediatric precursor B-cell acute lymphoblastic leukemia. To assess the prognostic relevance of IKZF1 deletions for patients treated on Berlin-Frankfurt-Münster Study Group trial ALL-BFM ...
Petra Dörge, Barbara Meissner, Martin Zimmermann, Anja Möricke, André Schrauder, Jean-Pierre Bouquin, Denis Schewe, Jochen Harbott, Andrea Teigler-Schlegel, Richard Ratei, Wolf-Dieter Ludwig, Rolf Koehler, Claus R. Bartram, Martin Schrappe, Martin Stanulla, Gunnar Cario   +15 more
doaj   +1 more source

PARPi Combining Nanoparticle LIN28B siRNA for the Management of Malignant Ascites

Advanced Science, EarlyView.
This study demonstrates that co‐inhibition of LIN28B and PARP using siLin28b/DSSP@lip‐PEG‐FA nanoparticles in combination with the PARP inhibitor BMN673 effectively suppresses the accumulation of malignant ascites associated with advanced cancers.
Yan Fang, Qian Shen, Yao Lin, Jing Zhu, Xiaolan Zhu, Rui Huang, Yijia Wu, Feiyang Shen, Qian Li, Guopei Zheng, Zhe Zhang, Qian Chu, Junhao Hu, Jianfeng Shen   +13 more
wiley   +1 more source

Clinical and genetic analysis of four Taiwanese families with autosomal dominant hereditary spastic paraplegia

Journal of the Formosan Medical Association, 2012
Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurodegenerative disorders. Defects in the SPG4 and SPG3A genes are the two leading causes of HSPs with autosomal dominant inheritance (AD-HSPs).
Min-Yu Lan, Ser-Chen Fu, Yung-Yee Chang, Yah-Huei Wu-Chou, Szu-Chia Lai, Rou-Shyan Chen, Chin-Song Lu   +6 more
doaj   +1 more source

A dose-dependent plasma signature of the safety and immunogenicity of the rVSV-Ebola vaccine in Europe and Africa. [PDF]

, 2017
The 2014-2015 Ebola epidemic affected several African countries, claiming more than 11,000 lives and leaving thousands with ongoing sequelae. Safe and effective vaccines could prevent or limit future outbreaks.
Agnandji, ST, Brosnahan, J, Combescure, C, Dayer, J-A, Grillet, S, Haks, MC, Harandi, AM, Huttner, A, Kaiser, L, Kremsner, PG, Medaglini, D, Modoux, C, Monath, T, Ottenhoff, THM, Quinten, E, Roux-Lombard, P, Siegrist, C-A, VEBCON and VSV-EBOVAC Consortia   +17 more
core   +2 more sources