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Journal Abstract Search

206 related items for PubMed ID: 32635943

  • 1. Unilateral and segmental distribution of facial erythema: is it a real port-wine stain?
    Cen Q, Sun Y, Zeng X, Liu Y, Liu F, Chen H, Lin X, Cai R.
    Hereditas; 2020 Jul 07; 157(1):27. PubMed ID: 32635943
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  • 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.
    Circulation; 2017 Sep 12; 136(11):1037-1048. PubMed ID: 28687708
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  • 3. RASA1 mutation in a family with capillary malformation-arteriovenous malformation syndrome: A discussion of the differential diagnosis.
    Edwards LR, Blechman AB, Zlotoff BJ.
    Pediatr Dermatol; 2018 Jan 12; 35(1):e9-e12. PubMed ID: 29120072
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  • 4. 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.
    Hum Mutat; 2013 Dec 12; 34(12):1632-41. PubMed ID: 24038909
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  • 8. Unilateral segmental presentation and a novel EPHB4 gene variant in capillary malformation-arteriovenous malformation type 2.
    Valente C, Caldeira MB, Duarte B, Batista J, Cordeiro AI.
    Pediatr Dermatol; 2024 Dec 12; 41(2):344-345. PubMed ID: 38092051
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  • 11. Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
    Wooderchak-Donahue WL, Akay G, Whitehead K, Briggs E, Stevenson DA, O'Fallon B, Velinder M, Farrell A, Shen W, Bedoukian E, Skrabann CM, Antaya RJ, Henderson K, Pollak J, Treat J, Day R, Jacher JE, Hannibal M, Bontempo K, Marth G, Bayrak-Toydemir P, McDonald J.
    Genet Med; 2019 Sep 12; 21(9):2007-2014. PubMed ID: 30760892
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  • 12. 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.
    Ann Dermatol Venereol; 2018 Sep 12; 145(8-9):486-491. PubMed ID: 30056992
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  • 14. 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.
    Clin Genet; 2019 Apr 12; 95(4):516-519. PubMed ID: 30635911
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  • 17. A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia.
    Cai R, Liu F, Hua C, Yu Z, Ramien M, Malic C, Yu W, Zhang X, Liu Y, Jin Y, Hu X, Lin X.
    Hereditas; 2018 Apr 12; 155():24. PubMed ID: 30026675
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  • 20. Capillary malformation-arteriovenous malformation syndrome with spinal involvement.
    Yiş U, Kurul SH, Güleryüz H, Men S.
    Pediatr Dermatol; 2014 Apr 12; 31(6):744-6. PubMed ID: 25040073
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