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6. 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 Am J Med Genet A; 2015 Oct; 167A(10):2440-3. PubMed ID: 26096958 [TBL] [Abstract][Full Text] [Related]
7. 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]
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9. 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]
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 Clin Genet; 2019 Apr; 95(4):516-519. PubMed ID: 30635911 [TBL] [Abstract][Full Text] [Related]
11. RASA-1 somatic "second hit" mutation in capillary malformation-arteriovenous malformation. Cai R; Liu F; Liu Y; Chen H; Lin X J Dermatol; 2018 Dec; 45(12):1478-1480. PubMed ID: 30368862 [No Abstract] [Full Text] [Related]
12. Blood vascular abnormalities in Rasa1(R780Q) knockin mice: implications for the pathogenesis of capillary malformation-arteriovenous malformation. Lubeck BA; Lapinski PE; Bauler TJ; Oliver JA; Hughes ED; Saunders TL; King PD Am J Pathol; 2014 Dec; 184(12):3163-9. PubMed ID: 25283357 [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. 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]
15. 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]
16. A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations. Grillner P; Söderman M; Holmin S; Rodesch G Childs Nerv Syst; 2016 Apr; 32(4):709-15. PubMed ID: 26499346 [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. 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]
19. 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]
20. Histopathologic and ultrasound characteristics of cutaneous capillary malformations in a patient with capillary malformation-arteriovenous malformation syndrome. Kim C; Ko CJ; Baker KE; Antaya RJ Pediatr Dermatol; 2015; 32(1):128-31. PubMed ID: 23829194 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]