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374 related items for PubMed ID: 7538263

  • 1. Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders.
    Lewis SM, Roberts EA, Marcon MA, Harvey E, Phillips MJ, Chuang SA, Buncic JR, Clarke JT.
    Am J Med Genet; 1994 Oct 01; 52(4):419-26. PubMed ID: 7538263
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  • 2. Joubert syndrome: an affected female with bilateral colobomata.
    Dahlstrom JE, Cookman J, Jain S.
    Pathology; 2000 Nov 01; 32(4):283-5. PubMed ID: 11186426
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  • 3. COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation.
    Gentile M, Di Carlo A, Susca F, Gambotto A, Caruso ML, Panella C, Vajro P, Guanti G.
    Am J Med Genet; 1996 Aug 23; 64(3):514-20. PubMed ID: 8862632
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  • 6. A case of cerebello-oculo-renal syndrome with situs inversus totalis: a new phenotype.
    Aydinoz S, Ersen A, Karademir F, Suleymanoglu S, Ozkaya H, Gocmen I.
    J Child Neurol; 2007 Feb 23; 22(2):204-7. PubMed ID: 17621483
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  • 11. Neuroepithelial cysts in a patient with Joubert syndrome plus renal cysts.
    Marsh SE, Grattan-Smith P, Pereira J, Barkovich AJ, Gleeson JG.
    J Child Neurol; 2004 Mar 23; 19(3):227-31. PubMed ID: 15119486
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  • 12. Renal insufficiency is a component of COACH syndrome.
    Kumar S, Rankin R.
    Am J Med Genet; 1996 Jan 11; 61(2):122-6. PubMed ID: 8669436
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  • 15. Cerebellar vermis defect, oligophrenia, congenital ataxia, and hepatic fibrocirrhosis without coloboma and renal abnormalities: report of three cases.
    Coppola G, Vajro P, De Virgiliis S, Ciccimarra E, Boccone L, Pascotto A.
    Neuropediatrics; 2002 Aug 11; 33(4):180-5. PubMed ID: 12368986
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  • 16. Clinical features and revised diagnostic criteria in Joubert syndrome.
    Maria BL, Boltshauser E, Palmer SC, Tran TX.
    J Child Neurol; 1999 Sep 11; 14(9):583-90; discussion 590-1. PubMed ID: 10488903
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  • 18. Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis.
    Verloes A, Lambotte C.
    Am J Med Genet; 1989 Feb 11; 32(2):227-32. PubMed ID: 2929661
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  • 19. COACH syndrome associated with multifocal liver tumors.
    Kirchner GI, Wagner S, Flemming P, Bleck JS, Gebel M, Schedel I, Schüler A, Galanski M, Manns MP.
    Am J Gastroenterol; 2002 Oct 11; 97(10):2664-9. PubMed ID: 12385458
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  • 20. Joubert syndrome associated with Leber amaurosis and multicystic kidneys.
    Ivarsson SA, Bjerre I, Brun A, Ljungberg O, Maly E, Taylor I.
    Am J Med Genet; 1993 Mar 01; 45(5):542-7. PubMed ID: 8456821
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