HKPMDC
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Publications
Breast Cancer Highlight
1. A BRCA2 founder mutation and seven novel deleterious BRCA mutations in southern Chinese women with breast and ovarian cancer. [PubMed]
2. A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer. [PubMed]
3. Characterization of the pathogenic mechanism of a novel BRCA2 variant in a Chinese family. [PubMed]
4. Clinical and pathological characteristics of Chinese patients with BRCA related breast cancer. [PubMed]
5. ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes. [PubMed]
6. High-resolution melting analysis for rapid screening of BRCA2 founder mutations in Southern Chinese breast cancer patients. [PubMed]
7. Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis. [PubMed]
8. MicroRNAs as New Players for Diagnosis, Prognosis, and Therapeutic Targets in Breast Cancer. [PubMed]
9. Novel BRCA1 and BRCA2 genomic rearrangements in Southern Chinese breast/ovarian cancer patients. [PubMed]
10. Quantitative analysis and diagnostic significance of methylated SLC19A3 DNA in the plasma of breast and gastric cancer patients. [PubMed]

Cancer Biomarkers
11. Amplification, mutation and loss of heterozygosity of the EGFR gene in metastatic lung cancer.[PubMed]
12. Detection of KRAS mutations in colorectal cancer by high-resolution melting analysis. [PubMed]
13. EGFR gene mutation study in cytology specimens. [PubMed]
14. Synchronous primary lung cancer and epidermal growth factor receptor mutation.[PubMed]
15. Evaluation of two real-time PCR assays for in-vitro diagnostic use in the rapid and multiplex detection of EGFR gene mutations in NSCLC. In Press

Hematopathology
16. A novel beta-delta globin gene fusion, anti-Lepore Hong Kong, leads to overexpression of delta globin chain and a mild thalassaemia intermedia phenotype when co-inherited with beta(0)-thalassaemia. [PubMed]
17. Burkitt lymphoma presenting as posterior reversible encephalopathy syndrome secondary to hypercalcaemia. [PubMed]
18. Combined factors V and VIII deficiency (F5F8D) in a Chinese family due to compound heterozygosity for nonsense mutations of the LMAN1 gene. [PubMed]
19. Detection and characterisation of beta-globin gene cluster deletions in Chinese using multiplex ligation-dependent probe amplification. [PubMed]
20. Detection of FIP1L1-PDGFRA fusion by FISH. [PubMed]
21. Hematologic and genetic characterization of an MYH9-related disorder in a Chinese family. [PubMed]
22. JAK2 V617F due to a novel TGCT mutation at nucleotides 1848-1849: diagnostic implication. [PubMed]
23. The HBS1L-MYB intergenic region on chromosome 6q23 is a quantitative trait locus controlling fetal haemoglobin level in carriers of beta-thalassaemia. [PubMed]

Infectious Diseases
24. A crucial role of macrophages in the immune responses to oral DNA vaccination against hepatitis B virus in a murine model. [PubMed]
25. Antibiotics modulate vaccine-induced humoral immune response. [PubMed]
26. Ciprofloxacin decreased polyoma BK virus load in patients who underwent allogeneic hematopoietic stem cell transplantation. [PubMed]
27. Comparison of two automated DNA amplification systems with a manual one-tube nested PCR assay for diagnosis of pulmonary tuberculosis. [PubMed]
28. DNA immunization using a secreted cell wall antigen Mp1p is protective against Penicillium marneffei infection. [PubMed]
29. Enhancement by ampicillin of antibody responses induced by a protein antigen and a DNA vaccine carried by live-attenuated Salmonella enterica serovar Typhi. [PubMed]
30. Kocuria kristinae infection associated with acute cholecystitis. [PubMed]
31. Plasma Epstein-Barr virus (EBV) DNA: role as a screening test for nasopharyngeal carcinoma (NPC)?[PubMed]
32. Rapid quantification of hepatitis B virus DNA by real-time PCR using fluorescent hybridization probes. [PubMed]
33. Role of lopinavir/ritonavir in the treatment of SARS: initial virological and clinical findings. [PubMed]
34. SARS coronavirus spike polypeptide DNA vaccine priming with recombinant spike polypeptide from Escherichia coli as booster induces high titer of neutralizing antibody against SARS coronavirus.[PubMed]
35. Three cases of severe invasive infections caused by Campylobacter rectus and first report of fatal C. rectus infection. [PubMed]
36. Unique immunogenicity of hepatitis B virus DNA vaccine presented by live-attenuated Salmonella typhimurium. [PubMed]