Vikkula M - Search Results

1

Gene symbol: IRF6. Disease: Van der Woude syndrome.

Ghassibe M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M. Ghassibe M, et al. Among authors: vikkula m. Hum Genet. 2003 Nov;113(6):557. Hum Genet. 2003. PMID: 14640117 No abstract available.

2

A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

Veiga-da-Cunha M, Gerin I, Chen YT, de Barsy T, de Lonlay P, Dionisi-Vici C, Fenske CD, Lee PJ, Leonard JV, Maire I, McConkie-Rosell A, Schweitzer S, Vikkula M, Van Schaftingen E. Veiga-da-Cunha M, et al. Among authors: vikkula m. Am J Hum Genet. 1998 Oct;63(4):976-83. doi: 10.1086/302068. Am J Hum Genet. 1998. PMID: 9758626 Free PMC article.

3

A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22.

Boon LM, Brouillard P, Irrthum A, Karttunen L, Warman ML, Rudolph R, Mulliken JB, Olsen BR, Vikkula M. Boon LM, et al. Among authors: vikkula m. Am J Hum Genet. 1999 Jul;65(1):125-33. doi: 10.1086/302450. Am J Hum Genet. 1999. PMID: 10364524 Free PMC article.

4

The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.

Veiga-da-Cunha M, Gerin I, Chen YT, Lee PJ, Leonard JV, Maire I, Wendel U, Vikkula M, Van Schaftingen E. Veiga-da-Cunha M, et al. Among authors: vikkula m. Eur J Hum Genet. 1999 Sep;7(6):717-23. doi: 10.1038/sj.ejhg.5200366. Eur J Hum Genet. 1999. PMID: 10482962

5

KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation.

Eerola I, Plate KH, Spiegel R, Boon LM, Mulliken JB, Vikkula M. Eerola I, et al. Among authors: vikkula m. Hum Mol Genet. 2000 May 22;9(9):1351-5. doi: 10.1093/hmg/9.9.1351. Hum Mol Genet. 2000. PMID: 10814716

6

Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.

Irrthum A, Karkkainen MJ, Devriendt K, Alitalo K, Vikkula M. Irrthum A, et al. Among authors: vikkula m. Am J Hum Genet. 2000 Aug;67(2):295-301. doi: 10.1086/303019. Epub 2000 Jun 9. Am J Hum Genet. 2000. PMID: 10856194 Free PMC article.

7

Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas").

Brouillard P, Boon LM, Mulliken JB, Enjolras O, Ghassibé M, Warman ML, Tan OT, Olsen BR, Vikkula M. Brouillard P, et al. Among authors: vikkula m. Am J Hum Genet. 2002 Apr;70(4):866-74. doi: 10.1086/339492. Epub 2002 Feb 13. Am J Hum Genet. 2002. PMID: 11845407 Free PMC article.

8

Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene.

Gutierrez-Roelens I, Sluysmans T, Gewillig M, Devriendt K, Vikkula M. Gutierrez-Roelens I, et al. Among authors: vikkula m. Hum Mutat. 2002 Jul;20(1):75-6. doi: 10.1002/humu.9041. Hum Mutat. 2002. PMID: 12112663

9

Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.

Irrthum A, Devriendt K, Chitayat D, Matthijs G, Glade C, Steijlen PM, Fryns JP, Van Steensel MA, Vikkula M. Irrthum A, et al. Among authors: vikkula m. Am J Hum Genet. 2003 Jun;72(6):1470-8. doi: 10.1086/375614. Epub 2003 May 8. Am J Hum Genet. 2003. PMID: 12740761 Free PMC article.

10

Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.

Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M. Eerola I, et al. Among authors: vikkula m. Am J Hum Genet. 2003 Dec;73(6):1240-9. doi: 10.1086/379793. Epub 2003 Nov 24. Am J Hum Genet. 2003. PMID: 14639529 Free PMC article.

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