Kantaputra PN - Search Results

1

A truncating variant in SERPINA3, skin pustules and adult-onset immunodeficiency.

Kantaputra PN, Chuamanochan M, Kiratikanon S, Chiewchanvit S, Chaiwarith R, Intachai W, Quarto N, Tongsima S, McGrath JA, Ngamphiw C. Kantaputra PN, et al. J Dermatol. 2021 Aug;48(8):e370-e371. doi: 10.1111/1346-8138.15942. Epub 2021 May 7. J Dermatol. 2021. PMID: 33961311 No abstract available.

2

Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia.

Kantaputra PN, Hamada T, Kumchai T, McGrath JA. Kantaputra PN, et al. J Dent Res. 2003 Jun;82(6):433-7. doi: 10.1177/154405910308200606. J Dent Res. 2003. PMID: 12766194

3

All enamel is not created equal:Supports from a novel FAM83H mutation.

Kantaputra PN, Intachai W, Auychai P. Kantaputra PN, et al. Am J Med Genet A. 2016 Jan;170A(1):273-6. doi: 10.1002/ajmg.a.37406. Epub 2015 Oct 20. Am J Med Genet A. 2016. PMID: 26481691 No abstract available.

4

WNT10B mutations associated with isolated dental anomalies.

Kantaputra PN, Hutsadaloi A, Kaewgahya M, Intachai W, German R, Koparal M, Leethanakul C, Tolun A, Ketudat Cairns JR. Kantaputra PN, et al. Clin Genet. 2018 May;93(5):992-999. doi: 10.1111/cge.13218. Epub 2018 Mar 2. Clin Genet. 2018. PMID: 29364501

5

Split hand-foot malformation and a novel WNT10B mutation.

Kantaputra PN, Kapoor S, Verma P, Intachai W, Ketudat Cairns JR. Kantaputra PN, et al. Eur J Med Genet. 2018 Jul;61(7):372-375. doi: 10.1016/j.ejmg.2018.02.001. Epub 2018 Feb 7. Eur J Med Genet. 2018. PMID: 29427788

6

Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation.

Kantaputra PN, Sirirungruangsarn Y, Intachai W, Ngamphiw C, Tongsima S, Dejkhamron P. Kantaputra PN, et al. J Hum Genet. 2018 Jul;63(7):811-820. doi: 10.1038/s10038-018-0448-5. Epub 2018 Apr 10. J Hum Genet. 2018. PMID: 29636545

7

Isolated dentinogenesis imperfecta with glass-like enamel caused by COL1A2 mutation.

Kantaputra PN, Chinadet W, Intachai W, Ngamphiw C, Ketudat Cairns JR, Tongsima S. Kantaputra PN, et al. Am J Med Genet A. 2018 Dec;176(12):2919-2923. doi: 10.1002/ajmg.a.40501. Epub 2018 Aug 27. Am J Med Genet A. 2018. PMID: 30152103 No abstract available.

8

WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts.

Kantaputra PN, Sirirungruangsarn Y, Visrutaratna P, Petcharunpaisan S, Carlson BM, Intachai W, Sudasna J, Kampuansai J, Dejkhamron P. Kantaputra PN, et al. J Hum Genet. 2019 Apr;64(4):291-296. doi: 10.1038/s10038-019-0565-9. Epub 2019 Jan 28. J Hum Genet. 2019. PMID: 30692598

9

ADAMTSL1 and mandibular prognathism.

Kantaputra PN, Pruksametanan A, Phondee N, Hutsadaloi A, Intachai W, Kawasaki K, Ohazama A, Ngamphiw C, Tongsima S, Ketudat Cairns JR, Tripuwabhrut P. Kantaputra PN, et al. Clin Genet. 2019 Apr;95(4):507-515. doi: 10.1111/cge.13519. Clin Genet. 2019. PMID: 30714143

10

Clouston syndrome with dental anomalies, micropores of hair shafts and absence of palmoplantar keratoderma.

Kantaputra PN, Intachai W, Carlson BM, Pruksachatkunakorn C. Kantaputra PN, et al. J Dermatol. 2020 Mar;47(3):e90-e91. doi: 10.1111/1346-8138.15236. Epub 2020 Jan 21. J Dermatol. 2020. PMID: 31960478 Free article. No abstract available.

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