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Items: 1 to 50 of 182

1.

Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions.

Ittiwut C, Manuyakorn W, Tongkobpetch S, Benjaponpitak S, Fisher MR, Milner JD, Lyons JJ, Suphapeetiporn K, Shotelersuk V.

J Clin Immunol. 2019 Nov 9. doi: 10.1007/s10875-019-00693-6. [Epub ahead of print] No abstract available.

PMID:
31707513
2.

Trinucleotide repeat expansion in the transcription factor 4 (TCF4) gene in Thai patients with Fuchs endothelial corneal dystrophy.

Okumura N, Puangsricharern V, Jindasak R, Koizumi N, Komori Y, Ryousuke H, Nakahara M, Nakano M, Adachi H, Tashiro K, Yoshii K, Chantaren P, Ittiwut R, Shotelersuk V, Suphapeetiporn K.

Eye (Lond). 2019 Sep 25. doi: 10.1038/s41433-019-0595-8. [Epub ahead of print]

PMID:
31554942
3.

TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4.

Yeetong P, Pongpanich M, Srichomthong C, Assawapitaksakul A, Shotelersuk V, Tantirukdham N, Chunharas C, Suphapeetiporn K, Shotelersuk V.

Brain. 2019 Nov 1;142(11):3360-3366. doi: 10.1093/brain/awz267.

PMID:
31539032
4.

A Novel GNAS Mutation Causing Isolated Infantile Cushing's Syndrome.

Dejkhamron P, Ittiwut C, TangNgam H, Sunkonkit K, Natesirinilkul R, Suphapeetiporn K, Shotelersuk V.

Horm Res Paediatr. 2019 Jul 30:1-7. doi: 10.1159/000501169. [Epub ahead of print]

PMID:
31362300
5.

Discrepancy in the degree of polycythemia in a family with a novel nonsense EPOR mutation.

Ratarat C, Ittiwut C, Natesirinilkul R, Sathitsamitpong L, Fanhchaksai K, Charoenkwan P, Suphapeetiporn K, Shotelersuk V.

Int J Hematol. 2019 Nov;110(5):640-641. doi: 10.1007/s12185-019-02713-y. Epub 2019 Jul 26. No abstract available.

PMID:
31347091
6.

Generation of two human iPSC lines (MDCUi001-A and MDCUi001-B) from dermal fibroblasts of a Thai patient with X-linked osteogenesis imperfecta using integration-free Sendai virus.

Tongkobpetch S, Rungsiwiwut R, Pruksananonda K, Suphapeetiporn K, Shotelersuk V.

Stem Cell Res. 2019 Aug;39:101493. doi: 10.1016/j.scr.2019.101493. Epub 2019 Jun 29.

7.

Carnitine palmitoyl transferase 1A deficiency in an adult with recurrent severe steato hepatitis aggravated by high pathologic or physiologic demands: A roller-coaster for internists.

Phowthongkum P, Suphapeetiporn K, Shotelersuk V.

Clin Mol Hepatol. 2019 Jun 24. doi: 10.3350/cmh.2018.0114. [Epub ahead of print] No abstract available.

8.

A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly.

Budsamongkol T, Intarak N, Theerapanon T, Yodsanga S, Porntaveetus T, Shotelersuk V.

Genes Dis. 2019 Mar 16;6(2):138-146. doi: 10.1016/j.gendis.2019.03.001. eCollection 2019 Jun.

9.

A novel de novo mutation substantiates KDF1 as a gene causing ectodermal dysplasia.

Manaspon C, Thaweesapphithak S, Osathanon T, Suphapeetiporn K, Porntaveetus T, Shotelersuk V.

Br J Dermatol. 2019 Aug;181(2):419-420. doi: 10.1111/bjd.18007. Epub 2019 May 14. No abstract available.

PMID:
30977908
10.

Precision medicine in Thailand.

Shotelersuk V, Tongsima S, Pithukpakorn M, Eu-Ahsunthornwattana J, Mahasirimongkol S.

Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):245-253. doi: 10.1002/ajmg.c.31694. Epub 2019 Mar 19.

PMID:
30888117
11.

Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders.

Intarak N, Theerapanon T, Thaweesapphithak S, Suphapeetiporn K, Porntaveetus T, Shotelersuk V.

Mol Genet Genomics. 2019 Jun;294(3):773-787. doi: 10.1007/s00438-019-01547-x. Epub 2019 Mar 18.

PMID:
30887145
12.

Female-restricted syndromic intellectual disability in a patient from Thailand.

Sinthuwiwat T, Ittiwut C, Porntaveetus T, Shotelersuk V.

Am J Med Genet A. 2019 May;179(5):758-761. doi: 10.1002/ajmg.a.61106. Epub 2019 Mar 3.

PMID:
30828969
13.

Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities.

Kuptanon C, Srichomthong C, Ittiwut C, Wechapinan T, Sri-Udomkajorn S, Iamopas O, Phokaew C, Suphapeetiporn K, Shotelersuk V.

Gene. 2019 May 15;696:21-27. doi: 10.1016/j.gene.2019.01.049. Epub 2019 Feb 14.

PMID:
30771478
14.

Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita.

Suthiworachai C, Tammachote R, Srichomthong C, Ittiwut R, Suphapeetiporn K, Sahakitrungruang T, Shotelersuk V.

J Endocr Soc. 2018 Dec 12;3(1):171-180. doi: 10.1210/js.2018-00270. eCollection 2019 Jan 1.

15.

Cornelia de Lange syndrome in diverse populations.

Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, Badoe E, Thong MK, Leon E, Girisha KM, Shukla A, Nayak SS, Shotelersuk V, Megarbane A, Phadke S, Sirisena ND, Dissanayake VHW, Ferreira CR, Kisling MS, Tanpaiboon P, Uwineza A, Mutesa L, Tekendo-Ngongang C, Wonkam A, Fieggen K, Batista LC, Moretti-Ferreira D, Stevenson RE, Prijoles EJ, Everman D, Clarkson K, Worthington J, Kimonis V, Hisama F, Crowe C, Wong P, Johnson K, Clark RD, Bird L, Masser-Frye D, McDonald M, Willems P, Roeder E, Saitta S, Anyane-Yeoba K, Demmer L, Hamajima N, Stark Z, Gillies G, Hudgins L, Dave U, Shalev S, Siu V, Ades A, Dubbs H, Raible S, Kaur M, Salzano E, Jackson L, Deardorff M, Kline A, Summar M, Muenke M, Linguraru MG, Krantz ID.

Am J Med Genet A. 2019 Feb;179(2):150-158. doi: 10.1002/ajmg.a.61033. Epub 2019 Jan 6.

PMID:
30614194
16.

Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development.

Konjikusic MJ, Yeetong P, Boswell CW, Lee C, Roberson EC, Ittiwut R, Suphapeetiporn K, Ciruna B, Gurnett CA, Wallingford JB, Shotelersuk V, Gray RS.

PLoS Genet. 2018 Nov 26;14(11):e1007817. doi: 10.1371/journal.pgen.1007817. eCollection 2018 Nov.

17.

Human asparagine synthetase associates with the mitotic spindle.

Noree C, Monfort E, Shotelersuk V.

Biol Open. 2018 Dec 14;7(12). pii: bio038307. doi: 10.1242/bio.038307.

18.

The phenotypic and mutational spectrum of Thai female patients with ornithine transcarbamylase deficiency.

Chongsrisawat V, Damrongphol P, Ittiwut C, Ittiwut R, Suphapeetiporn K, Shotelersuk V.

Gene. 2018 Dec 30;679:377-381. doi: 10.1016/j.gene.2018.09.026. Epub 2018 Sep 14.

PMID:
30223008
19.

Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia.

Ittiwut C, Natesirinilkul R, Tongprasert F, Sathitsamitphong L, Choed-Amphai C, Fanhchaksai K, Charoenkwan P, Suphapeetiporn K, Shotelersuk V.

Br J Haematol. 2019 May;185(3):578-582. doi: 10.1111/bjh.15559. Epub 2018 Sep 10. No abstract available.

PMID:
30198572
20.

rs11567842 SNP in SLC13A2 gene associates with hypocitraturia in Thai patients with nephrolithiasis.

Udomsilp P, Saepoo S, Ittiwut R, Shotelersuk V, Dissayabutra T, Boonla C, Tosukhowong P.

Genes Genomics. 2018 Sep;40(9):965-972. doi: 10.1007/s13258-018-0702-4. Epub 2018 May 17.

PMID:
30155711
21.

Cole-Carpenter syndrome in a patient from Thailand.

Porntaveetus T, Theerapanon T, Srichomthong C, Shotelersuk V.

Am J Med Genet A. 2018 Aug;176(8):1706-1710. doi: 10.1002/ajmg.a.40358. Epub 2018 Jul 31.

PMID:
30063094
22.

The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report.

Kuptanon C, Srichomthong C, Sangsin A, Kovitvanitcha D, Suphapeetiporn K, Shotelersuk V.

BMC Med Genet. 2018 Jul 16;19(1):117. doi: 10.1186/s12881-018-0639-0.

23.

Amelogenesis imperfecta: A novel FAM83H mutation and characteristics of periodontal ligament cells.

Nowwarote N, Theerapanon T, Osathanon T, Pavasant P, Porntaveetus T, Shotelersuk V.

Oral Dis. 2018 Nov;24(8):1522-1531. doi: 10.1111/odi.12926. Epub 2018 Jul 18.

PMID:
29949226
24.

Erratum: Missing Sentence and Word.

Wejjakul W, Chatmaitri S, Wattanarojanaporn T, Pongkunakorn A, Ittiwut C, Shotelersuk V.

J Orthop Case Rep. 2018 Jan-Feb;8(1):97. doi: 10.13107/jocr.2250-0685.1018.

25.

Age-Related Reference Intervals for Blood Amino Acids in Thai Pediatric Population Measured by Liquid Chromatography Tandem Mass Spectrometry.

Uaariyapanichkul J, Chomtho S, Suphapeetiporn K, Shotelersuk V, Punnahitananda S, Chinjarernpan P, Suteerojntrakool O.

J Nutr Metab. 2018 May 6;2018:5124035. doi: 10.1155/2018/5124035. eCollection 2018.

26.

Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria.

Yeetong P, Phewplung T, Kamolvisit W, Suphapeetiporn K, Shotelersuk V.

Skeletal Radiol. 2018 Nov;47(11):1577-1582. doi: 10.1007/s00256-018-2963-z. Epub 2018 May 10.

PMID:
29744569
27.

Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs.

Porntaveetus T, Abid MF, Theerapanon T, Srichomthong C, Ohazama A, Kawasaki K, Kawasaki M, Suphapeetiporn K, Sharpe PT, Shotelersuk V.

Int J Biol Sci. 2018 Mar 9;14(4):381-389. doi: 10.7150/ijbs.23517. eCollection 2018.

28.

Williams-Beuren syndrome in diverse populations.

Kruszka P, Porras AR, de Souza DH, Moresco A, Huckstadt V, Gill AD, Boyle AP, Hu T, Addissie YA, Mok GTK, Tekendo-Ngongang C, Fieggen K, Prijoles EJ, Tanpaiboon P, Honey E, Luk HM, Lo IFM, Thong MK, Muthukumarasamy P, Jones KL, Belhassan K, Ouldim K, El Bouchikhi I, Bouguenouch L, Shukla A, Girisha KM, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Kisling MS, Ferreira CR, de Herreros MB, Lee NC, Jamuar SS, Lai A, Tan ES, Ying Lim J, Wen-Min CB, Gupta N, Lotz-Esquivel S, Badilla-Porras R, Hussen DF, El Ruby MO, Ashaat EA, Patil SJ, Dowsett L, Eaton A, Innes AM, Shotelersuk V, Badoe Ë, Wonkam A, Obregon MG, Chung BHY, Trubnykova M, La Serna J, Gallardo Jugo BE, Chávez Pastor M, Abarca Barriga HH, Megarbane A, Kozel BA, van Haelst MM, Stevenson RE, Summar M, Adeyemo AA, Morris CA, Moretti-Ferreira D, Linguraru MG, Muenke M.

Am J Med Genet A. 2018 May;176(5):1128-1136. doi: 10.1002/ajmg.a.38672.

29.

Compromised alveolar bone cells in a patient with dentinogenesis imperfecta caused by DSPP mutation.

Porntaveetus T, Nowwarote N, Osathanon T, Theerapanon T, Pavasant P, Boonprakong L, Sanon K, Srisawasdi S, Suphapeetiporn K, Shotelersuk V.

Clin Oral Investig. 2019 Jan;23(1):303-313. doi: 10.1007/s00784-018-2437-7. Epub 2018 Apr 20.

PMID:
29679229
30.

Novel compound heterozygous mutations in KREMEN1 confirm it as a disease gene for ectodermal dysplasia.

Intarak N, Theerapanon T, Srijunbarl A, Suphapeetiporn K, Porntaveetus T, Shotelersuk V.

Br J Dermatol. 2018 Sep;179(3):758-760. doi: 10.1111/bjd.16541. Epub 2018 Jun 13. No abstract available.

PMID:
29526031
31.

Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review.

Wejjakul W, Chatmaitri S, Wattanarojanaporn T, Pongkunakorn A, Ittiwut C, Shotelersuk V.

J Orthop Case Rep. 2017 Sep-Oct;7(5):54-58. doi: 10.13107/jocr.2250-0685.894. Erratum in: J Orthop Case Rep. 2018 Jan-Feb;8(1):97.

32.
33.

A novel PITX2 mutation in non-syndromic orodental anomalies.

Intarak N, Theerapanon T, Ittiwut C, Suphapeetiporn K, Porntaveetus T, Shotelersuk V.

Oral Dis. 2018 May;24(4):611-618. doi: 10.1111/odi.12804. Epub 2018 Mar 13.

PMID:
29121437
34.

Dental properties, ultrastructure, and pulp cells associated with a novel DSPP mutation.

Porntaveetus T, Osathanon T, Nowwarote N, Pavasant P, Srichomthong C, Suphapeetiporn K, Shotelersuk V.

Oral Dis. 2018 May;24(4):619-627. doi: 10.1111/odi.12801. Epub 2018 Mar 13.

PMID:
29117466
35.

A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents.

Tongkobpetch S, Limpaphayom N, Sangsin A, Porntaveetus T, Suphapeetiporn K, Shotelersuk V.

Genet Mol Biol. 2017 Oct-Dec;40(4):763-767. doi: 10.1590/1678-4685-GMB-2016-0033. Epub 2017 Sep 21.

36.

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.

Chaiyasap P, Ittiwut C, Srichomthong C, Sangsin A, Suphapeetiporn K, Shotelersuk V.

BMC Med Genet. 2017 Sep 16;18(1):102. doi: 10.1186/s12881-017-0464-x.

37.

Novel mutations in Thai patients with glanzmann thrombasthenia.

Ittiwut R, Suchartlikitwong P, Kittikalayawong Y, Ittiwut C, Prasopsanti K, Sosothikul D, Shotelersuk V, Suphapeetiporn K.

Eur J Haematol. 2017 Dec;99(6):520-524. doi: 10.1111/ejh.12965. Epub 2017 Oct 5.

PMID:
28888044
38.

Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia.

Porntaveetus T, Srichomthong C, Suphapeetiporn K, Shotelersuk V.

Am J Med Genet A. 2017 Oct;173(10):2747-2752. doi: 10.1002/ajmg.a.38370. Epub 2017 Aug 1.

PMID:
28763161
39.

Noonan syndrome in diverse populations.

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.

Am J Med Genet A. 2017 Sep;173(9):2323-2334. doi: 10.1002/ajmg.a.38362. Epub 2017 Jul 27.

40.

Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene.

Yeetong P, Suphapeetiporn K, Shotelersuk V.

World J Pediatr. 2017 Aug;13(4):392-394. doi: 10.1007/s12519-017-0037-2. No abstract available.

PMID:
28484936
41.

22q11.2 deletion syndrome in diverse populations.

Kruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M, Crowley TB, Chung BH, Mok GT, Mak CC, Muthukumarasamy P, Thong MK, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Mishra R, Shotelersuk V, Ekure EN, Sokunbi OJ, Kalu N, Ferreira CR, Duncan JM, Patil SJ, Jones KL, Kaplan JD, Abdul-Rahman OA, Uwineza A, Mutesa L, Moresco A, Obregon MG, Richieri-Costa A, Gil-da-Silva-Lopes VL, Adeyemo AA, Summar M, Zackai EH, McDonald-McGinn DM, Linguraru MG, Muenke M.

Am J Med Genet A. 2017 Apr;173(4):879-888. doi: 10.1002/ajmg.a.38199.

42.

A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel.

Porntaveetus T, Srichomthong C, Ohazama A, Suphapeetiporn K, Shotelersuk V.

Oral Dis. 2017 Sep;23(6):795-800. doi: 10.1111/odi.12663. Epub 2017 Apr 3.

PMID:
28258662
43.

Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report.

Sangsin A, Kuptanon C, Srichomthong C, Pongpanich M, Suphapeetiporn K, Shotelersuk V.

BMC Med Genet. 2017 Mar 4;18(1):25. doi: 10.1186/s12881-017-0384-9.

44.

Down syndrome in diverse populations.

Kruszka P, Porras AR, Sobering AK, Ikolo FA, La Qua S, Shotelersuk V, Chung BH, Mok GT, Uwineza A, Mutesa L, Moresco A, Obregon MG, Sokunbi OJ, Kalu N, Joseph DA, Ikebudu D, Ugwu CE, Okoromah CA, Addissie YA, Pardo KL, Brough JJ, Lee NC, Girisha KM, Patil SJ, Ng IS, Min BC, Jamuar SS, Tibrewal S, Wallang B, Ganesh S, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Richieri-Costa A, Muthukumarasamy P, Thong MK, Jones KL, Abdul-Rahman OA, Ekure EN, Adeyemo AA, Summar M, Linguraru MG, Muenke M.

Am J Med Genet A. 2017 Jan;173(1):42-53. doi: 10.1002/ajmg.a.38043.

PMID:
27991738
45.
46.

Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development.

Ittiwut C, Pratuangdejkul J, Supornsilchai V, Muensri S, Hiranras Y, Sahakitrungruang T, Watcharasindhu S, Suphapeetiporn K, Shotelersuk V.

J Pediatr Endocrinol Metab. 2017 Jan 1;30(1):19-26. doi: 10.1515/jpem-2016-0048.

PMID:
27849622
47.

Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI.

Ittiwut C, Boonbuamas S, Srichomthong C, Ittiwut R, Suphapeetiporn K, Shotelersuk V.

Genet Test Mol Biomarkers. 2017 Jan;21(1):58-62. doi: 10.1089/gtmb.2016.0221. Epub 2016 Oct 31.

PMID:
27797586
48.

Novel mutations in the FUCA1 gene that cause fucosidosis.

Panmontha W, Amarinthnukrowh P, Damrongphol P, Desudchit T, Suphapeetiporn K, Shotelersuk V.

Genet Mol Res. 2016 Sep 16;15(3). doi: 10.4238/gmr.15038733.

PMID:
27706744
49.

PREVALENCE AND PREDICTORS OF BACTEREMIA AMONG CHILDREN HOSPITALIZED WITH PNEUMONIA.

Senavonge A, Hantragool S, Shotelersuk V.

Southeast Asian J Trop Med Public Health. 2016 Sep;47(5):994-1000.

PMID:
29620806
50.

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

Lindert U, Cabral WA, Ausavarat S, Tongkobpetch S, Ludin K, Barnes AM, Yeetong P, Weis M, Krabichler B, Srichomthong C, Makareeva EN, Janecke AR, Leikin S, Röthlisberger B, Rohrbach M, Kennerknecht I, Eyre DR, Suphapeetiporn K, Giunta C, Marini JC, Shotelersuk V.

Nat Commun. 2016 Jul 6;7:11920. doi: 10.1038/ncomms11920.

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