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PubMed (Bookshelf cited) for id: 325026

44 results

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Page 1
Allelic and locus heterogeneity in inherited venous malformations.
Calvert JT, Riney TJ, Kontos CD, Cha EH, Prieto VG, Shea CR, Berg JN, Nevin NC, Simpson SA, Pasyk KA, Speer MC, Peters KG, Marchuk DA. Calvert JT, et al. Hum Mol Genet. 1999 Jul;8(7):1279-89. doi: 10.1093/hmg/8.7.1279. Hum Mol Genet. 1999. PMID: 10369874
Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect.
Brouillard P, Ghassibé M, Penington A, Boon LM, Dompmartin A, Temple IK, Cordisco M, Adams D, Piette F, Harper JI, Syed S, Boralevi F, Taïeb A, Danda S, Baselga E, Enjolras O, Mulliken JB, Vikkula M. Brouillard P, et al. J Med Genet. 2005 Feb;42(2):e13. doi: 10.1136/jmg.2004.024174. J Med Genet. 2005. PMID: 15689436 Free PMC article.
Genetic causes of vascular malformations.
Brouillard P, Vikkula M. Brouillard P, et al. Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R140-9. doi: 10.1093/hmg/ddm211. Epub 2007 Jul 31. Hum Mol Genet. 2007. PMID: 17670762 Review.
Association of localized intravascular coagulopathy with venous malformations.
Dompmartin A, Acher A, Thibon P, Tourbach S, Hermans C, Deneys V, Pocock B, Lequerrec A, Labbé D, Barrellier MT, Vanwijck R, Vikkula M, Boon LM. Dompmartin A, et al. Arch Dermatol. 2008 Jul;144(7):873-7. doi: 10.1001/archderm.144.7.873. Arch Dermatol. 2008. PMID: 18645138 Free PMC article.
Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.
Wouters V, Limaye N, Uebelhoer M, Irrthum A, Boon LM, Mulliken JB, Enjolras O, Baselga E, Berg J, Dompmartin A, Ivarsson SA, Kangesu L, Lacassie Y, Murphy J, Teebi AS, Penington A, Rieu P, Vikkula M. Wouters V, et al. Eur J Hum Genet. 2010 Apr;18(4):414-20. doi: 10.1038/ejhg.2009.193. Epub 2009 Nov 4. Eur J Hum Genet. 2010. PMID: 19888299 Free PMC article.
44 results