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7. 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; 95(4):516-519. PubMed ID: 30635911 [TBL] [Abstract][Full Text] [Related]
8. [Neonatal capillary malformation-arteriovenous malformation complicated with acute heart failure: a case report and literature review]. Wang LJ; Sun JH; Bei F Zhonghua Er Ke Za Zhi; 2020 Jul; 58(7):591-595. PubMed ID: 32605345 [No Abstract] [Full Text] [Related]
9. 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 Eur J Med Genet; 2018 Jan; 61(1):11-16. PubMed ID: 29024832 [TBL] [Abstract][Full Text] [Related]
10. 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; 136(11):1037-1048. PubMed ID: 28687708 [TBL] [Abstract][Full Text] [Related]
12. Novel RASA1 mutations in Japanese pedigrees with capillary malformation-arteriovenous malformation. Moteki Y; Akagawa H; Niimi Y; Okada Y; Kawamata T Brain Dev; 2019 Oct; 41(9):812-816. PubMed ID: 31230861 [TBL] [Abstract][Full Text] [Related]
13. Coexistence of RASA1 and COL4A2 variants caused pial arteriovenous fistula (AVF) in a patient with capillary malformation-arteriovenous malformation. Kumai T; Sadato A; Kurahashi H; Kato T; Adachi K; Hirose Y Clin Neurol Neurosurg; 2021 May; 204():106612. PubMed ID: 33799089 [TBL] [Abstract][Full Text] [Related]
14. EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report. Yu J; Streicher JL; Medne L; Krantz ID; Yan AC Pediatr Dermatol; 2017 Sep; 34(5):e227-e230. PubMed ID: 28730721 [TBL] [Abstract][Full Text] [Related]
15. Prenatal pleural effusions and chylothorax: An unusual presentation for CM-AVM syndrome due to RASA1. D'Amours G; Brunel-Guitton C; Delrue MA; Dubois J; Laberge S; Soucy JF Am J Med Genet A; 2020 Oct; 182(10):2454-2460. PubMed ID: 32776686 [No Abstract] [Full Text] [Related]
16. Atypical capillary malformations with subsequent diplegia: A difficult case of capillary malformation-arteriovenous malformation syndrome. Plumptre I; Robertson F; Rennie A; James G; Syed SB Pediatr Dermatol; 2020 Jan; 37(1):162-164. PubMed ID: 31746477 [TBL] [Abstract][Full Text] [Related]
17. Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation. Wooderchak-Donahue WL; Johnson P; McDonald J; Blei F; Berenstein A; Sorscher M; Mayer J; Scheuerle AE; Lewis T; Grimmer JF; Richter GT; Steeves MA; Lin AE; Stevenson DA; Bayrak-Toydemir P Eur J Hum Genet; 2018 Oct; 26(10):1521-1536. PubMed ID: 29891884 [TBL] [Abstract][Full Text] [Related]
18. 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; 35(1):e9-e12. PubMed ID: 29120072 [TBL] [Abstract][Full Text] [Related]
19. 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; 155():24. PubMed ID: 30026675 [TBL] [Abstract][Full Text] [Related]
20. Another face of RASA1: Report of familial germline variant in RASA1 with dysmorphic features. Hume E; Cossio ML; Vargas P; Cubillos MP; Maccioni A; Lay-Son G Am J Med Genet A; 2024 Nov; 194(11):e63711. PubMed ID: 38934655 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]