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Items: 19


Derivation of an induced pluripotent stem cell line (MUSIi004-A) from dermal fibroblasts of a 48-year-old spinocerebellar ataxia type 3 patient.

Ritthaphai A, Wattanapanitch M, Pithukpakorn M, Heepchantree W, Soi-Ampornkul R, Mahaisavariya P, Triwongwaranat D, Pattanapanyasat K, Vatanashevanopakorn C.

Stem Cell Res. 2018 Jul;30:113-116. doi: 10.1016/j.scr.2018.05.012. Epub 2018 May 21.


Molecular investigation by whole exome sequencing revealed a high proportion of pathogenic variants among Thai victims of sudden unexpected death syndrome.

Suktitipat B, Sathirareuangchai S, Roothumnong E, Thongnoppakhun W, Wangkiratikant P, Vorasan N, Krittayaphong R, Pithukpakorn M, Boonyapisit W.

PLoS One. 2017 Jul 13;12(7):e0180056. doi: 10.1371/journal.pone.0180056. eCollection 2017.


Factors associated with acquired Anti IFN- γ autoantibody in patients with nontuberculous mycobacterial infection.

Phoompoung P, Ankasekwinai N, Pithukpakorn M, Foongladda S, Umrod P, Suktitipat B, Mahasirimongkol S, Kiertiburanakul S, Suputtamongkol Y.

PLoS One. 2017 Apr 24;12(4):e0176342. doi: 10.1371/journal.pone.0176342. eCollection 2017.


Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita.

Panichareon B, Seedapan T, Thongnoppakhun W, Limwongse C, Pithukpakorn M, Limjindaporn T.

Case Rep Dermatol. 2015 Aug 12;7(2):212-9. doi: 10.1159/000439042. eCollection 2015 May-Aug.


Hereditary Leiomyomatosis and Renal Cell Cancer.

Pithukpakorn M, Toro JR.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2006 Jul 31 [updated 2015 Aug 6].


HLA-DRB1 and HLA-DQB1 Are Associated with Adult-Onset Immunodeficiency with Acquired Anti-Interferon-Gamma Autoantibodies.

Pithukpakorn M, Roothumnong E, Angkasekwinai N, Suktitipat B, Assawamakin A, Luangwedchakarn V, Umrod P, Thongnoppakhun W, Foongladda S, Suputtamongkol Y.

PLoS One. 2015 May 26;10(5):e0128481. doi: 10.1371/journal.pone.0128481. eCollection 2015.


Mycophenolic acid AUC in Thai kidney transplant recipients receiving low dose mycophenolate and its association with UGT2B7 polymorphisms.

Pithukpakorn M, Tiwawanwong T, Lalerd Y, Assawamakin A, Premasathian N, Tasanarong A, Thongnoppakhun W, Vongwiwatana A.

Pharmgenomics Pers Med. 2014 Dec 5;7:379-85. doi: 10.2147/PGPM.S72760. eCollection 2014.


A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation.

Tanboon J, Rongsa K, Pithukpakorn M, Boonyapisit K, Limwongse C, Sangruchi T.

Case Rep Neurol. 2014 Mar 8;6(1):55-9. doi: 10.1159/000360730. eCollection 2014 Jan.


Can we predict final outcome of internal medicine residents with in-training evaluation.

Chierakul N, Pongprasobchai S, Boonyapisit K, Chinthammitr Y, Pithukpakorn M, Maneesai A, Srivijitkamol A, Koomanachai P, Koolvisoot A, Tanwandee T, Shayakul C, Kachintorn U.

J Med Assoc Thai. 2011 Feb;94 Suppl 1:S246-9.


Genetic polymorphism of low-density lipoprotein receptor did not affect treatment outcome of chronic hepatitis C genotype 3.

Tanwandee T, Pithukpakorn M, Vipatakul N, Charatcharoenwitthaya P, Chainuvati S, Nimanong S, Prachayakul V, Pongprasobchai S, Manatsathit S, Leelakusolvong S, Pausawasdi N, Kachintorn U, Limwongse C, Udompunturak S.

J Med Assoc Thai. 2011 Feb;94 Suppl 1:S147-53.


Six novel ATP7B mutations in Thai patients with Wilson disease.

Panichareon B, Taweechue K, Thongnoppakhun W, Aksornworanart M, Pithukpakorn M, Yenchitsomanus PT, Limwongse C, Limjindaporn T.

Eur J Med Genet. 2011 Mar-Apr;54(2):103-7. doi: 10.1016/j.ejmg.2010.10.008. Epub 2010 Oct 27.


A 47, XXY patient and Xq21.31 duplication with features of Prader-Willi syndrome: results of array-based comparative genomic hybridization.

Pramyothin P, Pithukpakorn M, Arakaki RF.

Endocrine. 2010 Jun;37(3):379-82. doi: 10.1007/s12020-010-9330-8. Epub 2010 Apr 9.


Clinical presentation and echocardiographic findings of Thai patients with Marfan syndrome.

Pithukpakorn M, Chaowalit N.

J Med Assoc Thai. 2010 Jan;93 Suppl 1:S43-7.


Autoinflammatory diseases: clinical and dermatologic features, genetics, pathogenesis and therapy.

Pithukpakorn M, Aksentijevich I, Toro JR.

Adv Dermatol. 2006;22:67-90. Review. No abstract available.


Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer.

Pithukpakorn M, Wei MH, Toure O, Steinbach PJ, Glenn GM, Zbar B, Linehan WM, Toro JR.

J Med Genet. 2006 Sep;43(9):755-62. Epub 2006 Apr 5.


Disorders of pyruvate metabolism and the tricarboxylic acid cycle.

Pithukpakorn M.

Mol Genet Metab. 2005 Aug;85(4):243-6. Review. No abstract available.


Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.

Wei MH, Toure O, Glenn GM, Pithukpakorn M, Neckers L, Stolle C, Choyke P, Grubb R, Middelton L, Turner ML, Walther MM, Merino MJ, Zbar B, Linehan WM, Toro JR.

J Med Genet. 2006 Jan;43(1):18-27. Epub 2005 Jun 3.

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