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Items: 1 to 50 of 71

1.

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.

Guo H, Li Y, Shen L, Wang T, Jia X, Liu L, Xu T, Ou M, Hoekzema K, Wu H, Gillentine MA, Liu C, Ni H, Peng P, Zhao R, Zhang Y, Phornphutkul C, Stegmann APA, Prada CE, Hopkin RJ, Shieh JT, McWalter K, Monaghan KG, van Hasselt PM, van Gassen K, Bai T, Long M, Han L, Quan Y, Chen M, Zhang Y, Li K, Zhang Q, Tan J, Zhu T, Liu Y, Pang N, Peng J, Scott DA, Lalani SR, Azamian M, Mancini GMS, Adams DJ, Kvarnung M, Lindstrand A, Nordgren A, Pevsner J, Osei-Owusu IA, Romano C, Calabrese G, Galesi O, Gecz J, Haan E, Ranells J, Racobaldo M, Nordenskjold M, Madan-Khetarpal S, Sebastian J, Ball S, Zou X, Zhao J, Hu Z, Xia F, Liu P, Rosenfeld JA, de Vries BBA, Bernier RA, Xu ZD, Li H, Xie W, Hufnagel RB, Eichler EE, Xia K.

Sci Adv. 2019 Sep 25;5(9):eaax2166. doi: 10.1126/sciadv.aax2166. eCollection 2019 Sep.

2.

Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification.

Kavanaugh BC, Warren EB, Baytas O, Schmidt M, Merck D, Buch K, Liu JS, Phornphutkul C, Caruso P, Morrow EM.

Am J Med Genet A. 2019 Nov;179(11):2284-2291. doi: 10.1002/ajmg.a.61322. Epub 2019 Aug 12.

PMID:
31403263
3.

De novo and biallelic DEAF1 variants cause a phenotypic spectrum.

Nabais Sá MJ, Jensik PJ, McGee SR, Parker MJ, Lahiri N, McNeil EP, Kroes HY, Hagerman RJ, Harrison RE, Montgomery T, Splitt M, Palmer EE, Sachdev RK, Mefford HC, Scott AA, Martinez-Agosto JA, Lorenz R, Orenstein N, Berg JN, Amiel J, Heron D, Keren B, Cobben JM, Menke LA, Marco EJ, Graham JM Jr, Pierson TM, Karimiani EG, Maroofian R, Manzini MC, Cauley ES, Colombo R, Odent S, Dubourg C, Phornphutkul C, de Brouwer APM, de Vries BBA, Vulto-vanSilfhout AT.

Genet Med. 2019 Sep;21(9):2059-2069. doi: 10.1038/s41436-019-0473-6. Epub 2019 Mar 29.

PMID:
30923367
4.

Large Scale Next Generation Sequencing and Newborn Screening: Are We Ready?

Phornphutkul C, Padbury J.

J Pediatr. 2019 Jun;209:9-10. doi: 10.1016/j.jpeds.2019.01.037. Epub 2019 Feb 25. No abstract available.

PMID:
30819502
5.

Application of Whole Exome Sequencing in Congenital Secretory Diarrhea Diagnosis.

Gupta A, Sanville J, Menz T, Warner N, Muise AM, Fiedler K, Martín MG, Padbury J, Phornphutkul C, Sanchez-Esteban J, Cerezo CS.

J Pediatr Gastroenterol Nutr. 2019 Jun;68(6):e106-e108. doi: 10.1097/MPG.0000000000002258. No abstract available.

PMID:
30633106
6.

Relationships between Hoffa fragment size and surgical approach selection: a cadaveric study.

Orapiriyakul W, Apivatthakakul T, Phornphutkul C.

Arch Orthop Trauma Surg. 2018 Dec;138(12):1679-1689. doi: 10.1007/s00402-018-3022-x. Epub 2018 Aug 11.

PMID:
30099576
7.

Acromioclavicular joint dislocation: a Dog Bone button fixation alone versus Dog Bone button fixation augmented with acromioclavicular repair-a finite element analysis study.

Sumanont S, Nopamassiri S, Boonrod A, Apiwatanakul P, Boonrod A, Phornphutkul C.

Eur J Orthop Surg Traumatol. 2018 Aug;28(6):1095-1101. doi: 10.1007/s00590-018-2186-y. Epub 2018 Mar 20.

PMID:
29557509
8.

Posterolateral tibial plateau fractures, how to buttress? Reversed L posteromedial or the posterolateral approach: a comparative cadaveric study.

Orapiriyakul W, Apivatthakakul T, Phornphutkul C.

Arch Orthop Trauma Surg. 2018 Apr;138(4):505-513. doi: 10.1007/s00402-018-2875-3. Epub 2018 Jan 19.

PMID:
29352436
9.

Growth and Neurodevelopmental Outcomes of Early, High-Dose Parenteral Amino Acid Intake in Very Low Birth Weight Infants: A Randomized Controlled Trial.

Balakrishnan M, Jennings A, Przystac L, Phornphutkul C, Tucker R, Vohr B, Stephens BE, Bliss JM.

JPEN J Parenter Enteral Nutr. 2018 Mar;42(3):597-606. doi: 10.1177/0148607117696330. Epub 2017 Dec 12.

PMID:
29187120
10.

Safe zones and a technical guide for cerclage wiring of the femur: a computed topographic angiogram (CTA) study.

Apivatthakakul T, Siripipattanamongkol P, Oh CW, Sananpanich K, Phornphutkul C.

Arch Orthop Trauma Surg. 2018 Jan;138(1):43-50. doi: 10.1007/s00402-017-2804-x. Epub 2017 Sep 27.

PMID:
28956150
11.

PRKAG2 mutations presenting in infancy.

Torok RD, Austin SL, Phornphutkul C, Rotondo KM, Bali D, Tatum GH, Wechsler SB, Buckley AF, Kishnani PS.

J Inherit Metab Dis. 2017 Nov;40(6):823-830. doi: 10.1007/s10545-017-0072-0. Epub 2017 Aug 11.

PMID:
28801758
12.

A novel, de novo mutation in the PRKAG2 gene: infantile-onset phenotype and the signaling pathway involved.

Xu Y, Gray A, Hardie DG, Uzun A, Shaw S, Padbury J, Phornphutkul C, Tseng YT.

Am J Physiol Heart Circ Physiol. 2017 Aug 1;313(2):H283-H292. doi: 10.1152/ajpheart.00813.2016. Epub 2017 May 26.

13.

Response to Growth hormone deficiency in mitochondrial disorders.

Quintos JB, Hodax JK, Gonzales-Ellis BA, Phornphutkul C, Wajnrajch MP, Boney CM.

J Pediatr Endocrinol Metab. 2017 Apr 1;30(4):483-484. doi: 10.1515/jpem-2017-0020. No abstract available.

PMID:
28315851
14.

Glycogen storage disease type IX and growth hormone deficiency presenting as severe ketotic hypoglycemia.

Hodax JK, Uysal S, Quintos JB, Phornphutkul C.

J Pediatr Endocrinol Metab. 2017 Feb 1;30(2):247-251. doi: 10.1515/jpem-2016-0342.

PMID:
28085675
15.

Efficacy of growth hormone therapy in Kearns-Sayre syndrome: the KIGS experience.

Quintos JB, Hodax JK, Gonzales-Ellis BA, Phornphutkul C, Wajnrajch MP, Boney CM.

J Pediatr Endocrinol Metab. 2016 Nov 1;29(11):1319-1324. doi: 10.1515/jpem-2016-0172. Review.

PMID:
27718492
16.

An asymptomatic mutation complicating severe chemotherapy-induced peripheral neuropathy (CIPN): a case for personalised medicine and a zebrafish model of CIPN.

Holloway MP, DeNardo BD, Phornphutkul C, Nguyen K, Davis C, Jackson C, Richendrfer H, Creton R, Altura RA.

NPJ Genom Med. 2016 Jun 8;1:16016. doi: 10.1038/npjgenmed.2016.16. eCollection 2016.

17.

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships.

Al-Sannaa NA, Bay L, Barbouth DS, Benhayoun Y, Goizet C, Guelbert N, Jones SA, Kyosen SO, Martins AM, Phornphutkul C, Reig C, Pleat R, Fallet S, Ivanovska Holder I.

Orphanet J Rare Dis. 2015 Oct 7;10:131. doi: 10.1186/s13023-015-0344-4.

18.

Anatomical relationship between the deep peroneal nerve and the anterolateral surface of the tibia in Thai cadavers.

Suriyuth J, Kittikun Viwatpinyo, Phornphutkul C, Mahakkanukrauh P.

J Med Assoc Thai. 2015 Feb;98(2):207-11.

PMID:
25842803
19.

A case of galactosialidosis with novel mutations of the protective protein/cathepsin a gene: diagnosis prompted by trophoblast vacuolization on placental examination.

Kostadinov S, Shah BA, Alroy J, Phornphutkul C.

Pediatr Dev Pathol. 2014 Nov-Dec;17(6):474-7. doi: 10.2350/14-05-1500-CR.1. Epub 2014 Jul 30.

PMID:
25075748
20.

Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein.

Pescosolido MF, Schwede M, Johnson Harrison A, Schmidt M, Gamsiz ED, Chen WS, Donahue JP, Shur N, Jerskey BA, Phornphutkul C, Morrow EM.

J Med Genet. 2014 Sep;51(9):587-9. doi: 10.1136/jmedgenet-2014-102444. Epub 2014 Jul 23. No abstract available.

21.

Autologous chondrocyte implantation for cartilage injury treatment in Chiang Mai University Hospital: a case report.

Wongtriratanachai P, Pruksakorn D, Pothacharoen P, Nimkingratana P, Pattamapaspong N, Phornphutkul C, Setsitthakun S, Fongsatitkul L, Phrompaet S.

J Med Assoc Thai. 2013 Nov;96(11):1518-22.

PMID:
24428104
22.

Newborn Screening for Glutaric Aciduria-II: The New England Experience.

Sahai I, Garganta CL, Bailey J, James P, Levy HL, Martin M, Neilan E, Phornphutkul C, Sweetser DA, Zytkovicz TH, Eaton RB.

JIMD Rep. 2014;13:1-14. doi: 10.1007/8904_2013_262. Epub 2013 Nov 5.

23.

The emerging phenotype of long-term survivors with infantile Pompe disease.

Prater SN, Banugaria SG, DeArmey SM, Botha EG, Stege EM, Case LE, Jones HN, Phornphutkul C, Wang RY, Young SP, Kishnani PS.

Genet Med. 2012 Sep;14(9):800-10. doi: 10.1038/gim.2012.44. Epub 2012 Apr 26.

24.

Percutaneous cerclage wiring and minimally invasive plate osteosynthesis (MIPO): a percutaneous reduction technique in the treatment of Vancouver type B1 periprosthetic femoral shaft fractures.

Apivatthakakul T, Phornphutkul C, Bunmaprasert T, Sananpanich K, Fernandez Dell'Oca A.

Arch Orthop Trauma Surg. 2012 Jun;132(6):813-22. doi: 10.1007/s00402-012-1489-4. Epub 2012 Mar 3.

PMID:
22389063
25.

Percutaneous cerclage wiring for reduction of periprosthetic and difficult femoral fractures. A technical note.

Apivatthakakul T, Phornphutkul C.

Injury. 2012 Jun;43(6):966-71. doi: 10.1016/j.injury.2011.11.007. Epub 2011 Dec 20.

PMID:
22192473
26.

Rhode Island metabolic newborn screening: the effect of early identification. A case report of argininosuccinic aciduria (ASA).

Beck NM, Johnston JP, Lemke KS, Pogacar P, Phornphutkul C.

Med Health R I. 2011 May;94(5):121-3. No abstract available.

PMID:
21710918
27.

Delayed diagnosis of Kawasaki disease: risk factors and outcome of treatment.

Sittiwangkul R, Pongprot Y, Silvilairat S, Phornphutkul C.

Ann Trop Paediatr. 2011;31(2):109-14. doi: 10.1179/1465328111Y.0000000005.

PMID:
21575314
28.

Congenital hypothyroidism with a delayed thyroid-stimulating hormone elevation in very premature infants: incidence and growth and developmental outcomes.

Woo HC, Lizarda A, Tucker R, Mitchell ML, Vohr B, Oh W, Phornphutkul C.

J Pediatr. 2011 Apr;158(4):538-42. doi: 10.1016/j.jpeds.2010.10.018. Epub 2011 Jan 13.

PMID:
21232766
29.

Neonatal thyroid function: effect of a single exposure to iodinated contrast medium in utero.

Bourjeily G, Chalhoub M, Phornphutkul C, Alleyne TC, Woodfield CA, Chen KK.

Radiology. 2010 Sep;256(3):744-50. doi: 10.1148/radiol.10100163. Epub 2010 Jul 15.

PMID:
20634430
30.

The mechanism of ascorbic acid-induced differentiation of ATDC5 chondrogenic cells.

Temu TM, Wu KY, Gruppuso PA, Phornphutkul C.

Am J Physiol Endocrinol Metab. 2010 Aug;299(2):E325-34. doi: 10.1152/ajpendo.00145.2010. Epub 2010 Jun 8.

31.

Early and severe indirect hyperbilirubinemia as a manifestation of galactosemia.

Woo HC, Phornphutkul C, Laptook AR.

J Perinatol. 2010 Apr;30(4):295-7. doi: 10.1038/jp.2009.136.

PMID:
20351709
32.

Less invasive plate osteosynthesis in humeral shaft fractures.

Apivatthakakul T, Phornphutkul C, Laohapoonrungsee A, Sirirungruangsarn Y.

Oper Orthop Traumatol. 2009 Dec;21(6):602-13. doi: 10.1007/s00064-009-2008-9.

PMID:
20087720
33.

Disorders of the growth plate.

Phornphutkul C, Gruppuso PA.

Curr Opin Endocrinol Diabetes Obes. 2009 Dec;16(6):430-4. doi: 10.1097/MED.0b013e328331dca2. Review.

34.

Incidence of positive intraoperative allograft cultures used in knee ligament reconstruction.

Phornphutkul C, Gruber BF, Wojtys EM.

J Knee Surg. 2009 Jul;22(3):191-5.

PMID:
19634721
35.

Leucine restriction inhibits chondrocyte proliferation and differentiation through mechanisms both dependent and independent of mTOR signaling.

Kim MS, Wu KY, Auyeung V, Chen Q, Gruppuso PA, Phornphutkul C.

Am J Physiol Endocrinol Metab. 2009 Jun;296(6):E1374-82. doi: 10.1152/ajpendo.91018.2008. Epub 2009 Apr 28.

36.

The effect of rapamycin on bone growth in rabbits.

Phornphutkul C, Lee M, Voigt C, Wu KY, Ehrlich MG, Gruppuso PA, Chen Q.

J Orthop Res. 2009 Sep;27(9):1157-61. doi: 10.1002/jor.20894.

37.

The effect of rapamycin on DNA synthesis in multiple tissues from late gestation fetal and postnatal rats.

Sanders JA, Lakhani A, Phornphutkul C, Wu KY, Gruppuso PA.

Am J Physiol Cell Physiol. 2008 Aug;295(2):C406-13. doi: 10.1152/ajpcell.00450.2007. Epub 2008 Jun 11.

38.

mTOR signaling contributes to chondrocyte differentiation.

Phornphutkul C, Wu KY, Auyeung V, Chen Q, Gruppuso PA.

Dev Dyn. 2008 Mar;237(3):702-12. doi: 10.1002/dvdy.21464.

39.

Tissue Doppler echocardiography reliably reflects severity of iron overload in pediatric patients with beta thalassemia.

Silvilairat S, Sittiwangkul R, Pongprot Y, Charoenkwan P, Phornphutkul C.

Eur J Echocardiogr. 2008 May;9(3):368-72. Epub 2007 Aug 7.

PMID:
17689292
40.

Loss of knee extension after anterior cruciate ligament reconstruction: effects of knee position and graft tensioning.

Austin JC, Phornphutkul C, Wojtys EM.

J Bone Joint Surg Am. 2007 Jul;89(7):1565-74.

PMID:
17606796
41.

Sonographic imaging of the patellofemoral medial joint stabilizing structures: findings in human cadavers.

Phornphutkul C, Sekiya JK, Wojtys EM, Jacobson JA.

Orthopedics. 2007 Jun;30(6):472-8. doi: 10.3928/01477447-20070601-15.

PMID:
17598492
42.

Factors determining immediate and medium-term results after pulmonary balloon valvuloplasty.

Silvilairat S, Pongprot Y, Sittiwangkul R, Phornphutkul C.

J Med Assoc Thai. 2006 Sep;89(9):1404-11.

PMID:
17100377
43.

Management and outcome of intravenous gammaglobulin-resistant Kawasaki disease.

Sittiwangkul R, Pongprot Y, Silvilairat S, Phornphutkul C.

Singapore Med J. 2006 Sep;47(9):780-4.

44.

The role of insulin in chondrogenesis.

Phornphutkul C, Wu KY, Gruppuso PA.

Mol Cell Endocrinol. 2006 Apr 25;249(1-2):107-15. Epub 2006 Mar 13.

PMID:
16530934
45.

Insulin-like growth factor-I signaling is modified during chondrocyte differentiation.

Phornphutkul C, Wu KY, Yang X, Chen Q, Gruppuso PA.

J Endocrinol. 2004 Dec;183(3):477-86.

PMID:
15590974
46.

Minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain.

Suwannarat P, Phornphutkul C, Bernardini I, Turner M, Gahl WA.

Arthritis Rheum. 2004 Nov;50(11):3698-701.

47.

Long-term follow-up of well-treated nephropathic cystinosis patients.

Kleta R, Bernardini I, Ueda M, Varade WS, Phornphutkul C, Krasnewich D, Gahl WA.

J Pediatr. 2004 Oct;145(4):555-60.

PMID:
15480385
48.

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.

Sagen JV, Raeder H, Hathout E, Shehadeh N, Gudmundsson K, Baevre H, Abuelo D, Phornphutkul C, Molnes J, Bell GI, Gloyn AL, Hattersley AT, Molven A, Søvik O, Njølstad PR.

Diabetes. 2004 Oct;53(10):2713-8.

49.

Kawasaki disease in Thai infants compared with older children.

Sittiwangkul R, Pongprot Y, Thongsongkrit W, Silvilairat S, Phornphutkul C.

Ann Trop Paediatr. 2004 Mar;24(1):59-63.

PMID:
15005968
50.

Pseudoaneurysm following modified Blalock-Taussig shunt: a rare complication mimicking pulmonary disease.

Pongprot Y, Silvilairat S, Woragidpoonpol S, Sittiwangkul R, Phornphutkul C.

J Med Assoc Thai. 2003 Apr;86(4):365-8.

PMID:
12757083

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