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The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomas.
Diociaiuti A, Baselga E, Boon LM, Dompmartin A, Dvorakova V, El Hachem M, Gasparella P, Haxhija E, Ghaffarpour N, Kyrklund K, Irvine AD, Kapp FG, Rößler J, Salminen P, van den Bosch C, van der Vleuten C, Kool LS, Vikkula M. Diociaiuti A, et al. Among authors: dompmartin a. Eur J Med Genet. 2022 Jun;65(6):104517. doi: 10.1016/j.ejmg.2022.104517. Epub 2022 Apr 27. Eur J Med Genet. 2022. PMID: 35487416 Free article.
The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations.
Ghaffarpour N, Baselga E, Boon LM, Diociaiuti A, Dompmartin A, Dvorakova V, El Hachem M, Gasparella P, Haxhija E, Kyrklund K, Irvine AD, Kapp FG, Rößler J, Salminen P, van den Bosch C, van der Vleuten C, Kool LS, Vikkula M. Ghaffarpour N, et al. Among authors: dompmartin a. Eur J Med Genet. 2022 Dec;65(12):104637. doi: 10.1016/j.ejmg.2022.104637. Epub 2022 Oct 9. Eur J Med Genet. 2022. PMID: 36223836 Free 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. Among authors: dompmartin a. 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.
Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
Soblet J, Kangas J, Nätynki M, Mendola A, Helaers R, Uebelhoer M, Kaakinen M, Cordisco M, Dompmartin A, Enjolras O, Holden S, Irvine AD, Kangesu L, Léauté-Labrèze C, Lanoel A, Lokmic Z, Maas S, McAleer MA, Penington A, Rieu P, Syed S, van der Vleuten C, Watson R, Fishman SJ, Mulliken JB, Eklund L, Limaye N, Boon LM, Vikkula M. Soblet J, et al. Among authors: dompmartin a. J Invest Dermatol. 2017 Jan;137(1):207-216. doi: 10.1016/j.jid.2016.07.034. Epub 2016 Aug 9. J Invest Dermatol. 2017. PMID: 27519652 Free article.
Elevated D-dimer level in the differential diagnosis of venous malformations.
Dompmartin A, Ballieux F, Thibon P, Lequerrec A, Hermans C, Clapuyt P, Barrellier MT, Hammer F, Labbé D, Vikkula M, Boon LM. Dompmartin A, et al. Arch Dermatol. 2009 Nov;145(11):1239-44. doi: 10.1001/archdermatol.2009.296. Arch Dermatol. 2009. PMID: 19917952 Free PMC article.
Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.
Brouillard P, Schlögel MJ, Homayun Sepehr N, Helaers R, Queisser A, Fastré E, Boutry S, Schmitz S, Clapuyt P, Hammer F, Dompmartin A, Weitz-Tuoretmaa A, Laranne J, Pasquesoone L, Vilain C, Boon LM, Vikkula M. Brouillard P, et al. Among authors: dompmartin a. Orphanet J Rare Dis. 2021 Jun 10;16(1):267. doi: 10.1186/s13023-021-01898-y. Orphanet J Rare Dis. 2021. PMID: 34112235 Free PMC article.
203 results