Pages that link to "Q33965225"

The following pages link to Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method (Q33965225):

Displaying 50 items.

• Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing (Q24606803) (← links)
• A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer (Q24632225) (← links)
• Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification (Q24650735) (← links)
• Gene expression profiling of epithelial ovarian tumours correlated with malignant potential (Q24805553) (← links)
• Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences (Q24813458) (← links)
• New challenges for BRCA testing: a view from the diagnostic laboratory (Q26741855) (← links)
• Ovarian cancer biomarker discovery based on genomic approaches (Q27013687) (← links)
• Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay (Q28273020) (← links)
• Some molecular and clinical aspects of genetic predisposition to malignant melanoma and tumours of various site of origin (Q28390768) (← links)
• Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification (Q30478441) (← links)
• High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic (Q30832030) (← links)
• Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India (Q33259252) (← links)
• Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre (Q33276927) (← links)
• Ovarian carcinomas with genetic and epigenetic BRCA1 loss have distinct molecular abnormalities (Q33315604) (← links)
• Signal transduction networks in cancer: quantitative parameters influence network topology (Q33699205) (← links)
• Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection (Q33853726) (← links)
• Clinical and pathological characteristics of Chinese patients with BRCA related breast cancer. (Q33896012) (← links)
• Using genetics and genomics strategies to personalize therapy for cancer: focus on melanoma (Q33965328) (← links)
• An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition (Q34027876) (← links)
• A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients (Q34184703) (← links)
• Diagnosis of the haemoglobinopathies (Q34427285) (← links)
• Genotypic and phenotypic analysis of familial male breast cancer shows under representation of the HER2 and basal subtypes in BRCA-associated carcinomas (Q34475135) (← links)
• Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource (Q34480599) (← links)
• Ubiquitin becomes ubiquitous in cancer: emerging roles of ubiquitin ligases and deubiquitinases in tumorigenesis and as therapeutic targets (Q34503492) (← links)
• Genomic rearrangements in BRCA1 and BRCA2: A literature review. (Q34562526) (← links)
• A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer. (Q35000825) (← links)
• Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: a report from The Breast Cancer Family Registry (Q35029565) (← links)
• Molecular identification of Clonorchis sinensis and discrimination with other opisthorchid liver fluke species using multiple Ligation-depended Probe Amplification (MLPA). (Q35068417) (← links)
• SoftSearch: integration of multiple sequence features to identify breakpoints of structural variations (Q35073076) (← links)
• The mosaic nature of intergenic 16S-23S rRNA spacer regions suggests rRNA operon copy number variation in Clostridium difficile strains. (Q35129936) (← links)
• Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes (Q35304241) (← links)
• A reliable method for the detection of BRCA1 and BRCA2 mutations in fixed tumour tissue utilising multiplex PCR-based targeted next generation sequencing (Q35336961) (← links)
• Frequent p16-independent inactivation of p14ARF in human melanoma (Q35541602) (← links)
• Quantitative copy number analysis by Multiplex Ligation-dependent Probe Amplification (MLPA) of BRCA1-associated breast cancer regions identifies BRCAness (Q35683623) (← links)
• Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism (Q35807875) (← links)
• Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases. (Q35866022) (← links)
• Detection of exon skipping events in BRCA1 RNA using MLPA kit P002. (Q35981500) (← links)
• Gene-panel sequencing and the prediction of breast-cancer risk (Q36175072) (← links)
• Hypermethylation of the 5' CpG island of the p14ARF flanking exon 1β in human colorectal cancer displaying a restricted pattern of p53 overexpression concomitant with increased MDM2 expression (Q36316169) (← links)
• BRCA1 promoter deletions in young women with breast cancer and a strong family history: a population-based study (Q36420531) (← links)
• Overexpression of ERBB-2 was more frequently detected in malignant than benign pheochromocytomas by multiplex ligation-dependent probe amplification and immunohistochemistry (Q36478349) (← links)
• Optimal selection for BRCA1 and BRCA2 mutation testing using a combination of 'easy to apply' probability models (Q36611675) (← links)
• BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families (Q36694756) (← links)
• The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome (Q36730893) (← links)
• Screening of subtelomeric rearrangements in 100 Korean Pediatric patients with unexplained mental retardation and anomalies using subtelomeric FISH (fluorescence in situ hybridization). (Q36854087) (← links)
• The contribution of germline rearrangements to the spectrum of BRCA2 mutations (Q36930173) (← links)
• The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype (Q37147694) (← links)
• Assaying chromosomal inversions by single-molecule haplotyping (Q37211605) (← links)
• Conservation of protein abundance patterns reveals the regulatory architecture of the EGFR-MAPK pathway (Q37284069) (← links)
• Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome (Q37374452) (← links)