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Journal Abstract Search

93 related items for PubMed ID: 1951448

  • 1. Townes-Brocks syndrome in two mentally retarded youngsters.
    Cameron TH, Lachiewicz AM, Aylsworth AS.
    Am J Med Genet; 1991 Oct 01; 41(1):1-4. PubMed ID: 1951448
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  • 2. Two cases of Townes-Brocks syndrome.
    Doray B, Langer B, Stoll C.
    Genet Couns; 1999 Oct 01; 10(4):359-67. PubMed ID: 10631923
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  • 3. Townes-Brocks syndrome.
    Powell CM, Michaelis RC.
    J Med Genet; 1999 Feb 01; 36(2):89-93. PubMed ID: 10051003
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  • 5. Townes-Brocks syndrome associated with mental retardation.
    Ishikiriyama S, Kudoh F, Shimojo N, Iwai J, Inoue T.
    Am J Med Genet; 1996 Jan 11; 61(2):191-2. PubMed ID: 8669452
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  • 6. Phenotypic variability in a family with Townes-Brocks syndrome.
    Sudo Y, Numakura C, Abe A, Aiba S, Matsunaga A, Hayasaka K.
    J Hum Genet; 2010 Aug 11; 55(8):550-1. PubMed ID: 20520617
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  • 7. [The Townes-Brocks syndrome in Spain: the epidemiological aspects in a consecutive series of cases].
    Martínez-Frías ML, Bermejo Sánchez E, Arroyo Carrera I, Pérez Fernández JL, Pardo Romero M, Burón Martínez E, Hernández Ramón F.
    An Esp Pediatr; 1999 Jan 11; 50(1):57-60. PubMed ID: 10083645
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  • 8. Description of a patient with difficult nosological classification: Goldenhar syndrome or Townes-Brocks syndrome?
    Gabrielli O, Bonifazi V, Offidani AM, Cellini A, Coppa GV, Giorgi PL.
    Minerva Pediatr; 1993 Nov 11; 45(11):459-62. PubMed ID: 8133838
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  • 9. Twenty-one-year-old male with congenital anomalies, obstructive uropathy and chronic renal failure: is this a case of Townes Brocks syndrome?
    Unuigbe EI, Azubike CA, Okaka EI, Osarenkhoe JO, Onuora VC.
    Niger J Clin Pract; 2007 Mar 11; 10(1):91-4. PubMed ID: 17668723
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  • 15. 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 11; 27(2):211-2. PubMed ID: 16429401
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  • 16. Townes-Brocks and Pendred syndrome in the same patient.
    Yano S, Watanabe Y, Yoshino M, Aida K, Kato H.
    Am J Med Genet; 1998 May 26; 77(4):330-1. PubMed ID: 9600745
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  • 17. Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects.
    Kiefer SM, Ohlemiller KK, Yang J, McDill BW, Kohlhase J, Rauchman M.
    Hum Mol Genet; 2003 Sep 01; 12(17):2221-7. PubMed ID: 12915476
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  • 18. SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.
    Botzenhart EM, Green A, Ilyina H, König R, Lowry RB, Lo IF, Shohat M, Burke L, McGaughran J, Chafai R, Pierquin G, Michaelis RC, Whiteford ML, Simola KO, Rösler B, Kohlhase J.
    Hum Mutat; 2005 Sep 01; 26(3):282. PubMed ID: 16088922
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  • 19. New syndrome: mixed hearing loss, mental deficiency, growth retardation, short clubbed digits, and EEG abnormalities in monozygous female twins.
    Pfeiffer RA.
    Am J Med Genet; 1987 Jul 01; 27(3):639-44. PubMed ID: 3631135
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  • 20. An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria.
    Knerr I, Zschocke J, Schellmoser S, Topf HG, Weigel C, Dötsch J, Rascher W.
    BMC Pediatr; 2005 Apr 05; 5(1):5. PubMed ID: 15811181
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