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Tanpaiboon, Pranoot

TitleAssistant Professor
InstitutionChildrens National Medical Center
DepartmentGenetics and Metabolism
Address111 Michigan Ave NW
Washington DC 20010
Phone(202) 4762623
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    Collapse Bibliographic 
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Tanpaiboon P, Chapman KA. Response to Hartley et al. and Mullegama et al. Genet Med. 2017 Sep 21. PMID: 28933791.
      View in: PubMed
    2. Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, Leung GKC, Tekendo-Ngongang C, Uwineza A, Thong MK, Muthukumarasamy P, Honey E, Ekure EN, Sokunbi OJ, Kalu N, Jones KL, Kaplan JD, Abdul-Rahman OA, Vincent LM, Love A, Belhassan K, Ouldim K, El Bouchikhi I, Shukla A, Girisha KM, Patil SJ, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Klein-Zighelboim E, Gallardo Jugo BE, Chávez Pastor M, Abarca-Barriga HH, Skinner SA, Prijoles EJ, Badoe E, Gill AD, Shotelersuk V, Smpokou P, Kisling MS, Ferreira CR, Mutesa L, Megarbane A, Kline AD, Kimball A, Okello E, Lwabi P, Aliku T, Tenywa E, Boonchooduang N, Tanpaiboon P, Richieri-Costa A, Wonkam A, Chung BHY, Stevenson RE, Summar M, Mandal K, Phadke SR, Obregon MG, Linguraru MG, Muenke M. Cover Image, Volume 173A, Number 9, September 2017. Am J Med Genet A. 2017 Sep; 173(9):i. PMID: 28816424.
      View in: PubMed
    3. Kazi ZB, Desai AK, Berrier KL, Troxler RB, Wang RY, Abdul-Rahman OA, Tanpaiboon P, Mendelsohn NJ, Herskovitz E, Kronn D, Inbar-Feigenberg M, Ward-Melver C, Polan M, Gupta P, Rosenberg AS, Kishnani PS. Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease. JCI Insight. 2017 Aug 17; 2(16). PMID: 28814660.
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    4. Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, Leung GKC, Tekendo-Ngongang C, Uwineza A, Thong MK, Muthukumarasamy P, Honey E, Ekure EN, Sokunbi OJ, Kalu N, Jones KL, Kaplan JD, Abdul-Rahman OA, Vincent LM, Love A, Belhassan K, Ouldim K, El Bouchikhi I, Shukla A, Girisha KM, Patil SJ, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Klein-Zighelboim E, Gallardo Jugo BE, Chávez Pastor M, Abarca-Barriga HH, Skinner SA, Prijoles EJ, Badoe E, Gill AD, Shotelersuk V, Smpokou P, Kisling MS, Ferreira CR, Mutesa L, Megarbane A, Kline AD, Kimball A, Okello E, Lwabi P, Aliku T, Tenywa E, Boonchooduang N, Tanpaiboon P, Richieri-Costa A, Wonkam A, Chung BHY, Stevenson RE, Summar M, Mandal K, Phadke SR, Obregon MG, Linguraru MG, Muenke M. Noonan syndrome in diverse populations. Am J Med Genet A. 2017 Sep; 173(9):2323-2334. PMID: 28748642.
      View in: PubMed
    5. Kruszka P, Tanpaiboon P, Neas K, Crosby K, Berger SI, Martinez AF, Addissie YA, Pongprot Y, Sittiwangkul R, Silvilairat S, Makonkawkeyoon K, Yu L, Wynn J, Bennett JT, Mefford HC, Reynolds WT, Liu X, Mommersteeg MTM, Chung WK, Lo CW, Muenke M. Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects. J Med Genet. 2017 Jun 07. PMID: 28592524.
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    6. Weinstein V, Tanpaiboon P, Chapman KA, Ah Mew N, Hofherr S. Do the data really support ordering fragile X testing as a first-tier test without clinical features? Genet Med. 2017 May 25. PMID: 28541279.
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    7. Dworski S, Lu P, Khan A, Maranda B, Mitchell JJ, Parini R, Di Rocco M, Hugle B, Yoshimitsu M, Magnusson B, Makay B, Arslan N, Guelbert N, Ehlert K, Jarisch A, Gardner-Medwin J, Dagher R, Terreri MT, Lorenco CM, Barillas-Arias L, Tanpaiboon P, Solyom A, Norris JS, He X, Schuchman EH, Levade T, Medin JA. Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy. Biochim Biophys Acta. 2017 Feb; 1863(2):386-394. PMID: 27915031.
      View in: PubMed
    8. Regier DS, Tanpaiboon P. Role of elosulfase alfa in mucopolysaccharidosis IVA. Appl Clin Genet. 2016; 9:67-74. PMID: 27366102; PMCID: PMC4913537.
    9. Dejkhamron P, Wejapikul K, Unachak K, Sawangareetrakul P, Tanpaiboon P, Wattanasirichaigoon D. Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis. J Pediatr Endocrinol Metab. 2016 Mar; 29(3):373-8. PMID: 26581066.
      View in: PubMed
    10. Kishnani PS, Dickson PI, Muldowney L, Lee JJ, Rosenberg A, Abichandani R, Bluestone JA, Burton BK, Dewey M, Freitas A, Gavin D, Griebel D, Hogan M, Holland S, Tanpaiboon P, Turka LA, Utz JJ, Wang YM, Whitley CB, Kazi ZB, Pariser AR. Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction. Mol Genet Metab. 2016 Feb; 117(2):66-83. PMID: 26597321.
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    11. Chien YH, van der Ploeg A, Jones S, Byrne B, Vellodi A, Leslie N, Mengel E, Shankar SP, Tanpaiboon P, Stockton DW, Hennermann JB, Devecseri Z, Kempf J, Keutzer J, Kishnani P. Survival and Developmental Milestones Among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy. J Neuromuscul Dis. 2015; 2(s1):S61-S62. PMID: 27858651.
      View in: PubMed
    12. Kantaputra PN, Kayserili H, Guven Y, Kantaputra W, Balci MC, Tanpaiboon P, Tananuvat N, Uttarilli A, Dalal A. Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations. Am J Med Genet A. 2014 Jun; 164A(6):1443-53. PMID: 24677745.
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    13. Lachman RS, Burton BK, Clarke LA, Hoffinger S, Ikegawa S, Jin DK, Kano H, Kim OH, Lampe C, Mendelsohn NJ, Shediac R, Tanpaiboon P, White KK. Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose. Skeletal Radiol. 2014 Mar; 43(3):359-69. PMID: 24389823; PMCID: PMC3901942.
    14. Tanpaiboon P, Venditti CP. Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease: Response to letter "Disappearance of congenital noncompaction in hereditary cobalamin-C-deficiency 2.5 years after birth" by J. Finsterer and Claudia Stöllberger, DOI 10.1007/s10545-013-9612-4. J Inherit Metab Dis. 2013 Nov; 36(6):1085. PMID: 23974651; PMCID: PMC3816115.
    15. Kantaputra PN, Kayserili H, Güven Y, Kantaputra W, Balci MC, Tanpaiboon P, Uttarilli A, Dalal A. Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI. J Inherit Metab Dis. 2014 Mar; 37(2):263-8. PMID: 23974652.
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    16. Patel TT, Banugaria SG, Frush DP, Enterline DS, Tanpaiboon P, Kishnani PS. Basilar artery aneurysm: a new finding in classic infantile Pompe disease. Muscle Nerve. 2013 Apr; 47(4):613-5. PMID: 23401069.
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    17. Tanpaiboon P, Sloan JL, Callahan PF, McAreavey D, Hart PS, Lichter-Konecki U, Zand D, Venditti CP. Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease. JIMD Rep. 2013; 10:33-8. PMID: 23430797; PMCID: PMC3755569.
    18. Charoenwattanasatien R, Cairns JR, Keeratichamroen S, Sawangareetrakul P, Tanpaiboon P, Wattanasirichaigoon D, Pangkanon S, Svasti J, Champattanachai V. Decreasing activity and altered protein processing of human iduronate-2-sulfatase mutations demonstrated by expression in COS7 cells. Biochem Genet. 2012 Dec; 50(11-12):990-7. PMID: 22990955.
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    19. Kantaputra P, Tanpaiboon P, Porntaveetus T, Ohazama A, Sharpe P, Rauch A, Hussadaloy A, Thiel CT. The smallest teeth in the world are caused by mutations in the PCNT gene. Am J Med Genet A. 2011 Jun; 155A(6):1398-403. PMID: 21567919.
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    20. Sripathomsawat W, Tanpaiboon P, Heering J, Dötsch V, Hennekam RC, Kantaputra P. Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome. Am J Med Genet A. 2011 Jan; 155A(1):228-32. PMID: 21204238.
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    21. Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, Geiger D, Cetin M, Khayat M, Kleta R, Kfir N, Anikster Y, Chezar J, Arcos-Burgos M, Shalata A, Stanescu H, Manaster J, Arat M, Edwards H, Freiberg AS, Hart PS, Riney LC, Patzel K, Tanpaiboon P, Markello T, Huizing M, Maric I, Horne M, Kehrel BE, Jurk K, Hansen NF, Cherukuri PF, Jones M, Cruz P, Mullikin JC, Nurden A, White JG, Gahl WA, Falik-Zaccai T. Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. Blood. 2010 Dec 02; 116(23):4990-5001. PMID: 20709904; PMCID: PMC3012593.
    22. Tanpaiboon P, Kantaputra P, Wejathikul K, Piyamongkol W. c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient. Am J Med Genet A. 2010 Mar; 152A(3):737-40. PMID: 20186799.
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    23. Tanpaiboon P, Sittiwangkul R, Dejkhamron P, Srikummool M, Sripathomsawat W, Kantaputra P. Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation. Am J Med Genet A. 2009 Aug; 149A(8):1749-53. PMID: 19606477.
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    24. Puthanakit T, Tanpaiboon P, Aurpibul L, Cressey TR, Sirisanthana V. Plasma efavirenz concentrations and the association with CYP2B6-516G >T polymorphism in HIV-infected Thai children. Antivir Ther. 2009; 14(3):315-20. PMID: 19474465.
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    25. Ausavarat S, Tanpaiboon P, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. Two novel EBP mutations in Conradi-Hünermann-Happle syndrome. Eur J Dermatol. 2008 Jul-Aug; 18(4):391-3. PMID: 18573709.
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    26. Keeratichamroen S, Cairns JR, Wattanasirichaigoon D, Wasant P, Ngiwsara L, Suwannarat P, Pangkanon S, Kuptanon J, Tanpaiboon P, Rujirawat T, Liammongkolkul S, Svasti J. Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome. J Inherit Metab Dis. 2008 Dec; 31 Suppl 2:S303-11. PMID: 18500569.
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    27. Unachak K, Tanpaiboon P, Pongprot Y, Sittivangkul R, Silvilairat S, Dejkhamron P, Sudasna J. Thyroid functions in children with Down's syndrome. J Med Assoc Thai. 2008 Jan; 91(1):56-61. PMID: 18386545.
      View in: PubMed
    28. Tanpaiboon P. Methylmalonic acidemia (MMA). Mol Genet Metab. 2005 May; 85(1):2-6. PMID: 15959932.
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    29. Kantaputra PN, Tanpaiboon P. A newly recognized syndrome involving limbs, pelvis, and genital organs or a variant of Al-Awadi/Raas-Rothschild syndrome? Am J Med Genet A. 2005 Jan 01; 132A(1):63-7. PMID: 15558579.
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    30. Kantaputra PN, Tanpaiboon P, Unachak K, Praphanphoj V. Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndrome. Am J Med Genet A. 2004 Oct 01; 130A(2):181-90. PMID: 15372530.
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    31. Kantaputra P, Tanpaiboon P. Thyroid dysfunction in a patient with aglossia. Am J Med Genet A. 2003 Oct 15; 122A(3):274-7. PMID: 12966532.
      View in: PubMed
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