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Rabbit targeted genomic sequences after heterologous hybridization using human exome

BMC research notes, 2022-08, Vol.15 (1), p.1-282, Article 282

2022

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Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression

Genes, 2020-07, Vol.11 (8), p.853

2020

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Gene promoter and exon DNA methylation changes in colon cancer development - mRNA expression and tumor mutation alterations

BMC cancer, 2018-06, Vol.18 (1), p.695-695, Article 695

2018

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Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations

Human mutation, 2016-02, Vol.37 (2), p.184-193

2016

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Splicing mutation of a gene within the Duchenne muscular dystrophy family

Genetics and molecular research, 2016-01, Vol.15 (2)

2016

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Targeted capture and resequencing of 1040 genes reveal environmentally driven functional variation in grey wolves

Molecular ecology, 2016-01, Vol.25 (1), p.357-379

2016

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IVS8 ＋ 1 DelG, a Novel Splice Site Mutation Causing DFNA5 Deafness in a Chinese Family

Chinese medical journal, 2015-09, Vol.128 (18), p.2510-2515

2015

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KRAS Mutant Allele-Specific Imbalance (MASI) assessment in routine samples of patients with metastatic colorectal cancer

Journal of clinical pathology, 2015-04, Vol.68 (4), p.265-269

2015

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Targeted exon sequencing in Usher syndrome type I

Investigative ophthalmology & visual science, 2014-12, Vol.55 (12), p.8488-8496

2014

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Unambiguous detection of multiple TP53 gene mutations in AAN-associated urothelial cancer in Belgium using laser capture microdissection

PloS one, 2014, Vol.9 (9), p.e106301

2014

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Determination of EGFR mutations in single cells microdissected from enriched lung tumor cells in peripheral blood

Analytical and bioanalytical chemistry, 2013-09, Vol.405 (23), p.7377-7382

2013

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Detailed molecular characterisation of acute myeloid leukaemia with a normal karyotype using targeted DNA capture

Leukemia, 2013-09, Vol.27 (9), p.1820-1825

2013

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SMARCB1 protein and mRNA loss is not caused by promoter and histone hypermethylation in epithelioid sarcoma

Modern pathology, 2013-03, Vol.26 (3), p.393-403

2013

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Examination of CD26/DPPIV, p53, and PTEN expression in thyroid follicular adenoma

Diagnostic cytopathology, 2012-12, Vol.40 (12), p.1047-1053

2012

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Exon capture and bulk segregant analysis: rapid discovery of causative mutations using high-throughput sequencing

BMC genomics, 2012-11, Vol.13 (1), p.649-649, Article 649

2012

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A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective

BMC medical genomics, 2012-11, Vol.5 (1), p.50-50, Article 50

2012

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A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions

European journal of human genetics : EJHG, 2012-01, Vol.20 (1), p.58-63

2012

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A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

European journal of human genetics : EJHG, 2011-10, Vol.19 (10), p.1074-1081

2011

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Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing

Genetics in medicine, 2011-03, Vol.13 (3), p.218-229

2011

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Analysis of p53 mutations in histologically normal lung tissues and lung tumors from non-small cell lung cancer patients

Molecular carcinogenesis, 2009-07, Vol.48 (7), p.633-641

2009

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p53 Immunostaining guided laser capture microdissection (p53-LCM) defines the presence of p53 gene mutations in focal regions of primary prostate cancer positive for p53 protein

Prostate cancer and prostatic diseases, 2003-12, Vol.6 (4), p.281-285

2003

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Mutation and expression of the p53 gene during chemical hepatocarcinogenesis in F344 rats

Biochimica et biophysica acta. Gene structure and expression, 2003-07, Vol.1628 (1), p.40-49

2003

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Analysis of Fas Gene Mutations on Laser Capture Microdissected Specimens from Renal Cell Carcinoma

Cancer science, 2002-11, Vol.93 (11), p.1201-1206

2002

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Allelotype Analysis of Common Epithelial Ovarian Cancers with Special Reference to Comparison between Clear Cell Adenocarcinoma with Other Histological Types

Cancer science, 2002-07, Vol.93 (7), p.798-806

2002

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Rapid, Efficient Genotyping of Clinical Tumor Samples by Laser-Capture Microdissection/PCR/SSCP

Experimental and molecular pathology, 2001-06, Vol.70 (3), p.195-200

2001

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Rabbit targeted genomic sequences after heterologous hybridization using human exome

Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression

Gene promoter and exon DNA methylation changes in colon cancer development - mRNA expression and tumor mutation alterations

Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations

Splicing mutation of a gene within the Duchenne muscular dystrophy family

Targeted capture and resequencing of 1040 genes reveal environmentally driven functional variation in grey wolves

IVS8 ＋ 1 DelG, a Novel Splice Site Mutation Causing DFNA5 Deafness in a Chinese Family

KRAS Mutant Allele-Specific Imbalance (MASI) assessment in routine samples of patients with metastatic colorectal cancer

Targeted exon sequencing in Usher syndrome type I

Unambiguous detection of multiple TP53 gene mutations in AAN-associated urothelial cancer in Belgium using laser capture microdissection

Determination of EGFR mutations in single cells microdissected from enriched lung tumor cells in peripheral blood

Detailed molecular characterisation of acute myeloid leukaemia with a normal karyotype using targeted DNA capture

SMARCB1 protein and mRNA loss is not caused by promoter and histone hypermethylation in epithelioid sarcoma

Examination of CD26/DPPIV, p53, and PTEN expression in thyroid follicular adenoma

Exon capture and bulk segregant analysis: rapid discovery of causative mutations using high-throughput sequencing

A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective

A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing

Analysis of p53 mutations in histologically normal lung tissues and lung tumors from non-small cell lung cancer patients

p53 Immunostaining guided laser capture microdissection (p53-LCM) defines the presence of p53 gene mutations in focal regions of primary prostate cancer positive for p53 protein

Mutation and expression of the p53 gene during chemical hepatocarcinogenesis in F344 rats

Analysis of Fas Gene Mutations on Laser Capture Microdissected Specimens from Renal Cell Carcinoma

Allelotype Analysis of Common Epithelial Ovarian Cancers with Special Reference to Comparison between Clear Cell Adenocarcinoma with Other Histological Types

Rapid, Efficient Genotyping of Clinical Tumor Samples by Laser-Capture Microdissection/PCR/SSCP

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