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Select item 102754931.

The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Venous Malformations

Anne Dompmartin, Eulalia Baselga, Laurence M. Boon, Andrea Diociaiuti, Veronika Dvorakova, May El Hachem, Paolo Gasparella, Emir Haxhija, Nader Ghaffarpour, Kristiina Kyrklund, Alan D. Irvine, Friedrich G. Kapp, Jochen Rößler, Päivi Salminen, Caroline van den Bosch, Carine van der Vleuten, Leo Schultze Kool, Miikka Vikkula

J Vasc Anom (Phila) 2023 Jun; 4(2): e064. Published online 2023 Mar 23. doi: 10.1097/JOVA.0000000000000064

PMCID:: PMC10275493

Abstract Article PDF–801K

Select item 86260982.

PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism

Aileen A. Ren, Daniel A. Snellings, Sophie Y. Su, Courtney C. Hong, Marco Castro, Alan T. Tang, Matthew R. Detter, Nicholas Hobson, Romuald Girard, Sharbel Romanos, Rhonda Lightle, Thomas Moore, Robert Shenkar, Christian Benavides, M. Makenzie Beaman, Helge Mueller-Fielitz, Mei Chen, Patricia Mericko, Jisheng Yang, Derek C. Sung, Michael T. Lawton, Michael Ruppert, Markus Schwaninger, Jakob Körbelin, Michael Potente, Issam A. Awad, Douglas A. Marchuk, Mark L. Kahn

Nature. Author manuscript; available in PMC 2021 Nov 26.

Published in final edited form as: Nature. 2021 Jun; 594(7862): 271–276. Published online 2021 Apr 28. doi: 10.1038/s41586-021-03562-8

PMCID:: PMC8626098

Abstract Article PDF–6.4M

Select item 84440643.

Sirolimus (Rapamycin) for Slow-Flow Malformations in Children: The Observational-Phase Randomized Clinical PERFORMUS Trial

Annabel Maruani, Elsa Tavernier, Olivia Boccara, Juliette Mazereeuw-Hautier, Sophie Leducq, Didier Bessis, Laurent Guibaud, Pierre Vabres, Virginie Carmignac, Stéphanie Mallet, Sébastien Barbarot, Christine Chiaverini, Catherine Droitcourt, Anne-Claire Bursztejn, Céline Lengellé, Jean-Baptiste Woillard, Denis Herbreteau, Anne Le Touze, Aline Joly, Christine Léauté-Labrèze, Julie Powell, Hélène Bourgoin, Valérie Gissot, Bruno Giraudeau, Baptiste Morel

JAMA Dermatol. 2021 Nov; 157(11): 1–10. Published online 2021 Sep 15. doi: 10.1001/jamadermatol.2021.3459

PMCID:: PMC8444064

Abstract Article

Select item 78206214.

A dyadic approach to the delineation of diagnostic entities in clinical genomics

Leslie G. Biesecker, Margaret P. Adam, Fowzan S. Alkuraya, Anne R. Amemiya, Michael J. Bamshad, Anita E. Beck, James T. Bennett, Lynne M. Bird, John C. Carey, Brian Chung, Robin D. Clark, Timothy C. Cox, Cynthia Curry, Mary Beth Palko Dinulos, William B. Dobyns, Philip F. Giampietro, Katta M. Girisha, Ian A. Glass, John M. Graham, Jr., Karen W. Gripp, Chad R. Haldeman-Englert, Bryan D. Hall, A. Micheil Innes, Jennifer M. Kalish, Kim M. Keppler-Noreuil, Kenjiro Kosaki, Beth A. Kozel, Ghayda M. Mirzaa, John J. Mulvihill, Malgorzata J.M. Nowaczyk, Roberta A. Pagon, Kyle Retterer, Alan F. Rope, Pedro A. Sanchez-Lara, Laurie H. Seaver, Joseph T. Shieh, Anne M. Slavotinek, Andrew K. Sobering, Cathy A. Stevens, David A. Stevenson, Tiong Yang Tan, Wen-Hann Tan, Anne C. Tsai, David D. Weaver, Marc S. Williams, Elaine Zackai, Yuri A. Zarate

Am J Hum Genet. 2021 Jan 7; 108(1): 8–15. Published online 2021 Jan 7. doi: 10.1016/j.ajhg.2020.11.013

PMCID:: PMC7820621

Abstract Article PDF–202K

Select item 74972895.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 62068856.

Sirolimus is efficacious in treatment for extensive and/or complex slow-flow vascular malformations: a monocentric prospective phase II study

Jennifer Hammer, Emmanuel Seront, Steven Duez, Sophie Dupont, An Van Damme, Sandra Schmitz, Claire Hoyoux, Caroline Chopinet, Philippe Clapuyt, Frank Hammer, Miikka Vikkula, Laurence M. Boon

Orphanet J Rare Dis. 2018; 13: 191. Published online 2018 Oct 29. doi: 10.1186/s13023-018-0934-z

PMCID:: PMC6206885

Abstract Article PDF–1.1M

Select item 55725657.

Association of localized intravascular coagulopathy with venous malformations

Anne Dompmartin, Aurélie Acher, Pascal Thibon, Sébastien Tourbach, Cédric Hermans, Véronique Deneys, Ben Pocock, Agnès Lequerrec, Daniel Labbé, Marie-Thérèse Barrellier, Romain Vanwijck, Miikka Vikkula, Laurence M Boon

Arch Dermatol. Author manuscript; available in PMC 2017 Aug 28.

Published in final edited form as: Arch Dermatol. 2008 Jul; 144(7): 873–877. doi: 10.1001/archderm.144.7.873

PMCID:: PMC5572565

Abstract Article PDF–364K

Select item 47323628.

Efficacy and Safety of Sirolimus in the Treatment of Complicated Vascular Anomalies

Denise M. Adams, Cameron C. Trenor, III, Adrienne M. Hammill, Alexander A. Vinks, Manish N. Patel, Gulraiz Chaudry, Mary Sue Wentzel, Paula S. Mobberley-Schuman, Lisa M. Campbell, Christine Brookbank, Anita Gupta, Carol Chute, Jennifer Eile, Jesse McKenna, Arnold C. Merrow, Lin Fei, Lindsey Hornung, Michael Seid, A. Roshni Dasgupta, Belinda H. Dickie, Ravindhra G. Elluru, Anne W. Lucky, Brian Weiss, Richard G. Azizkhan

Pediatrics. 2016 Feb; 137(2): e20153257. doi: 10.1542/peds.2015-3257

PMCID:: PMC4732362

Abstract Article PDF–901K

Select item 47319259.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 467878210.

Somatic Activating PIK3CA Mutations Cause Venous Malformation

Nisha Limaye, Jaakko Kangas, Antonella Mendola, Catherine Godfraind, Matthieu J. Schlögel, Raphael Helaers, Lauri Eklund, Laurence M. Boon, Miikka Vikkula

Am J Hum Genet. 2015 Dec 3; 97(6): 914–921. Published online 2015 Dec 3. doi: 10.1016/j.ajhg.2015.11.011

PMCID:: PMC4678782

Abstract Article PDF–2.6M

Select item 461470511.

Common and specific effects of TIE2 mutations causing venous malformations

Marjut Nätynki, Jaakko Kangas, Ilkka Miinalainen, Raija Sormunen, Riikka Pietilä, Julie Soblet, Laurence M. Boon, Miikka Vikkula, Nisha Limaye, Lauri Eklund

Hum Mol Genet. 2015 Nov 15; 24(22): 6374–6389. Published online 2015 Aug 28. doi: 10.1093/hmg/ddv349

PMCID:: PMC4614705

Abstract Article PDF–1.6M

Select item 458823712.

Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects

Elisa Boscolo, Nisha Limaye, Lan Huang, Kyu-Tae Kang, Julie Soblet, Melanie Uebelhoer, Antonella Mendola, Marjut Natynki, Emmanuel Seront, Sophie Dupont, Jennifer Hammer, Catherine Legrand, Carlo Brugnara, Lauri Eklund, Miikka Vikkula, Joyce Bischoff, Laurence M. Boon

J Clin Invest. 2015 Sep 1; 125(9): 3491–3504. Published online 2015 Aug 10. doi: 10.1172/JCI76004

PMCID:: PMC4588237

Abstract Article PDF–7.4M

Select item 454475313.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 437562814.

A Somatic MAP3K3 Mutation Is Associated with Verrucous Venous Malformation

Javier A. Couto, Matthew P. Vivero, Harry P.W. Kozakewich, Amir H. Taghinia, John B. Mulliken, Matthew L. Warman, Arin K. Greene

Am J Hum Genet. 2015 Mar 5; 96(3): 480–486. doi: 10.1016/j.ajhg.2015.01.007

PMCID:: PMC4375628

Abstract Article PDF–1.4M

Select item 429400115.

Blue rubber bleb nevus syndrome: a rare cause of chronic gastrointestinal bleed in adults

Gayatri Amit Deshpande, Inian Samarasam, Sam Varghese George, Sudhakar Chandran

Singapore Med J. 2014 Nov; 55(11): e175–e176. doi: 10.11622/smedj.2014164

PMCID:: PMC4294001

Abstract Article PDF–681K

Select item 373686716.

Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB

Melanie Uebelhoer, Marjut Nätynki, Jaakko Kangas, Antonella Mendola, Ha-Long Nguyen, Julie Soblet, Catherine Godfraind, Laurence M. Boon, Lauri Eklund, Nisha Limaye, Miikka Vikkula

Hum Mol Genet. 2013 Sep 1; 22(17): 3438–3448. Published online 2013 Apr 30. doi: 10.1093/hmg/ddt198

PMCID:: PMC3736867

Abstract Article PDF–1.0M

Select item 366645617.

Genotypes and Phenotypes of 162 Families with a Glomulin Mutation

P. Brouillard, L.M. Boon, N. Revencu, J. Berg, A. Dompmartin, J. Dubois, M. Garzon, S. Holden, L. Kangesu, C. Labrèze, S.A. Lynch, C. McKeown, R. Meskauskas, I. Quere, S. Syed, P. Vabres, M. Wassef, J.B. Mulliken, M. Vikkula, GVM Study Group

Mol Syndromol. 2013 Apr; 4(4): 157–164. Published online 2013 Mar 26. doi: 10.1159/000348675

PMCID:: PMC3666456

Abstract Article PDF–440K

Select item 366645218.

Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations

J. Soblet, N. Limaye, M. Uebelhoer, L.M. Boon, M. Vikkula

Mol Syndromol. 2013 Apr; 4(4): 179–183. Published online 2013 Mar 26. doi: 10.1159/000348327

PMCID:: PMC3666452

Abstract Article PDF–409K

Select item 356728219.

Somatic Uniparental Isodisomy Explains Multifocality of Glomuvenous Malformations

Mustapha Amyere, Virginie Aerts, Pascal Brouillard, Brendan A.S. McIntyre, François P. Duhoux, Michel Wassef, Odile Enjolras, John B. Mulliken, Olivier Devuyst, Hélène Antoine-Poirel, Laurence M. Boon, Miikka Vikkula

Am J Hum Genet. 2013 Feb 7; 92(2): 188–196. doi: 10.1016/j.ajhg.2012.12.017

PMCID:: PMC3567282

Abstract Article PDF–964K

Select item 313208420.

Venous Malformation: update on etiopathogenesis, diagnosis & management

Anne Dompmartin, Miikka Vikkula, Laurence M Boon

Phlebology. Author manuscript; available in PMC 2011 Jul 8.

Published in final edited form as: Phlebology. 2010; 25(5): 224–235. doi: 10.1258/phleb.2009.009041

PMCID:: PMC3132084

Abstract Article PDF–1.3M

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