Vikkula M - Search Results

1

RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation.

Revencu N, Fastre E, Ravoet M, Helaers R, Brouillard P, Bisdorff-Bresson A, Chung CWT, Gerard M, Dvorakova V, Irvine AD, Boon LM, Vikkula M. Revencu N, et al. Among authors: vikkula m. J Med Genet. 2020 Jan;57(1):48-52. doi: 10.1136/jmedgenet-2019-106024. Epub 2019 Jul 12. J Med Genet. 2020. PMID: 31300548

2

A gene for familial venous malformations maps to chromosome 9p in a second large kindred.

Gallione CJ, Pasyk KA, Boon LM, Lennon F, Johnson DW, Helmbold EA, Markel DS, Vikkula M, Mulliken JB, Warman ML, et al. Gallione CJ, et al. Among authors: vikkula m. J Med Genet. 1995 Mar;32(3):197-9. doi: 10.1136/jmg.32.3.197. J Med Genet. 1995. PMID: 7783168 Free PMC article.

3

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

4

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.

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

High-resolution physical and transcript map of the locus for venous malformations with glomus cells (VMGLOM) on chromosome 1p21-p22.

Brouillard P, Olsen BR, Vikkula M. Brouillard P, et al. Among authors: vikkula m. Genomics. 2000 Jul 1;67(1):96-101. doi: 10.1006/geno.2000.6232. Genomics. 2000. PMID: 10945476

7

Linkage disequilibrium narrows locus for venous malformation with glomus cells (VMGLOM) to a single 1.48 Mbp YAC.

Irrthum A, Brouillard P, Enjolras O, Gibbs NF, Eichenfield LF, Olsen BR, Mulliken JB, Boon LM, Vikkula M. Irrthum A, et al. Among authors: vikkula m. Eur J Hum Genet. 2001 Jan;9(1):34-8. doi: 10.1038/sj.ejhg.5200576. Eur J Hum Genet. 2001. PMID: 11175297

8

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.

9

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.

10

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

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