A new approach for the identification of common point mutations within the dystrophin gene using MLPA

A new approach for the identification of common point mutations within the dystrophin gene using MLPA

Bibliográfalaš dieđut
Váldodahkkit:	Skinner, A, Ashton, E, Sillibourne, J, Brown, T, Collins, A, Bunyan, D
Materiálatiipa:	Conference item
Almmustuhtton:	2005

Geahča maid

Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene.
Dahkki: Bunyan, D, et al.
Almmustuhtton: (2007)

MLPA-based point mutation analysis of the FBN1 gene in Marfan syndrome patients.
Dahkki: Bunyan, D, et al.
Almmustuhtton: (2004)

MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India
Dahkki: Sekar Deepha, et al.
Almmustuhtton: (2017-06-01)

MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB
Dahkki: María Luisa Guevara‐Fujita, et al.
Almmustuhtton: (2021-09-01)

Identification of Exonic Copy Number Variations in Dystrophin Gene Using Mlpa / Identificarea Variaţiilor Numărului de Copii în Gena Distrofinei Folosind Metoda Mlpa
Dahkki: Rusu Cristina, et al.
Almmustuhtton: (2014-12-01)

Identification of gross deletions in FBN1 gene by MLPA
Dahkki: Hang Yang, et al.
Almmustuhtton: (2018-10-01)

Identification and characterization of dystrophin-locus-derived testis-specific protein: A testis-specific gene within the intronic region of the rat dystrophin gene
Dahkki: Keitaro YAMANOUCHI, et al.
Almmustuhtton: (2024-01-01)

DELETIONS WITHIN THE DYSTROPHIN GENE RESULTING FROM REPLICATION ERRORS
Dahkki: Baldrich, K, et al.
Almmustuhtton: (1991)

Targeted Exon Skipping to Address “Leaky” Mutations in the Dystrophin Gene
Dahkki: Sue Fletcher, et al.
Almmustuhtton: (2012-01-01)

MLPA as a genetic assay for the prenatal diagnosis of common aneuploidy: the first Egyptian experience
Dahkki: Ola M. Eid, et al.
Almmustuhtton: (2022-07-01)

“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay
Dahkki: Amir Jahic, et al.
Almmustuhtton: (2019-09-01)

Intellectual Ability in the Duchenne Muscular Dystrophy and Dystrophin Gene Mutation Location
Dahkki: Rasic Milic V., et al.
Almmustuhtton: (2014-12-01)

DIVERSITY OF THE DYSTROPHIN GENE-PRODUCTS
Dahkki: Chelly, J, et al.
Almmustuhtton: (1993)

Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy.
Dahkki: Peter J Taylor, et al.
Almmustuhtton: (2010-01-01)

Design and Generation of MLPA Probe Sets for Combined Copy Number and Small-Mutation Analysis of Human Genes: EGFR as an Example
Dahkki: Malgorzata Marcinkowska, et al.
Almmustuhtton: (2010-01-01)

Impact of distinct dystrophin gene mutations on behavioral phenotypes of Duchenne muscular dystrophy
Dahkki: Amel Saoudi, et al.
Almmustuhtton: (2024-12-01)

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing
Dahkki: Darras Basil T, et al.
Almmustuhtton: (2001-10-01)

Application of MLPA and gap-PCR mapping to characterise a novel beta globin gene cluster deletion mutation in a family of Afghan ancestry
Dahkki: Gallienne, A, et al.
Almmustuhtton: (2009)

Function and genetics of dystrophin and dystrophin-related proteins in muscle.
Dahkki: Blake, D, et al.
Almmustuhtton: (2002)

Rapid screening for chromosomal aneuploidies using array-MLPA
Dahkki: van Beuningen Rinie, et al.
Almmustuhtton: (2011-05-01)

MLPA for confirmation of array CGH results and determination of inheritance
Dahkki: Thomas Helen, et al.
Almmustuhtton: (2010-10-01)

Medium-sized deletion in the BRCA1 gene: limitations of Sanger sequencing and MLPA analyses
Dahkki: Sandra Herman, et al.
Almmustuhtton: (2012-01-01)

Phenotypic features of dystrophin gene knockout pigs harboring a human artificial chromosome containing the entire dystrophin gene
Dahkki: Masahito Watanabe, et al.
Almmustuhtton: (2023-09-01)

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study
Dahkki: Marcella Neri, et al.
Almmustuhtton: (2020-03-01)

The Spectrum of Dystrophin Gene Mutations in Duchene Muscular Dystrophy Patients of South-Western Maharashtra in India
Dahkki: Kailas D. Datkhile, et al.
Almmustuhtton: (2015-04-01)

Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy
Dahkki: Triana-Fonseca P, et al.
Almmustuhtton: (2021-10-01)

MLPA in the initial genetic screening of patients with acute myeloid leukemia
Dahkki: Yahya Dinnar, et al.
Almmustuhtton: (2024-03-01)

Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants
Dahkki: Tuva Å. Solheim, et al.
Almmustuhtton: (2021-07-01)

The importance of dystrophin and the dystrophin associated proteins in vascular smooth muscle
Dahkki: Katherine M. Kaplan, et al.
Almmustuhtton: (2022-11-01)

Dystrophin and dystrophin-associated protein in muscles and nerves from monkey
Dahkki: M Royuela, et al.
Almmustuhtton: (2009-06-01)

The utrophin and dystrophin genes share similarities in genomic structure.
Dahkki: Pearce, M, et al.
Almmustuhtton: (1993)

MLPAnalyzer: Data Analysis Tool for Reliable Automated Normalization of MLPA Fragment Data
Dahkki: Jordy Coffa, et al.
Almmustuhtton: (2008-01-01)

The Duchenne and Becker muscular dystrophy gene and protein product dystrophin
Dahkki: Monaco, A
Almmustuhtton: (1989)

Dystrophin, the protein product of the Duchenne/Becker muscular dystrophy gene.
Dahkki: Monaco, A
Almmustuhtton: (1989)

OPTIMIZATION OF PLASMA CELL ENRICHMENT FOR CNV DETECTION BY SNP ARRAY AND MLPA
Dahkki: MIHAIELA LOREDANA DRAGOS, et al.
Almmustuhtton: (2022-06-01)

ProSeeK: A web server for MLPA probe design
Dahkki: Villatoro Sergi, et al.
Almmustuhtton: (2008-11-01)

Quantitative analysis of the dystrophin gene by real-time PCR
Dahkki: Maksimovic Nela, et al.
Almmustuhtton: (2012-01-01)

Molecular Characterization of Dystrophin Gene in Iraqi Patients with Muscular Dystrophy.
Dahkki: Areen T. Ramadhan Al-Hadithi, et al.
Almmustuhtton: (2014-07-01)

Unlocking the genetic blueprint of duchenne muscular dystrophy: A personalized approach with MLPA and WES
Dahkki: Priyanshu Mathur, et al.
Almmustuhtton: (2025-06-01)

Dystrophin in Fetal Muscle
Dahkki: J Gordon Millichap
Almmustuhtton: (1992-05-01)