These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

162 related articles for article (PubMed ID: 16309482)

  • 21. Richner-Hanhart syndrome (tyrosinemia type II).
    Locatelli F; Puzenat E; Arnoux JB; Blanc D; Aubin F
    Cutis; 2017 Dec; 100(6):E20-E22. PubMed ID: 29360903
    [No Abstract]   [Full Text] [Related]  

  • 22. Hereditary palmoplantar keratoderma with deafness.
    Fitzgerald DA; Verbov JL
    Br J Dermatol; 1996 May; 134(5):939-42. PubMed ID: 8736341
    [TBL] [Abstract][Full Text] [Related]  

  • 23. [Therapy for systemic metabolic disorders based on the detection of basic corneal landmarks in childhood].
    Lisch W; Pitz S; Geerling G
    Klin Monbl Augenheilkd; 2013 Jun; 230(6):575-81. PubMed ID: 23794426
    [TBL] [Abstract][Full Text] [Related]  

  • 24. The Richner-Hanhart syndrome: report of a case with associated tyrosinemia.
    Bienfang DC; Kuwabara T; Pueschel SM
    Arch Ophthalmol; 1976 Jul; 94(7):1133-7. PubMed ID: 180943
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Palmoplantar hyperkeratosis with a linear disposition along dermatoglyphics: a clue for an early diagnosis of tyrosinemia type II.
    Rossi LC; Santagada F; Besagni F; Cambiaghi S; Colombo E; Brena M; Tadini G
    G Ital Dermatol Venereol; 2017 Apr; 152(2):182-183. PubMed ID: 28166616
    [No Abstract]   [Full Text] [Related]  

  • 26. 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; 88(2):184-91. PubMed ID: 16574453
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Diagnosis of epidermolytic palmoplantar keratoderma in a very early stage by gene analysis.
    Shimazu K; Tsunemi Y; Hattori N; Adachi M; Imakado S; Saeki H; Komine M; Tamaki K
    J Dermatol; 2005 Oct; 32(10):859-61. PubMed ID: 16361744
    [No Abstract]   [Full Text] [Related]  

  • 28. [Unna-Thost syndrome].
    Fernández Regueiro R; Usero Bárcena T; Cuervo Blanco D; García Morán A
    Med Clin (Barc); 2016 May; 146(10):e59. PubMed ID: 26589735
    [No Abstract]   [Full Text] [Related]  

  • 29. [Herpetiform bilateral epithelial corneal dystrophy caused by Tyrosinemia (Richner-Hanhart-Syndrome) (author's transl)].
    Jaeger W; Gallasch G; Schnyder UW; Lutz P; Schmidt H
    Klin Monbl Augenheilkd; 1978 Oct; 173(4):506-15. PubMed ID: 153427
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.
    Peña-Quintana L; Scherer G; Curbelo-Estévez ML; Jiménez-Acosta F; Hartmann B; La Roche F; Meavilla-Olivas S; Pérez-Cerdá C; García-Segarra N; Giguère Y; Huppke P; Mitchell GA; Mönch E; Trump D; Vianey-Saban C; Trimble ER; Vitoria-Miñana I; Reyes-Suárez D; Ramírez-Lorenzo T; Tugores A
    Clin Genet; 2017 Sep; 92(3):306-317. PubMed ID: 28255985
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Familial tyrosinaemia with eye and skin lesions. Presentation of two cases.
    Bardelli AM; Borgogni P; Farnetani MA; Fois A; Frezzotti R; Mattei R; Molinelli M; Sargentini I
    Ophthalmologica; 1977; 175(1):5-9. PubMed ID: 20595
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Tyrosinemia type II in two cases previously reported as Richner-Hanhart syndrome.
    Balato N; Cusano F; Lembo G; Santoianni P
    Dermatologica; 1986; 173(2):66-74. PubMed ID: 2947825
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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; 160(3):704-6. PubMed ID: 18945316
    [No Abstract]   [Full Text] [Related]  

  • 34. Japanese case of Bothnian-type palmoplantar keratoderma with a novel missense mutation of p.Trp35Ser in extracellular loop A of aquaporin-5.
    Wada Y; Kusakabe M; Nagai M; Imai Y; Yamanishi K
    J Dermatol; 2019 Mar; 46(3):e104-e106. PubMed ID: 30144154
    [No Abstract]   [Full Text] [Related]  

  • 35. [Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family].
    Sun X; Yin XZ; Wu LQ; Shi XL; Hu ZM; Liu XP; Pan Q; Dai HP; Xia K; Xia JH
    Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2005 Oct; 30(5):521-4. PubMed ID: 16320579
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Palmoplantar keratoderma with sclerodactyly (Huriez syndrome).
    Patrizi A; Di Lernia V; Patrone P
    J Am Acad Dermatol; 1992 May; 26(5 Pt 2):855-7. PubMed ID: 1613149
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Photophobia accompanied by painful plantar punctate hyperkeratotic patches: Tyrosinemia type 2.
    Mohite AA; Abbott J
    Indian J Ophthalmol; 2018 Mar; 66(3):449. PubMed ID: 29480263
    [No Abstract]   [Full Text] [Related]  

  • 38. Acantholytic ectodermal dysplasia: clinicopathological study of a new desmosomal disorder.
    Winik BC; Asial RA; McGrath JA; South AP; Boente MC
    Br J Dermatol; 2009 Apr; 160(4):868-74. PubMed ID: 19067702
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Tyrosinaemia type II (Richner-Hanhart syndrome)--report of two cases treated with etretinate.
    Fraser NG; MacDonald J; Griffiths WA; McPhie JL
    Clin Exp Dermatol; 1987 Nov; 12(6):440-3. PubMed ID: 2974325
    [No Abstract]   [Full Text] [Related]  

  • 40. Oculocutaneous tyrosinemia: A case report with delayed diagnosis and excellent response to dietary modification.
    Tekin B; Yucelten D; Zeybek CA; Kiykim E; Wehner M; Betz RC; Toker AE
    Indian J Dermatol Venereol Leprol; 2015; 81(3):303-5. PubMed ID: 25784227
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.