Cargando…

Multiple Ligation-dependent Probe Amplification Along with Whole Exome Sequencing Should be Required for the Diagnosis of Structural Heterozygous Familial Hypercholesteremia

Detalles Bibliográficos
Autores principales:	Saotome, Masao, Maekawa, Yuichiro
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Japanese Society of Internal Medicine 2022
Materias:	Editorial
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9593164/ https://www.ncbi.nlm.nih.gov/pubmed/36184533 http://dx.doi.org/10.2169/internalmedicine.9412-22

Ejemplares similares

Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation-dependent probe amplification in an infant with congenital generalized lipodystrophy
por: Xie, Bobo, et al.
Publicado: (2020)

INTERRELATIONSHIPS BETWEEN EXPERIMENTAL HYPERCHOLESTEREMIA, MAGNESIUM REQUIREMENT, AND EXPERIMENTAL ATHEROSCLEROSIS
por: Vitale, J. J., et al.
Publicado: (1957)

Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification: Case series
por: Long, Xigui, et al.
Publicado: (2019)

THE MECHANISM RESPONSIBLE FOR THE HYPERCHOLESTEREMIA INDUCED BY TRITON WR-1339
por: Friedman, Meyer, et al.
Publicado: (1953)

A Case of Double Coronary Artery Infarction: Frequent Electrocardiogram Measurement Enables Prediction of the Pathophysiology
por: Saotome, Masao, et al.
Publicado: (2023)

Acute Myocardial Infarction in a 26-Year-Old Patient With Familial Hypercholesteremia
por: Miyayama, Takeshi, et al.
Publicado: (2016)

Whole exome sequencing and methylation-specific multiplex ligation-dependent probe amplification applied to identify Angelman syndrome due to paternal uniparental disomy in two unrelated patients
por: Li, Haibei, et al.
Publicado: (2019)

Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
por: Lee, Yu-Rong, et al.
Publicado: (2022)

Next-generation sequencing verified by multiplex ligation-dependent probe amplification to detect a new copy number variations in a child with heterozygous familial hypercholesterolemia
por: Yan, Hui, et al.
Publicado: (2021)

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

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

Marine-Derived Omega-3 Polyunsaturated Fatty Acids and Heart Failure: Current Understanding for Basic to Clinical Relevance
por: Sakamoto, Atsushi, et al.
Publicado: (2019)

Cardiac Insulin Resistance in Heart Failure: The Role of Mitochondrial Dynamics
por: Saotome, Masao, et al.
Publicado: (2019)

Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency
por: Cifuentes, Rosa, et al.
Publicado: (2023)

Whole Exome Sequencing Insufficient for a Definitive Diagnosis of a Patient with Compound Heterozygous Familial Hypercholesterolemia
por: Okada, Hirofumi, et al.
Publicado: (2022)

Case Study of Hypertriglyceridemia from COVID-19 Pfizer-BioNTech Vaccination in a Patient with Familial Hypercholesteremia
por: Cheung, Brian, et al.
Publicado: (2022)

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)

Azoospermia and reciprocal translocations: should whole-exome sequencing be recommended?
por: Ghieh, Farah, et al.
Publicado: (2021)

DIETARY FAT AND HYPERCHOLESTEREMIA IN THE CEBUS MONKEY : II. ESTERIFICATION AND DISAPPEARANCE OF CHOLESTEROL-4-C(14)
por: Portman, Oscar W., et al.
Publicado: (1957)

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)

Drug-refractory Heart Failure in Female Carrier of Duchenne Muscular Dystrophy: A Case of X-linked Dilated Cardiomyopathy
por: Ohtani, Hayato, et al.
Publicado: (2022)

Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing
por: Engelhardt, Karin R., et al.
Publicado: (2016)

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)

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

Comparison of whole genome amplification techniques for human single cell exome sequencing
por: Borgström, Erik, et al.
Publicado: (2017)

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)

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)

Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld–Rieger syndrome
por: Micheal, Shazia, et al.
Publicado: (2015)

Testosterone Deficiency Promotes Hypercholesteremia and Attenuates Cholesterol Liver Uptake via AR/PCSK9/LDLR Pathways
por: Yuefeng, Yu, et al.
Publicado: (2022)

Whole-Genome Amplification—Surveying Yield, Reproducibility, and Heterozygous Balance, Reported by STR-Targeting MIPs
por: Raz, Ofir, et al.
Publicado: (2022)

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)

Cannot write session to /tmp/vufind_sessions/sess_9cfqvv3nbvpjm6r2vl1oq0qk0h