Boon LM - Search Results

1

Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.

Pansuriya TC, van Eijk R, d'Adamo P, van Ruler MA, Kuijjer ML, Oosting J, Cleton-Jansen AM, van Oosterwijk JG, Verbeke SL, Meijer D, van Wezel T, Nord KH, Sangiorgi L, Toker B, Liegl-Atzwanger B, San-Julian M, Sciot R, Limaye N, Kindblom LG, Daugaard S, Godfraind C, Boon LM, Vikkula M, Kurek KC, Szuhai K, French PJ, Bovée JV. Pansuriya TC, et al. Among authors: boon lm. Nat Genet. 2011 Nov 6;43(12):1256-61. doi: 10.1038/ng.1004. Nat Genet. 2011. PMID: 22057234 Free PMC article.

2

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. Am J Hum Genet. 1999 Jul;65(1):125-33. doi: 10.1086/302450. Am J Hum Genet. 1999. PMID: 10364524 Free PMC article.

3

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: boon lm. Hum Mol Genet. 2000 May 22;9(9):1351-5. doi: 10.1093/hmg/9.9.1351. Hum Mol Genet. 2000. PMID: 10814716

4

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: boon lm. Eur J Hum Genet. 2001 Jan;9(1):34-8. doi: 10.1038/sj.ejhg.5200576. Eur J Hum Genet. 2001. PMID: 11175297

5

Molecular genetics of vascular malformations.

Vikkula M, Boon LM, Mulliken JB. Vikkula M, et al. Among authors: boon lm. 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: boon lm. 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: boon lm. 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: boon lm. 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: boon lm. 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. Among authors: boon lm. 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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