Cargando…

Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification

BACKGROUND: Connective tissue diseases characterized by aortic aneurysm, such as Marfan syndrome, Loeys-Dietz syndrome and Ehlers Danlos syndrome type IV are heterogeneous and despite overlapping phenotypes, the natural history, clinical manifestations and interventional course for each diagnosis ca...

Descripción completa

Detalles Bibliográficos
Autores principales:	Furtado, Larissa V, Wooderchak-Donahue, Whitney, Rope, Alan F, Yetman, Angela T, Lewis, Tracey, Plant, Parker, Bayrak-Toydemir, Pinar
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2011
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3196690/ https://www.ncbi.nlm.nih.gov/pubmed/21936929 http://dx.doi.org/10.1186/1471-2350-12-119

Ejemplares similares

A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective
por: Wooderchak-Donahue, Whitney L, et al.
Publicado: (2012)

VarRanker: rapid prioritization of sequence variations associated with human disease
por: O'Fallon, Brendan D, et al.
Publicado: (2013)

Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era
por: McDonald, Jamie, et al.
Publicado: (2015)

Characterization of a family mutation in the 5’ untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia
por: Ruiz-Llorente, Lidia, et al.
Publicado: (2019)

Genetic Variants Associated with Port-Wine Stains
por: Frigerio, Alice, et al.
Publicado: (2015)

Parkes Weber syndrome associated with two somatic pathogenic variants in RASA1
por: Flores Daboub, Josue A., et al.
Publicado: (2020)

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

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

5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia
por: Damjanovich, Kristy, et al.
Publicado: (2011)

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

Detection of Partial Deletions of Y-chromosome AZFc in Infertile Men Using the Multiplex Ligation-dependent Probe Amplification Assay
por: Bunyan, David J., et al.
Publicado: (2012)

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

Application of Chromosomal Microarray and Multiplex Ligation-dependent Probe Amplification in prenatal diagnosis
por: Sharma, Pankaj, et al.
Publicado: (2014)

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)

Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA)
por: Vijzelaar, Raymon, et al.
Publicado: (2013)

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)

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
por: D’Angelo, Carla S, et al.
Publicado: (2014)

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)

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

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-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)

Deletion/duplication mutation screening of TP53 gene in patients with transitional cell carcinoma of urinary bladder using multiplex ligation‐dependent probe amplification
por: Bazrafshani, Mohammad Reza R., et al.
Publicado: (2015)

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)

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)

Expanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation‐dependent probe amplification analysis
por: Sukalo, Maja, et al.
Publicado: (2017)

Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA)
por: González, Juan R, et al.
Publicado: (2008)

Identification of gross deletions in FBN1 gene by MLPA
por: Yang, Hang, et al.
Publicado: (2018)

Multiplex Ligation-Dependent Probe Amplification to Detect HER2 Amplification in Breast Cancer: New Insights in Optimal Cut-Off Value
por: Moelans, Cathy B., et al.
Publicado: (2010)

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)

Cannot write session to /tmp/vufind_sessions/sess_o1mh76vl4unj93eag0r7cemg84