Boon LM - Search Results

1

Non-Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations.

Andreoti TA, Maiolo M, Tuleja A, Döring Y, Schaller A, Vassella E, Boon LM, Baumgartner I, Bernhard SM, Zweier C, Vikkula M, Rössler J. Andreoti TA, et al. Among authors: boon lm. Am J Med Genet A. 2024 Oct 7:e63883. doi: 10.1002/ajmg.a.63883. Online ahead of print. Am J Med Genet A. 2024. PMID: 39376044

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: boon lm. 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

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.

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: 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

5

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

6

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.

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: 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.

8

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

9

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

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: 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.

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