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Journal Abstract Search

134 related items for PubMed ID: 21145993

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  • 3. Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart syndrome.
    Bouyacoub Y, Zribi H, Azzouz H, Nasrallah F, Abdelaziz RB, Kacem M, Rekaya B, Messaoud O, Romdhane L, Charfeddine C, Bouziri M, Bouziri S, Tebib N, Mokni M, Kaabachi N, Boubaker S, Abdelhak S.
    Gene; 2013 Oct 15; 529(1):45-9. PubMed ID: 23954227
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  • 4. Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations.
    Charfeddine C, Monastiri K, Mokni M, Laadjimi A, Kaabachi N, Perin O, Nilges M, Kassar S, Keirallah M, Guediche MN, Kamoun MR, Tebib N, Ben Dridi MF, Boubaker S, Ben Osman A, Abdelhak S.
    Mol Genet Metab; 2006 Jun 15; 88(2):184-91. PubMed ID: 16574453
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  • 5. Richner-Hanhart syndrome: report of a case with a novel mutation of tyrosine aminotransferase.
    Minami-Hori M, Ishida-Yamamoto A, Katoh N, Takahashi H, Iizuka H.
    J Dermatol Sci; 2006 Jan 15; 41(1):82-4. PubMed ID: 16318910
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  • 6. Richner-Hanhart syndrome (tyrosinemia II): early diagnosis of an incomplete presentation with unusual findings.
    Viglizzo GM, Occella C, Bleidl D, Rongioletti F.
    Pediatr Dermatol; 2006 Jan 15; 23(3):259-61. PubMed ID: 16780475
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  • 7. Richner-Hanhart syndrome (tyrosinemia type II): a case report of delayed diagnosis with pseudodendritic corneal lesion.
    Iskeleli G, Bilgeç MD, Arici C, Atalay E, Oğreden T, Aydin A.
    Turk J Pediatr; 2011 Jan 15; 53(6):692-4. PubMed ID: 22389994
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  • 8. Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II.
    Pasternack SM, Betz RC, Brandrup F, Gade EF, Clemmensen O, Lund AM, Christensen E, Bygum A.
    Br J Dermatol; 2009 Mar 15; 160(3):704-6. PubMed ID: 18945316
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  • 10. Richner-Hanhart syndrome (tyrosinemia type II).
    Locatelli F, Puzenat E, Arnoux JB, Blanc D, Aubin F.
    Cutis; 2017 Dec 15; 100(6):E20-E22. PubMed ID: 29360903
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  • 13. [A case of Richner-Hanhart syndrome (tyrosinosis with ocular, cutaneous and mental manifestations].
    Goddé-Jolly D, Larregue M, Roussat B, Van Effenterre G.
    J Fr Ophtalmol; 1979 Jan 15; 2(1):23-8. PubMed ID: 34642
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  • 16. Richner-Hanhart syndrome (tyrosinemia type II). Case report and literature review.
    al-Hemidan AI, al-Hazzaa SA.
    Ophthalmic Genet; 1995 Mar 15; 16(1):21-6. PubMed ID: 7648039
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  • 19. [Tyrosinemia type II. Case report].
    Benatiya AI, Bouayed MA, Touiza E, Daoudi K, Bhalil S, Elmesbahi I, Tahri H.
    Bull Soc Belge Ophtalmol; 2005 Mar 15; (296):57-61. PubMed ID: 16050420
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  • 20. A large TAT deletion in a tyrosinaemia type II patient.
    Legarda M, Wlodarczyk K, Lage S, Andrade F, Kim GJ, Bausch E, Scherer G, Aldamiz-Echevarria LJ.
    Mol Genet Metab; 2011 Nov 15; 104(3):407-9. PubMed ID: 21636300
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