Manop Pithukpakorn

Summary

Affiliation: Mahidol University
Location: Bangkok, Thailand

Publications

  1. pmc Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer
    M H Wei
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20892, USA
    J Med Genet 43:18-27. 2006
  2. ncbi request reprint Can we predict final outcome of internal medicine residents with in-training evaluation
    Nitipatana Chierakul
    Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
    J Med Assoc Thai 94:S246-9. 2011
  3. ncbi request reprint Genetic polymorphism of low-density lipoprotein receptor did not affect treatment outcome of chronic hepatitis C genotype 3
    Tawesak Tanwandee
    Division of Gastroenterology, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Bangkok, Thailand
    J Med Assoc Thai 94:S147-53. 2011
  4. doi request reprint Six novel ATP7B mutations in Thai patients with Wilson disease
    Benjaporn Panichareon
    Department of Anatomy, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand
    Eur J Med Genet 54:103-7. 2011
  5. doi request reprint A 47, XXY patient and Xq21.31 duplication with features of Prader-Willi syndrome: results of array-based comparative genomic hybridization
    Pornpoj Pramyothin
    Department of Medicine, John A Burns School of Medicine, University of Hawaii, 677 Ala Moana Boulevard, 1024, Honolulu, HI 96813, USA
    Endocrine 37:379-82. 2010
  6. ncbi request reprint Clinical presentation and echocardiographic findings of Thai patients with Marfan syndrome
    Manop Pithukpakorn
    Division of Medical Genetics, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand
    J Med Assoc Thai 93:S43-7. 2010
  7. ncbi request reprint Autoinflammatory diseases: clinical and dermatologic features, genetics, pathogenesis and therapy
    Manop Pithukpakorn
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA
    Adv Dermatol 22:67-90. 2006
  8. pmc Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer
    M Pithukpakorn
    J Med Genet 43:755-62. 2006
  9. ncbi request reprint Disorders of pyruvate metabolism and the tricarboxylic acid cycle
    Manop Pithukpakorn
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Mol Genet Metab 85:243-6. 2005
  10. ncbi request reprint Unusual presentation as an adult onset painful myopathy in a Thai patient with Becker muscular dystrophy
    Manop Pithukpakorn
    Division of Medical Genetics, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand
    J Med Assoc Thai 94:S250-2. 2011

Collaborators

Detail Information

Publications11

  1. pmc Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer
    M H Wei
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20892, USA
    J Med Genet 43:18-27. 2006
    ..Here we characterise the clinical and genetic features of 21 new families and present the first report of two African-American families with HLRCC...
  2. ncbi request reprint Can we predict final outcome of internal medicine residents with in-training evaluation
    Nitipatana Chierakul
    Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
    J Med Assoc Thai 94:S246-9. 2011
    ..To assess the predictive value of in-training evaluation for determining future success in the internal medicine board certifying examination...
  3. ncbi request reprint Genetic polymorphism of low-density lipoprotein receptor did not affect treatment outcome of chronic hepatitis C genotype 3
    Tawesak Tanwandee
    Division of Gastroenterology, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Bangkok, Thailand
    J Med Assoc Thai 94:S147-53. 2011
    ..This study was conducted to evaluate the association of LDL-R gene polymorphism and the response to antiviral treatment in patients with chronic HCV infection...
  4. doi request reprint Six novel ATP7B mutations in Thai patients with Wilson disease
    Benjaporn Panichareon
    Department of Anatomy, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand
    Eur J Med Genet 54:103-7. 2011
    ..Mutations in ATP7B in Thai patients with WD are worth adding into the public database for genetic epidemiology and population genetics...
  5. doi request reprint A 47, XXY patient and Xq21.31 duplication with features of Prader-Willi syndrome: results of array-based comparative genomic hybridization
    Pornpoj Pramyothin
    Department of Medicine, John A Burns School of Medicine, University of Hawaii, 677 Ala Moana Boulevard, 1024, Honolulu, HI 96813, USA
    Endocrine 37:379-82. 2010
    ..31 in addition to his abnormal karyotype. This duplication was also found in his mother who appeared normal. We raise the possibility that the phenotype in this patient is a combination of both extra X chromosome and Xq21 duplication...
  6. ncbi request reprint Clinical presentation and echocardiographic findings of Thai patients with Marfan syndrome
    Manop Pithukpakorn
    Division of Medical Genetics, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand
    J Med Assoc Thai 93:S43-7. 2010
    ..Though several articles had been published, no data from Thai individuals has ever been reported. Here we presented clinical manifestations and echocardiographic findings of Thai patients with Marfan syndrome...
  7. ncbi request reprint Autoinflammatory diseases: clinical and dermatologic features, genetics, pathogenesis and therapy
    Manop Pithukpakorn
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA
    Adv Dermatol 22:67-90. 2006
  8. pmc Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer
    M Pithukpakorn
    J Med Genet 43:755-62. 2006
    ..Hereditary leiomyomatosis and renal cell cancer (HLRCC) is the autosomal dominant heritable syndrome with predisposition to development of renal cell carcinoma and smooth muscle tumours of the skin and uterus...
  9. ncbi request reprint Disorders of pyruvate metabolism and the tricarboxylic acid cycle
    Manop Pithukpakorn
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Mol Genet Metab 85:243-6. 2005
  10. ncbi request reprint Unusual presentation as an adult onset painful myopathy in a Thai patient with Becker muscular dystrophy
    Manop Pithukpakorn
    Division of Medical Genetics, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand
    J Med Assoc Thai 94:S250-2. 2011
    ..Diagnosis of Becker muscular dystrophy (BMD) was confirmed by genetic testing. His symptoms responded well to steroid treatment. This report is of the first Thai patient with atypical presentation of BMD...