Praphanphoj V - Search Results

1

Bilateral squamosal synostosis: unusual presentation of chromosome 1p12-1p13.3 deletion. Illustrative case.

Chaisrisawadisuk S, Vatanavicharn N, Praphanphoj V, Anderson PJ, Moore MH. Chaisrisawadisuk S, et al. Among authors: praphanphoj v. J Neurosurg Case Lessons. 2021 Jan 18;1(3):CASE20102. doi: 10.3171/CASE20102. eCollection 2021 Jan 18. J Neurosurg Case Lessons. 2021. PMID: 36034505 Free PMC article.

2

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. Among authors: praphanphoj v. 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.

3

Screening for Subtelomeric Rearrangements in Thai Patients with Intellectual Disabilities Using FISH and Review of Literature on Subtelomeric FISH in 15,591 Cases with Intellectual Disabilities.

Charalsawadi C, Khayman J, Praphanphoj V, Limprasert P. Charalsawadi C, et al. Among authors: praphanphoj v. Genet Res Int. 2016;2016:9153740. doi: 10.1155/2016/9153740. Epub 2016 Oct 16. Genet Res Int. 2016. PMID: 27822388 Free PMC article.

4

A case with a ring chromosome 13 in a cohort of 203 children with non-syndromic autism and review of the cytogenetic literature.

Charalsawadi C, Maisrikhaw W, Praphanphoj V, Wirojanan J, Hansakunachai T, Roongpraiwan R, Sombuntham T, Ruangdaraganon N, Limprasert P. Charalsawadi C, et al. Among authors: praphanphoj v. Cytogenet Genome Res. 2014;144(1):1-8. doi: 10.1159/000365909. Epub 2014 Aug 23. Cytogenet Genome Res. 2014. PMID: 25171325 Review.

5

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. Among authors: praphanphoj v. 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.

6

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. Among authors: praphanphoj v. 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

7

Tricho-rhino-phalangeal syndrome with supernumerary teeth.

Kantaputra P, Miletich I, Lüdecke HJ, Suzuki EY, Praphanphoj V, Shivdasani R, Wuelling M, Vortkamp A, Napierala D, Sharpe PT. Kantaputra P, et al. Among authors: praphanphoj v. J Dent Res. 2008 Nov;87(11):1027-31. doi: 10.1177/154405910808701102. J Dent Res. 2008. PMID: 18946009

8

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.

De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, Courtens W, Hjalgrim H, Huang S, Liebaers I, Van Regemorter N, Touraine P, Praphanphoj V, Verloes A, Udar N, Yellore V, Chalukya M, Yelchits S, De Paepe A, Kuttenn F, Fellous M, Veitia R, Messiaen L. De Baere E, et al. Among authors: praphanphoj v. Hum Mol Genet. 2001 Jul 15;10(15):1591-600. doi: 10.1093/hmg/10.15.1591. Hum Mol Genet. 2001. PMID: 11468277

9

Tetralogy of Fallot with absent pulmonary valve in a de novo derivative chromosome 9 with duplication of 9p13 --> 9pter and deletion of 9q34.3.

Tansatit M, Kongruttanachok N, Kongnak W, Arunpan S, Maneeshote P, Buasorn V, Praphanphoj V, Shotelersuk V. Tansatit M, et al. Among authors: praphanphoj v. Am J Med Genet A. 2006 Sep 15;140(18):1981-7. doi: 10.1002/ajmg.a.31424. Am J Med Genet A. 2006. PMID: 16906562 No abstract available.

10

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: praphanphoj v. Clin Genet. 2021 Dec;100(6):703-712. doi: 10.1111/cge.14060. Epub 2021 Sep 22. Clin Genet. 2021. PMID: 34496037

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