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.
156 related articles for article (PubMed ID: 9544843)
1. Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II. Hühn R; Stoermer H; Klingele B; Bausch E; Fois A; Farnetani M; Di Rocco M; Boué J; Kirk JM; Coleman R; Scherer G Hum Genet; 1998 Mar; 102(3):305-13. PubMed ID: 9544843 [TBL] [Abstract][Full Text] [Related]
2. Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. Natt E; Kida K; Odievre M; Di Rocco M; Scherer G Proc Natl Acad Sci U S A; 1992 Oct; 89(19):9297-301. PubMed ID: 1357662 [TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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; 529(1):45-9. PubMed ID: 23954227 [TBL] [Abstract][Full Text] [Related]
5. The human tyrosine aminotransferase gene: characterization of restriction fragment length polymorphisms and haplotype analysis in a family with tyrosinemia type II. Westphal EM; Natt E; Grimm T; Odievre M; Scherer G Hum Genet; 1988 Jul; 79(3):260-4. PubMed ID: 2456982 [TBL] [Abstract][Full Text] [Related]
6. Richner-Hanhart syndrome (tyrosinemia type II). Case report and literature review. al-Hemidan AI; al-Hazzaa SA Ophthalmic Genet; 1995 Mar; 16(1):21-6. PubMed ID: 7648039 [TBL] [Abstract][Full Text] [Related]
7. Richner-Hanhart syndrome and tyrosinemia type II. Hunziker N Dermatologica; 1980; 160(3):180-9. PubMed ID: 6446465 [TBL] [Abstract][Full Text] [Related]
8. TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping. Maydan G; Andresen BS; Madsen PP; Zeigler M; Raas-Rothschild A; Zlotogorski A; Gutman A; Korman SH J Inherit Metab Dis; 2006 Oct; 29(5):620-6. PubMed ID: 16917729 [TBL] [Abstract][Full Text] [Related]
9. Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1----q22.3 in a patient with tyrosinemia type II. Natt E; Westphal EM; Toth-Fejel SE; Magenis RE; Buist NR; Rettenmeier R; Scherer G Hum Genet; 1987 Dec; 77(4):352-8. PubMed ID: 2891604 [TBL] [Abstract][Full Text] [Related]
12. Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I. Grompe M; al-Dhalimy M Hum Mutat; 1993; 2(2):85-93. PubMed ID: 8318997 [TBL] [Abstract][Full Text] [Related]
13. The effect of diet on the ophthalmological, clinical and biochemical aspects of Richner-Hanhart syndrome: a morphological ultrastructural study of the cornea and the conjunctiva. Sammartino A; Cerbella R; Cecio A; De Crecchio G; Federico A; Fronterre A Int Ophthalmol; 1987 Aug; 10(4):203-12. PubMed ID: 3654059 [TBL] [Abstract][Full Text] [Related]
14. Comparison of the tyrosine aminotransferase cDNA and genomic DNA sequences of normal mink and mink affected with tyrosinemia type II. Leib SR; McGuire TC; Prieur DJ J Hered; 2005; 96(4):302-9. PubMed ID: 15817712 [TBL] [Abstract][Full Text] [Related]
15. Familial richner-Hanhart syndrome in Kuwait: twelve-year clinical reassessment by a multidisciplinary approach. el-Badramany MH; Fawzy AR; Farag TI Am J Med Genet; 1995 Oct; 60(5):353-5. PubMed ID: 8546145 [No Abstract] [Full Text] [Related]
16. Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome. Soares DC; Stroparo MN; Lian YC; Takakura CY; Wolf S; Betz R; Kim CA J Inherit Metab Dis; 2017 May; 40(3):461-462. PubMed ID: 27832414 [TBL] [Abstract][Full Text] [Related]
17. Tyrosinemia type II (Richner-Hanhart syndrome): a new mutation in the TAT gene. Culic V; Betz RC; Refke M; Fumic K; Pavelic J Eur J Med Genet; 2011; 54(3):205-8. PubMed ID: 21145993 [TBL] [Abstract][Full Text] [Related]
18. Hepatic enzymes of tyrosine metabolism in tyrosinemia II. Goldsmith LA; Thorpe J; Roe CR J Invest Dermatol; 1979 Dec; 73(6):530-2. PubMed ID: 41876 [TBL] [Abstract][Full Text] [Related]
19. Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship. Ploos van Amstel JK; Bergman AJ; van Beurden EA; Roijers JF; Peelen T; van den Berg IE; Poll-The BT; Kvittingen EA; Berger R Hum Genet; 1996 Jan; 97(1):51-9. PubMed ID: 8557261 [TBL] [Abstract][Full Text] [Related]
20. Molecular biology and molecular pathology of a newly described molecular disease--tyrosinemia II (the Richner-Hanhart syndrome). Goldsmith LA Exp Cell Biol; 1978; 46(1-2):96-113. PubMed ID: 23331 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]