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Journal Abstract Search

148 related items for PubMed ID: 38899216

  • 1. Townes-Brocks Syndrome Revealed by Kidney Gene Panel Testing.
    Stein Q, Vostrizansky A, Magay Y, Jandeska S, Westemeyer M, Hendricks E, Pitman T, Hager MM, Anand A, Curry K, Bloom M, Al Haj Baddar N, Tabriziani H, Harrington M, Punj S.
    Kidney Int Rep; 2024 Jun; 9(6):1810-1816. PubMed ID: 38899216
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  • 2.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Graziano C, Olivucci G.
    ; 1993 Jun. PubMed ID: 20301618
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  • 4. A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome.
    Chi Y, Yao Y, Sun F, Zhang W, Zhang Z, Wang Y, Hao W.
    Ital J Pediatr; 2024 Jun 24; 50(1):121. PubMed ID: 38915054
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  • 6. Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report.
    Lin FJ, Lu W, Gale D, Yao Y, Zou R, Bian F, Jiang GR.
    Exp Ther Med; 2016 Apr 24; 11(4):1249-1252. PubMed ID: 27073431
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  • 7. A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family.
    Liu X, Wang H, Zhang Y, Zhang R, Zhang R, Shi X, Pan F, Qiao D, Xin Q, Liu Z, Zhang Y, Li C, Lang Y, Shao L.
    Nephrology (Carlton); 2024 Aug 24; 29(8):541-546. PubMed ID: 38584358
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  • 8. Townes-Brocks syndrome with adult renal impairment in a Chinese family: A case report.
    Wu J, Zhang J, Xiao TL, He T.
    World J Clin Cases; 2023 Aug 16; 11(23):5567-5572. PubMed ID: 37637690
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  • 10. A Genotyped Case of Townes-Brocks Syndrome with Absent Pulmonary Valve Syndrome from Turkey.
    Ilhan O, Gumus E, Hakan N, Istar H, Harmandar B, Olgun H, Karakus SC, Cullu N, Kohlhase J, Sutherland JD, Barrio R.
    J Pediatr Genet; 2024 Jun 16; 13(2):139-143. PubMed ID: 38721582
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  • 13. Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood.
    Faguer S, Pillet A, Chassaing N, Merhenberger M, Bernadet-Monrozies P, Guitard J, Chauveau D.
    Nephrol Dial Transplant; 2009 Apr 16; 24(4):1341-5. PubMed ID: 19204018
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  • 14. Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome.
    Bozal-Basterra L, Martín-Ruíz I, Pirone L, Liang Y, Sigurðsson JO, Gonzalez-Santamarta M, Giordano I, Gabicagogeascoa E, de Luca A, Rodríguez JA, Wilkie AOM, Kohlhase J, Eastwood D, Yale C, Olsen JV, Rauchman M, Anderson KV, Sutherland JD, Barrio R.
    Am J Hum Genet; 2018 Feb 01; 102(2):249-265. PubMed ID: 29395072
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  • 18. A mouse model of Townes-Brocks syndrome expressing a truncated mutant Sall1 protein is protected from acute kidney injury.
    Hirsch S, El-Achkar T, Robbins L, Basta J, Heitmeier M, Nishinakamura R, Rauchman M.
    Am J Physiol Renal Physiol; 2015 Nov 15; 309(10):F852-63. PubMed ID: 26311113
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  • 19. Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene.
    Salerno A, Kohlhase J, Kaplan BS.
    Pediatr Nephrol; 2000 Jan 15; 14(1):25-8. PubMed ID: 10654325
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  • 20. Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome.
    Borozdin W, Steinmann K, Albrecht B, Bottani A, Devriendt K, Leipoldt M, Kohlhase J.
    Hum Mutat; 2006 Feb 15; 27(2):211-2. PubMed ID: 16429401
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