Similar articles for PMID: 28730721

Year	Number of Results
1987	1
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2002	3
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2013	14
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2016	8
2017	14
2018	23
2019	22
2020	29
2021	26
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2023	7
2024	0

1

EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report.

Yu J, Streicher JL, Medne L, Krantz ID, Yan AC. Yu J, et al. Pediatr Dermatol. 2017 Sep;34(5):e227-e230. doi: 10.1111/pde.13208. Epub 2017 Jul 21. Pediatr Dermatol. 2017. PMID: 28730721

2

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M. Amyere M, et al. Circulation. 2017 Sep 12;136(11):1037-1048. doi: 10.1161/CIRCULATIONAHA.116.026886. Epub 2017 Jul 7. Circulation. 2017. PMID: 28687708 Free article.

3

Multiple capillary malformations of progressive onset: Capillary malformation-arteriovenous malformation syndrome (CM-AVM).

Gourier G, Audebert-Bellanger S, Vourc'h P, Fraitag S, L'Hérondelle K, Labouche A, Misery L, Abasq-Thomas C. Gourier G, et al. Ann Dermatol Venereol. 2018 Aug-Sep;145(8-9):486-491. doi: 10.1016/j.annder.2018.04.010. Epub 2018 Jul 26. Ann Dermatol Venereol. 2018. PMID: 30056992

4

A case of capillary malformation-arteriovenous malformation and Ebstein's anomaly in a child with EphB4 mutation.

Sherwani Y, Jenkins S, Adelanwa A, Burch DM, Chaudhuri NR, Zinn Z. Sherwani Y, et al. Pediatr Dermatol. 2021 Sep;38(5):1305-1307. doi: 10.1111/pde.14723. Epub 2021 Aug 2. Pediatr Dermatol. 2021. PMID: 34339071

5

Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation.

Lapinski PE, Doosti A, Salato V, North P, Burrows PE, King PD. Lapinski PE, et al. Eur J Med Genet. 2018 Jan;61(1):11-16. doi: 10.1016/j.ejmg.2017.10.004. Epub 2017 Oct 9. Eur J Med Genet. 2018. PMID: 29024832 Free PMC article.

6

RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome.

Macmurdo CF, Wooderchak-Donahue W, Bayrak-Toydemir P, Le J, Wallenstein MB, Milla C, Teng JM, Bernstein JA, Stevenson DA. Macmurdo CF, et al. Am J Med Genet A. 2016 Jun;170(6):1450-4. doi: 10.1002/ajmg.a.37613. Epub 2016 Mar 11. Am J Med Genet A. 2016. PMID: 26969842

7

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.

Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, Clapuyt P, Hammer F, Amor DJ, Irvine AD, Baselga E, Dompmartin A, Syed S, Martin-Santiago A, Ades L, Collins F, Smith J, Sandaradura S, Barrio VR, Burrows PE, Blei F, Cozzolino M, Brunetti-Pierri N, Vicente A, Abramowicz M, Désir J, Vilain C, Chung WK, Wilson A, Gardiner CA, Dwight Y, Lord DJ, Fishman L, Cytrynbaum C, Chamlin S, Ghali F, Gilaberte Y, Joss S, Boente Mdel C, Léauté-Labrèze C, Delrue MA, Bayliss S, Martorell L, González-Enseñat MA, Mazereeuw-Hautier J, O'Donnell B, Bessis D, Pyeritz RE, Salhi A, Tan OT, Wargon O, Mulliken JB, Vikkula M. Revencu N, et al. Hum Mutat. 2013 Dec;34(12):1632-41. doi: 10.1002/humu.22431. Epub 2013 Oct 10. Hum Mutat. 2013. PMID: 24038909

8

Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis.

Overcash RT, Gibu CK, Jones MC, Ramos GA, Andreasen TS. Overcash RT, et al. Am J Med Genet A. 2015 Oct;167A(10):2440-3. doi: 10.1002/ajmg.a.37203. Epub 2015 Jun 11. Am J Med Genet A. 2015. PMID: 26096958

9

RASA1 mutation in a family with capillary malformation-arteriovenous malformation syndrome: A discussion of the differential diagnosis.

Edwards LR, Blechman AB, Zlotoff BJ. Edwards LR, et al. Pediatr Dermatol. 2018 Jan;35(1):e9-e12. doi: 10.1111/pde.13332. Epub 2017 Nov 9. Pediatr Dermatol. 2018. PMID: 29120072

10

Constitutional mosaicism in RASA1-related capillary malformation-arteriovenous malformation.

Gordo G, Rodriguez-Laguna L, Agra N, Mendez P, Feito M, Lapunzina P, Lopez-Gutierrez JC, Martinez-Glez V. Gordo G, et al. Clin Genet. 2019 Apr;95(4):516-519. doi: 10.1111/cge.13499. Epub 2019 Feb 4. Clin Genet. 2019. PMID: 30635911

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