Kantaputra PN - Search Results

1

A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet.

Kondoh S, Sugawara H, Harada N, Matsumoto N, Ohashi H, Sato M, Kantaputra PN, Ogino T, Tomita H, Ohta T, Kishino T, Fukushima Y, Niikawa N, Yoshiura K. Kondoh S, et al. Among authors: kantaputra pn. J Hum Genet. 2002;47(3):136-9. doi: 10.1007/s100380200015. J Hum Genet. 2002. PMID: 11954550

2

The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32.

Fujimoto M, Kantaputra PN, Ikegawa S, Fukushima Y, Sonta S, Matsuo M, Ishida T, Matsumoto T, Kondo S, Tomita H, Deng HX, D'urso M, Rinaldi MM, Ventruto V, Takagi T, Nakamura Y, Niikawa N. Fujimoto M, et al. Among authors: kantaputra pn. J Hum Genet. 1998;43(1):32-6. doi: 10.1007/s100380050033. J Hum Genet. 1998. PMID: 9609995

3

A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch: a new distal symphalangism syndrome?

Kantaputra PN, Kinoshita A, Limwonges C, Praditsup O, Niikawa N. Kantaputra PN, et al. Am J Med Genet. 2002 Apr 15;109(1):56-60. Am J Med Genet. 2002. PMID: 11932993

4

A dominantly inherited malformation syndrome with short stature, upper limb anomaly, minor craniofacial anomalies, and absence of TBX5 mutations: report of a Thai family.

Kantaputra PN, Yamasaki K, Ishida T, Kishino T, Niikawa N. Kantaputra PN, et al. Am J Med Genet. 2002 Aug 15;111(3):301-6. doi: 10.1002/ajmg.10596. Am J Med Genet. 2002. PMID: 12210327

5

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.

6

TFAP2B mutation and dental anomalies.

Tanasubsinn N, Sittiwangkul R, Pongprot Y, Kawasaki K, Ohazama A, Sastraruji T, Kaewgahya M, Kantaputra PN. Tanasubsinn N, et al. Among authors: kantaputra pn. J Hum Genet. 2017 Aug;62(8):769-775. doi: 10.1038/jhg.2017.37. Epub 2017 Apr 6. J Hum Genet. 2017. PMID: 28381879 Free PMC article.

7

Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation.

Tananuvat N, Tananuvat R, Chartapisak W, Mahanupab P, Hokierti C, Srikummool M, Kampuansai J, Intachai W, Olsen B, Ketudat Cairns JR, Kantaputra P. Tananuvat N, et al. J Hum Genet. 2021 Feb;66(2):193-203. doi: 10.1038/s10038-020-00834-5. Epub 2020 Sep 3. J Hum Genet. 2021. PMID: 32884076

8

BCOR mutations and unstoppable root growth: a commentary on oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells.

Kantaputra PN. Kantaputra PN. J Hum Genet. 2014 Jun;59(6):297-9. doi: 10.1038/jhg.2014.31. Epub 2014 May 1. J Hum Genet. 2014. PMID: 24785690 No abstract available.

9

Preaxial polydactyly associated with a MSX1 mutation and report of two novel mutations.

Wattanarat O, Kantaputra PN. Wattanarat O, et al. Among authors: kantaputra pn. Am J Med Genet A. 2016 Jan;170A(1):254-9. doi: 10.1002/ajmg.a.37417. Epub 2015 Oct 13. Am J Med Genet A. 2016. PMID: 26463473

10

Periodontal disease and FAM20A mutations.

Kantaputra PN, Bongkochwilawan C, Lubinsky M, Pata S, Kaewgahya M, Tong HJ, Ketudat Cairns JR, Guven Y, Chaisrisookumporn N. Kantaputra PN, et al. J Hum Genet. 2017 Jul;62(7):679-686. doi: 10.1038/jhg.2017.26. Epub 2017 Mar 16. J Hum Genet. 2017. PMID: 28298625

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