Moyamoya vascular pattern in alagille syndrome

Pediatric Neurology

Volumn 47, Issue 2, 2012, Pages 125-128

  Rocha, Ruben ^a   Soro, Isabel ^a   Leitão, Andreia ^a   Silva, Maria Luís ^a   Leão, Miguel ^a  

^a HOSPITAL DE SÃO JOÃO   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

BILIRUBIN GLUCURONIDE; CHOLESTEROL; JAGGED1; NOTCH RECEPTOR; NUCLEOTIDE;

ALAGILLE SYNDROME; BILIRUBIN BLOOD LEVEL; CASE REPORT; CHILD; CHOLESTEROL BLOOD LEVEL; DOPPLER ECHOCARDIOGRAPHY; EMBRYOTOXICITY; EXON; FEMALE; GASTROESOPHAGEAL REFLUX; GENE; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; HEPATOMEGALY; HETEROZYGOSITY; HUMAN; INFANT; KIDNEY ARTERY STENOSIS; MAGNETIC RESONANCE ANGIOGRAPHY; MOYAMOYA DISEASE; MOYAMOYA VASCULAR PATTERN; PATENT DUCTUS ARTERIOSUS; PRESCHOOL CHILD; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; PUPIL DISEASE; REVIEW; SCHOOL CHILD; SIGNAL TRANSDUCTION; SYSTOLIC HEART MURMUR; ULTRASOUND;

EID: 84863324875     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2012.04.014     Document Type: Article

References (13)

1. P.D. Turnpenny, and S. Ellard Alagille syndrome: Pathogenesis, diagnosis and management Eur J Hum Genet 20 2012 251 257
2. S. Currie, A. Raghavan, R. Batty, D.J. Connolly, and P.D. Griffiths Childhood moyamoya disease and moyamoya syndrome: A pictorial review Pediatr Neurol 44 2011 401 413
3. I.D. Krantz, R. Smith, and R.P. Colliton Jagged1 mutations in patients ascertained with isolated congenital heart defects Am J Med Genet 84 1999 56 60
4. D.B. McElhinney, I.D. Krantz, and L. Bason Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome Circulation 106 2002 2567 2574
5. A. Rachmel, A. Zeharia, M. Neunman-Levin, R. Weitz, R. Shamir, and G. Dinari Alagille's syndrome associated with moyamoya disease Am J Med Genet 33 1989 89 91
6. A.R. Woolfenden, G.W. Albers, G.K. Steiberg, J.S. Hahn, D.C.C. Johnston, and K. Farrell Moyamoya syndrome in children with Alagille syndrome: Additional evidence of a vasculopathy Pediatrics 103 1999 505 508
7. S.E. Connor, D. Hewes, C. Ball, and J.M. Jarosz Alagille syndrome associated with angiographic moyamoya Childs Nerv Syst 18 2002 186 190
8. B.M. Kamath, N.B. Spinner, and K.M. Emerick Vascular anomalies in Alagille syndrome: A significant cause of morbidity and mortality Circulation 109 2004 1354 1358
9. K.M. Emerick, I.D. Krantz, and B.M. Kamath Intracranial vascular abnormalities in patients with Alagille syndrome J Pediatr Gastroenterol Nutr 41 2005 99 107
10. J.A. Alva, and M.L. Iruela-Arispe Notch signaling in vascular morphogenesis Curr Opin Hematol 11 2004 278 283
11. D. Morrow, S. Guha, and C. Sweeney Notch and vascular smooth muscle cell phenotype Circ Res 103 2008 1370 1382
12. E. Radi, P. Formichi, G. Di Maio, C. Battisti, and A. Federico Oxidative stress-induced apoptosis in two patients with Alagille syndrome J Neurol Sci 308 2011 49 56
13. S.J. Skehan, M. Hutchinson, and D.P. MacErlaine Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR findings AJNR 16 1995 2115 2119