Vikkula M - Search Results

1

PTHR1 mutations associated with Ollier disease result in receptor loss of function.

Couvineau A, Wouters V, Bertrand G, Rouyer C, Gérard B, Boon LM, Grandchamp B, Vikkula M, Silve C. Couvineau A, et al. Among authors: vikkula m. Hum Mol Genet. 2008 Sep 15;17(18):2766-75. doi: 10.1093/hmg/ddn176. Epub 2008 Jun 17. Hum Mol Genet. 2008. PMID: 18559376 Free PMC article.

2

Assignment of a locus for dominantly inherited venous malformations to chromosome 9p.

Boon LM, Mulliken JB, Vikkula M, Watkins H, Seidman J, Olsen BR, Warman ML. Boon LM, et al. Among authors: vikkula m. Hum Mol Genet. 1994 Sep;3(9):1583-7. doi: 10.1093/hmg/3.9.1583. Hum Mol Genet. 1994. PMID: 7833915

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

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

5

Molecular genetics of vascular malformations.

Vikkula M, Boon LM, Mulliken JB. Vikkula M, et al. Matrix Biol. 2001 Sep;20(5-6):327-35. doi: 10.1016/s0945-053x(01)00150-0. Matrix Biol. 2001. PMID: 11566267 Review.

6

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.

7

Locus for susceptibility for familial capillary malformation ('port-wine stain') maps to 5q.

Eerola I, Boon LM, Watanabe S, Grynberg H, Mulliken JB, Vikkula M. Eerola I, et al. Among authors: vikkula m. Eur J Hum Genet. 2002 Jun;10(6):375-80. doi: 10.1038/sj.ejhg.5200817. Eur J Hum Genet. 2002. PMID: 12080389

8

A novel mutation in the SDHD gene in a family with inherited paragangliomas--implications of genetic diagnosis for follow up and treatment.

Renard L, Godfraind C, Boon LM, Vikkula M. Renard L, et al. Among authors: vikkula m. Head Neck. 2003 Feb;25(2):146-51. doi: 10.1002/hed.10220. Head Neck. 2003. PMID: 12509798

9

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.

10

Molecular basis of vascular anomalies.

Vikkula M, Boon LM, Mulliken JB, Olsen BR. Vikkula M, et al. Trends Cardiovasc Med. 1998 Oct;8(7):281-92. doi: 10.1016/s1050-1738(98)00024-3. Trends Cardiovasc Med. 1998. PMID: 14987552

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