Kantaputra P - Search Results

1

The Thai reference exome (T-REx) variant database.

Shotelersuk V, Wichadakul D, Ngamphiw C, Srichomthong C, Phokaew C, Wilantho A, Pakchuen S, Nakhonsri V, Shaw PJ, Wasitthankasem R, Piriyapongsa J, Wangkumhang P, Assawapitaksakul A, Chetruengchai W, Lapphra K, Khuninthong A, Makarawate P, Suphapeetiporn K, Mahasirimongkol S, Satproedprai N, Porntaveetus T, Pisitkun P, Praphanphoj V, Kantaputra P, Tassaneeyakul W, Tongsima S. Shotelersuk V, et al. Among authors: kantaputra p. Clin Genet. 2021 Dec;100(6):703-712. doi: 10.1111/cge.14060. Epub 2021 Sep 22. Clin Genet. 2021. PMID: 34496037

2

Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndrome.

Kantaputra PN, Tanpaiboon P, Unachak K, Praphanphoj V. Kantaputra PN, et al. Am J Med Genet A. 2004 Oct 1;130A(2):181-90. doi: 10.1002/ajmg.a.30079. Am J Med Genet A. 2004. PMID: 15372530 Review.

3

Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: association with an 18p11.3 deletion.

Kantaputra PN, Limwongse C, Tochareontanaphol C, Mutirangura A, Mevatee U, Praphanphoj V. Kantaputra PN, et al. Am J Med Genet A. 2006 Dec 1;140(23):2598-602. doi: 10.1002/ajmg.a.31386. Am J Med Genet A. 2006. PMID: 17001671

4

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.

Kantaputra PN, Klopocki E, Hennig BP, Praphanphoj V, Le Caignec C, Isidor B, Kwee ML, Shears DJ, Mundlos S. Kantaputra PN, et al. Eur J Hum Genet. 2010 Dec;18(12):1310-4. doi: 10.1038/ejhg.2010.116. Epub 2010 Jul 21. Eur J Hum Genet. 2010. PMID: 20648051 Free PMC article.

5

The smallest teeth in the world are caused by mutations in the PCNT gene.

Kantaputra P, Tanpaiboon P, Porntaveetus T, Ohazama A, Sharpe P, Rauch A, Hussadaloy A, Thiel CT. Kantaputra P, et al. Am J Med Genet A. 2011 Jun;155A(6):1398-403. doi: 10.1002/ajmg.a.33984. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567919

6

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

7

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

8

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.

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

Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2.

Kantaputra PN, Dejkhamron P, Intachai W, Ngamphiw C, Kawasaki K, Ohazama A, Krisanaprakornkit S, Olsen B, Tongsima S, Ketudat Cairns JR. Kantaputra PN, et al. Eur J Orthod. 2021 Jan 29;43(1):45-50. doi: 10.1093/ejo/cjaa023. Eur J Orthod. 2021. PMID: 32255174

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