Cargando…

Application of Chromosomal Microarray and Multiplex Ligation-dependent Probe Amplification in prenatal diagnosis

Detalles Bibliográficos
Autores principales:	Sharma, Pankaj, Roy Chowdhury, Madhumita, Gupta, Neerja, Shukla, Rashmi, Sudarshan, Shruthi, Ghosh, Manju, Deka, Deepika, Kabra, Madhulika
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Poster Presentation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4042371/ http://dx.doi.org/10.1186/1755-8166-7-S1-P127

Ejemplares similares

Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India
por: Dubey, Sudhisha, et al.
Publicado: (2017)

Can we rely on the multiplex ligation-dependent probe amplification method (MLPA) for prenatal diagnosis?
por: Omrani, Mir Davood, et al.
Publicado: (2014)

Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study
por: Boormans, Elisabeth MA, et al.
Publicado: (2008)

Economic evaluation of multiplex ligation-dependent probe amplification and karyotyping in prenatal diagnosis: a cost-minimization analysis
por: Boormans, Elisabeth M. A., et al.
Publicado: (2011)

Subtelomeric multiplex ligation-dependent probe amplification as a supplement for rapid prenatal detection of fetal chromosomal aberrations
por: Chen, Xiangnan, et al.
Publicado: (2014)

Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities
por: Xu, Zhiyong, et al.
Publicado: (2014)

Decoding of novel missense TSC2 gene variants using in-silico methods
por: Sudarshan, Shruthi, et al.
Publicado: (2019)

Oncogene amplification in male breast cancer: analysis by multiplex ligation-dependent probe amplification
por: Kornegoor, Robert, et al.
Publicado: (2012)

Erratum to: Subtelomeric multiplex ligation-dependent probe amplification as a supplement for rapid prenatal detection of fetal chromosomal aberrations
por: Chen, Xiangnan, et al.
Publicado: (2016)

Clinical experience with multiplex ligation-dependent probe amplification for microdeletion syndromes in prenatal diagnosis: 7522 pregnant Korean women
por: Lee, Dongsook, et al.
Publicado: (2019)

TMC1 may be a common gene for nonsyndromic hereditary hearing loss in Indian population
por: Singh, Pawan Kumar, et al.
Publicado: (2014)

MAPD: a probe design suite for multiplex ligation-dependent probe amplification assays
por: Zhi, Jizu
Publicado: (2010)

Prenatal Diagnosis of Fetal Peters' Plus Syndrome: A Case Report
por: Gupta, Neerja, et al.
Publicado: (2013)

Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification
por: Bunyan, D J, et al.
Publicado: (2004)

Cluster analysis of multiplex ligation-dependent probe amplification data in choroidal melanoma
por: Caines, Rhydian, et al.
Publicado: (2015)

Application of multiplex ligation-dependent probe amplification in the genetic testing of oculocutaneous albinism
por: Zhang, Ying-Zi, et al.
Publicado: (2019)

Development of a Flow-Trough Microarray based Reverse Transcriptase Multiplex Ligation-Dependent Probe Amplification Assay for the Detection of European Bunyaviruses
por: Hasib, Lekbira, et al.
Publicado: (2011)

Identification of a novel homozygous mutation in transmembrane channel like 1 (TMC1) gene, one of the second-tier hearing loss genes after GJB2 in India
por: Singh, Pawan Kumar, et al.
Publicado: (2017)

Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: A study in 203 Indian patients
por: Boggula, Vijay R., et al.
Publicado: (2014)

Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis
por: Van Opstal, Diane, et al.
Publicado: (2011)

Rapid Analysis of Saccharomyces cerevisiae Genome Rearrangements by Multiplex Ligation–Dependent Probe Amplification
por: Chan, Jason E., et al.
Publicado: (2012)

Promoter hypermethylation in male breast cancer: analysis by multiplex ligation-dependent probe amplification
por: Kornegoor, Robert, et al.
Publicado: (2012)

Three Cases of False-positive Multiplex Ligation-dependent Probe Amplification of BRCA1
por: Kim, Kyoung Bo, et al.
Publicado: (2022)

Erratum to: Development of a Flow-Through Microarray based Reverse Transcriptase Multiplex Ligation-Dependent Probe Amplification Assay for the Detection of European Bunyaviruses
por: Hasib, Lekbira, et al.
Publicado: (2011)

Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population
por: Mishra, Anushree, et al.
Publicado: (2017)

Added Value of HER-2 Amplification Testing by Multiplex Ligation-Dependent Probe Amplification in Invasive Breast Cancer
por: Kuijpers, Chantal C. H. J., et al.
Publicado: (2013)

Analysis of chromosome 22q11 copy number variations by multiplex ligation-dependent probe amplification for prenatal diagnosis of congenital heart defect
por: Zhang, Jingjing, et al.
Publicado: (2015)

Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders
por: Redeker, Egbert J.W., et al.
Publicado: (2008)

Multiplex ligation-dependant probe amplification study of children with idiopathic mental retardation in South India
por: John, Neetha, et al.
Publicado: (2013)

Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects
por: Suh, Mi Ri, et al.
Publicado: (2017)

A simple way to evaluate self-designed probes for tumor specific Multiplex Ligation-dependent Probe Amplification (MLPA)
por: Pedersen, Kristina, et al.
Publicado: (2010)

HER-2/neu amplification testing in breast cancer by Multiplex Ligation-dependent Probe Amplification: influence of manual- and laser microdissection
por: Moelans, Cathy B, et al.
Publicado: (2009)

HER-2/neu Amplification Testing in Breast Cancer by Multiplex Ligation-Dependent Probe Amplification in Comparison with Immunohistochemistry and In Situ Hybridization
por: Moelans, Cathy B., et al.
Publicado: (2009)

Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification
por: Furtado, Larissa V, et al.
Publicado: (2011)

Detection, Analysis and Clinical Validation of Chromosomal Aberrations by Multiplex Ligation-Dependent Probe Amplification in Chronic Leukemia
por: Abdool, Adam, et al.
Publicado: (2010)

Identification of Salmonella enterica Serovar Typhi Genotypes by Use of Rapid Multiplex Ligation-Dependent Probe Amplification
por: Pham Thanh, Duy, et al.
Publicado: (2013)

Assessment of p53 and ATM functionality in chronic lymphocytic leukemia by multiplex ligation-dependent probe amplification
por: te Raa, G D, et al.
Publicado: (2015)

Utility and limitations of multiplex ligation-dependent probe amplification technique in the detection of cytogenetic abnormalities in products of conception
por: Saxena, D, et al.
Publicado: (2016)

Evaluation of a multiplex ligation-dependent probe amplification assay for the detection of respiratory pathogens in oncological patients
por: Berning, Lucia, et al.
Publicado: (2014)

Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?
por: Manero-Azua, Africa, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_7ilb4lgaplitgq7snl0m6lv3uu