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Select item 39003541.

Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant - Case report

Gabriela Maria Abreu Gontijo, Clóvis Antonio Lopes Pinto, Silvia Regina Rogatto, Isabela Werneck da Cunha, Samuel Aguiar Junior, Célia Antônia Xavier de Moraes Alves

An Bras Dermatol. 2013 Nov-Dec; 88(6): 982–985. doi: 10.1590/abd1806-4841.20132730

PMCID:: PMC3900354

Abstract Article PDF–147K

Select item 110626392.

Updates on Sturge-Weber Syndrome

SangEun Yeom, Anne M. Comi

Stroke. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Stroke. 2022 Dec; 53(12): 3769–3779. Published online 2022 Oct 20. doi: 10.1161/STROKEAHA.122.038585

PMCID:: PMC11062639

Abstract Article PDF–615K

Select item 56678573.

Circular RNA profile of infantile hemangioma by microarray analysis

Cong Fu, Renrong Lv, Guangqi Xu, Linfeng Zhang, Jianhai Bi, Li Lin, Xiaowen Liu, Ran Huo

PLoS One. 2017; 12(11): e0187581. Published online 2017 Nov 2. doi: 10.1371/journal.pone.0187581

PMCID:: PMC5667857

Abstract Article PDF–8.9M

Select item 56657644.

Survivin: A novel marker and potential therapeutic target for human angiosarcoma

Masayuki Tsuneki, Takao Kinjo, Taisuke Mori, Akihiko Yoshida, Kayo Kuyama, Aoi Ohira, Takuya Miyagi, Kenzo Takahashi, Akira Kawai, Hirokazu Chuman, Naoya Yamazaki, Mikio Masuzawa, Hirofumi Arakawa

Cancer Sci. 2017 Nov; 108(11): 2295–2305. Published online 2017 Sep 15. doi: 10.1111/cas.13379

PMCID:: PMC5665764

Abstract Article PDF–2.9M

Select item 54784755.

Cell autonomous ANTXR1-mediated regulation of extracellular matrix components in primary fibroblasts

Kai Hu, Bjorn R. Olsen, Tatiana Y. Besschetnova

Matrix Biol. Author manuscript; available in PMC 2018 Oct 1.

Published in final edited form as: Matrix Biol. 2017 Oct; 62: 105–114. Published online 2016 Dec 20. doi: 10.1016/j.matbio.2016.12.002

PMCID:: PMC5478475

Abstract Article PDF–1024K

Select item 53035516.

Somatic GNAQ mutation is enriched in brain endothelial cells in Sturge-Weber Syndrome

Lan Huang, Javier A. Couto, Anna Pinto, Sanda Alexandrescu, Joseph R. Madsen, Arin K. Greene, Mustafa Sahin, Joyce Bischoff

Pediatr Neurol. Author manuscript; available in PMC 2018 Feb 1.

Published in final edited form as: Pediatr Neurol. 2017 Feb; 67: 59–63. Published online 2016 Oct 21. doi: 10.1016/j.pediatrneurol.2016.10.010

PMCID:: PMC5303551

Abstract Article PDF–675K

Select item 52185307.

Angiopoietin receptor Tie2 is required for vein specification and maintenance via regulating COUP-TFII

Man Chu, Taotao Li, Bin Shen, Xudong Cao, Haoyu Zhong, Luqing Zhang, Fei Zhou, Wenjuan Ma, Haijuan Jiang, Pancheng Xie, Zhengzheng Liu, Ningzheng Dong, Ying Xu, Yun Zhao, Guoqiang Xu, Peirong Lu, Jincai Luo, Qingyu Wu, Kari Alitalo, Gou Young Koh, Ralf H Adams, Yulong He

eLife. 2016; 5: e21032. Published online 2016 Dec 22. doi: 10.7554/eLife.21032

PMCID:: PMC5218530

Abstract Article PDF–7.6M

Select item 48334328.

Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma

Ugur M. Ayturk, Javier A. Couto, Steven Hann, John B. Mulliken, Kaitlin L. Williams, August Yue Huang, Steven J. Fishman, Theonia K. Boyd, Harry P.W. Kozakewich, Joyce Bischoff, Arin K. Greene, Matthew L. Warman

Am J Hum Genet. 2016 Apr 7; 98(4): 789–795. Published online 2016 Apr 7. doi: 10.1016/j.ajhg.2016.03.009

Correction in:: Am J Hum Genet. 2016 Jun 2; 98(6): 1271.

PMCID:: PMC4833432

Abstract Article PDF–1.8M

Select item 45741499.

Tumor-to-tumor metastases in Cowden’s disease: an autopsy case report and review of the literature

Karen Matsumoto, Kanae Nosaka, Tatsushi Shiomi, Yuki Matsuoka, Yoshihisa Umekita

Diagn Pathol. 2015; 10: 172. Published online 2015 Sep 17. doi: 10.1186/s13000-015-0408-8

PMCID:: PMC4574149

Abstract Article PDF–3.6M

Select item 456792110.

Frequent FOS Gene Rearrangements in Epithelioid Hemangioma: A Molecular Study of 58 Cases with Morphologic Reappraisal

Shih-Chiang Huang, Lei Zhang, Yun-Shao Sung, Chun-Liang Chen, Thomas Krausz, Brendan C Dickson, Yu-Chien Kao, Narasimhan P Agaram, Christopher D.M. Fletcher, Cristina R. Antonescu

Am J Surg Pathol. Author manuscript; available in PMC 2016 Oct 1.

Published in final edited form as: Am J Surg Pathol. 2015 Oct; 39(10): 1313–1321. doi: 10.1097/PAS.0000000000000469

PMCID:: PMC4567921

Abstract Article PDF–2.5M

Select item 440953011.

Regulatory mechanisms of anthrax toxin receptor 1-dependent vascular and connective tissue homeostasis

Tatiana Y. Besschetnova, Takaharu Ichimura, Negin Katebi, Brad St. Croix, Joseph V. Bonventre, Bjorn R. Olsen

Matrix Biol. Author manuscript; available in PMC 2016 Mar 1.

Published in final edited form as: Matrix Biol. 2015 Mar; 42: 56–73. Published online 2015 Jan 5. doi: 10.1016/j.matbio.2014.12.002

PMCID:: PMC4409530

Abstract Article PDF–3.4M

Select item 437562812.

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 432911913.

EXCEPTIONAL AGGRESSIVENESS OF CEREBRAL CAVERNOUS MALFORMATION DISEASE ASSOCIATED WITH PDCD10 MUTATIONS

Robert Shenkar, Changbin Shi, Tania Rebeiz, Rebecca A. Stockton, David A. McDonald, Abdul Ghani Mikati, Lingjiao Zhang, Cecilia Austin, Amy L. Akers, Carol J. Gallione, Autumn Rorrer, Murat Gunel, Wang Min, Jorge Marcondes De Souza, Connie Lee, Douglas A. Marchuk, Issam A. Awad

Genet Med. Author manuscript; available in PMC 2016 Mar 1.

Published in final edited form as: Genet Med. 2015 Mar; 17(3): 188–196. Published online 2014 Aug 14. doi: 10.1038/gim.2014.97

PMCID:: PMC4329119

Abstract Article PDF–2.8M

Select item 424549914.

Clinical and molecular characteristics of two transaldolase-deficient patients

Anna Tylki-Szymanska, Mirjam M. C. Wamelink, Teresa J. Stradomska, Gajja S. Salomons, Joanna Taybert, Nel Dąbrowska-Leonik, Małgorzata Rurarz

Eur J Pediatr. 2014; 173(12): 1679–1682. Published online 2014 Feb 5. doi: 10.1007/s00431-014-2261-2

PMCID:: PMC4245499

Abstract Article PDF–290K

Select item 410003515.

Epithelioid Hemangioendothelioma: clinicopathologic, immunhistochemical, and molecular genetic analysis of 39 cases

Uta Flucke, Rob JC Vogels, Nicolas de Saint Aubain Somerhausen, David H Creytens, Robert G Riedl, Joost M van Gorp, Anya N Milne, Clement J Huysentruyt, Marian AJ Verdijk, Monique M van Asseldonk, Albert JH Suurmeijer, Johannes Bras, Gabriele Palmedo, Patricia JTA Groenen, Thomas Mentzel

Diagn Pathol. 2014; 9: 131. Published online 2014 Jul 1. doi: 10.1186/1746-1596-9-131

PMCID:: PMC4100035

Abstract Article PDF–3.4M

Select item 406355216.

Dermatologic Findings in 61 Mutation-Positive Individuals with Cardio-facio-cutaneous Syndrome

D.H. Siegel, J. McKenzie, I.J. Frieden, K.A. Rauen

Br J Dermatol. Author manuscript; available in PMC 2014 Jun 19.

Published in final edited form as: Br J Dermatol. 2011 Mar; 164(3): 521–529. Published online 2011 Jan 28. doi: 10.1111/j.1365-2133.2010.10122.x

PMCID:: PMC4063552

Abstract Article PDF–983K

Select item 570899617.

Vascular Ehlers–Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci: A case report

Min A. Park, So Youn Shin, Young Jin Kim, Myung Jae Park, Seung Hyeun Lee

Medicine (Baltimore) 2017 Nov; 96(47): e8853. Published online 2017 Nov 27. doi: 10.1097/MD.0000000000008853

PMCID:: PMC5708996

Abstract Article PDF–629K

Select item 389379318.

A Potential Role for Notch Signaling in the Pathogenesis and Regulation of Hemangiomas

June K. Wu, Jan K. Kitajewski

J Craniofac Surg. Author manuscript; available in PMC 2014 Jan 16.

Published in final edited form as: J Craniofac Surg. 2009 Mar; 20(0 1): 698–702. doi: 10.1097/SCS.0b013e318193d898

Correction in:: volume 20 on page 1629

PMCID:: PMC3893793

Abstract Article PDF–102K

Select item 374906819.

Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ

Matthew D. Shirley, Hao Tang, Carol J. Gallione, Joseph D. Baugher, Laurence P. Frelin, Bernard Cohen, Paula E. North, Douglas A. Marchuk, Anne M. Comi, Jonathan Pevsner

N Engl J Med. Author manuscript; available in PMC 2013 Nov 23.

Published in final edited form as: N Engl J Med. 2013 May 23; 368(21): 1971–1979. Published online 2013 May 8. doi: 10.1056/NEJMoa1213507

PMCID:: PMC3749068

Abstract Article PDF–836K

Select item 355233920.

Arteriovenous Malformations and Other Vascular Malformation Syndromes

Kevin J. Whitehead, Matthew C. P. Smith, Dean Y. Li

Cold Spring Harb Perspect Med. 2013 Feb; 3(2): a006635. doi: 10.1101/cshperspect.a006635

PMCID:: PMC3552339

Abstract Article PDF–336K

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