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Page 1
Characterization of ANGPT2 mutations associated with primary lymphedema.
Leppänen VM, Brouillard P, Korhonen EA, Sipilä T, Jha SK, Revencu N, Labarque V, Fastré E, Schlögel M, Ravoet M, Singer A, Luzzatto C, Angelone D, Crichiutti G, D'Elia A, Kuurne J, Elamaa H, Koh GY, Saharinen P, Vikkula M, Alitalo K. Leppänen VM, et al. Among authors: schlogel m. Sci Transl Med. 2020 Sep 9;12(560):eaax8013. doi: 10.1126/scitranslmed.aax8013. Sci Transl Med. 2020. PMID: 32908006
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. 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.
Somatic Activating PIK3CA Mutations Cause Venous Malformation.
Limaye N, Kangas J, Mendola A, Godfraind C, Schlögel MJ, Helaers R, Eklund L, Boon LM, Vikkula M. Limaye N, et al. Among authors: schlogel mj. Am J Hum Genet. 2015 Dec 3;97(6):914-21. doi: 10.1016/j.ajhg.2015.11.011. Am J Hum Genet. 2015. PMID: 26637981 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: schlogel mj. 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.
Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.
Mendola A, Schlögel MJ, Ghalamkarpour A, Irrthum A, Nguyen HL, Fastré E, Bygum A, van der Vleuten C, Fagerberg C, Baselga E, Quere I, Mulliken JB, Boon LM, Brouillard P, Vikkula M; Lymphedema Research Group. Mendola A, et al. Among authors: schlogel mj. Mol Syndromol. 2013 Sep;4(6):257-66. doi: 10.1159/000354097. Epub 2013 Aug 21. Mol Syndromol. 2013. PMID: 24167460 Free PMC article.
Round window vibroplasty: long-term results.
Böheim K, Mlynski R, Lenarz T, Schlögel M, Hagen R. Böheim K, et al. Among authors: schlogel m. Acta Otolaryngol. 2012 Oct;132(10):1042-8. doi: 10.3109/00016489.2012.684701. Epub 2012 Jul 10. Acta Otolaryngol. 2012. PMID: 22779784