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Page 1
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, Poulter J, Klootwijk E, Robinette SL, Howie AJ, Patel V, Figueres ML, Stanescu HC, Issler N, Nicholson JK, Bockenhauer D, Laing C, Walsh SB, McCredie DA, Povey S, Asselin A, Picard A, Coulomb A, Medlar AJ, Bailleul-Forestier I, Verloes A, Le Caignec C, Roussey G, Guiol J, Isidor B, Logan C, Shore R, Johnson C, Inglehearn C, Al-Bahlani S, Schmittbuhl M, Clauss F, Huckert M, Laugel V, Ginglinger E, Pajarola S, Spartà G, Bartholdi D, Rauch A, Addor MC, Yamaguti PM, Safatle HP, Acevedo AC, Martelli-Júnior H, dos Santos Netos PE, Coletta RD, Gruessel S, Sandmann C, Ruehmann D, Langman CB, Scheinman SJ, Ozdemir-Ozenen D, Hart TC, Hart PS, Neugebauer U, Schlatter E, Houillier P, Gahl WA, Vikkula M, Bloch-Zupan A, Bleich M, Kitagawa H, Unwin RJ, Mighell A, Berdal A, Kleta R. Jaureguiberry G, et al. Among authors: vikkula m. Nephron Physiol. 2012;122(1-2):1-6. doi: 10.1159/000349989. Epub 2013 Feb 23. Nephron Physiol. 2012. PMID: 23434854 Free PMC article.
Lack of FAM20A, Ectopic Gingival Mineralization and Chondro/Osteogenic Modifications in Enamel Renal Syndrome.
Simancas Escorcia V, Diarra A, Naveau A, Dessombz A, Felizardo R, Cannaya V, Chatziantoniou C, Quentric M, Vikkula M, Cases O, Berdal A, De La Dure-Molla M, Kozyraki R. Simancas Escorcia V, et al. Among authors: vikkula m. Front Cell Dev Biol. 2020 Dec 8;8:605084. doi: 10.3389/fcell.2020.605084. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 33425910 Free PMC article.
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
Schlögel MJ, Mendola A, Fastré E, Vasudevan P, Devriendt K, de Ravel TJ, Van Esch H, Casteels I, Arroyo Carrera I, Cristofoli F, Fieggen K, Jones K, Lipson M, Balikova I, Singer A, Soller M, Mercedes Villanueva M, Revencu N, Boon LM, Brouillard P, Vikkula M. Schlögel MJ, et al. Among authors: vikkula m. Orphanet J Rare Dis. 2015 May 2;10:52. doi: 10.1186/s13023-015-0271-4. Orphanet J Rare Dis. 2015. PMID: 25934493 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: vikkula m. 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.
Genetic causes of vascular malformations.
Brouillard P, Vikkula M. Brouillard P, et al. Among authors: vikkula m. 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.
From blue jeans to blue genes.
Boon LM, Vikkula M. Boon LM, et al. Among authors: vikkula m. J Craniofac Surg. 2009 Mar;20 Suppl 1(Suppl 1):703-6. doi: 10.1097/SCS.0b013e318193d7a0. J Craniofac Surg. 2009. PMID: 19190503 Free PMC article.
Pathogenesis of vascular anomalies.
Boon LM, Ballieux F, Vikkula M. Boon LM, et al. Among authors: vikkula m. Clin Plast Surg. 2011 Jan;38(1):7-19. doi: 10.1016/j.cps.2010.08.012. Clin Plast Surg. 2011. PMID: 21095468 Free PMC article. Review.
254 results