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Results: 1 to 20 of 98

1.

Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect.

Bliksrud YT, Brodtkorb E, Andresen PA, van den Berg IE, Kvittingen EA.

J Mol Med (Berl). 2005 May;83(5):406-10. Epub 2005 Mar 10.

PMID:
15759101
[PubMed - indexed for MEDLINE]
2.

Self-induced correction of the genetic defect in tyrosinemia type I.

Kvittingen EA, Rootwelt H, Berger R, Brandtzaeg P.

J Clin Invest. 1994 Oct;94(4):1657-61.

PMID:
7929843
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia.

Demers SI, Russo P, Lettre F, Tanguay RM.

Hum Pathol. 2003 Dec;34(12):1313-20.

PMID:
14691918
[PubMed - indexed for MEDLINE]
4.

Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1.

Aponte JL, Sega GA, Hauser LJ, Dhar MS, Withrow CM, Carpenter DA, Rinchik EM, Culiat CT, Johnson DK.

Proc Natl Acad Sci U S A. 2001 Jan 16;98(2):641-5.

PMID:
11209059
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene.

Rootwelt H, Kristensen T, Berger R, Høie K, Kvittingen EA.

Hum Genet. 1994 Sep;94(3):235-9.

PMID:
8076937
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
8557261
[PubMed - indexed for MEDLINE]
7.

Fumarylacetoacetase mutations in tyrosinaemia type I.

Rootwelt H, Høie K, Berger R, Kvittingen EA.

Hum Mutat. 1996;7(3):239-43.

PMID:
8829657
[PubMed - indexed for MEDLINE]
8.

A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

Dreumont N, Poudrier JA, Bergeron A, Levy HL, Baklouti F, Tanguay RM.

BMC Genet. 2001;2:9. Epub 2001 Jun 29.

PMID:
11476670
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.

Hahn SH, Krasnewich D, Brantly M, Kvittingen EA, Gahl WA.

Hum Mutat. 1995;6(1):66-73.

PMID:
7550234
[PubMed - indexed for MEDLINE]
10.

Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.

St-Louis M, Leclerc B, Laine J, Salo MK, Holmberg C, Tanguay RM.

Hum Mol Genet. 1994 Jan;3(1):69-72.

PMID:
8162054
[PubMed - indexed for MEDLINE]
11.

Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene.

Bliksrud YT, Brodtkorb E, Backe PH, Woldseth B, Rootwelt H.

Scand J Clin Lab Invest. 2012 Sep;72(5):369-73. doi: 10.3109/00365513.2012.676210. Epub 2012 May 4.

PMID:
22554029
[PubMed - indexed for MEDLINE]
12.

Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.

Rootwelt H, Chou J, Gahl WA, Berger R, Coşkun T, Brodtkorb E, Kvittingen EA.

Hum Genet. 1994 Jun;93(6):615-9.

PMID:
8005583
[PubMed - indexed for MEDLINE]
13.

Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.

Labelle Y, Phaneuf D, Leclerc B, Tanguay RM.

Hum Mol Genet. 1993 Jul;2(7):941-6.

PMID:
8364576
[PubMed - indexed for MEDLINE]
14.

Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.

Arranz JA, Piñol F, Kozak L, Pérez-Cerdá C, Cormand B, Ugarte M, Riudor E.

Hum Mutat. 2002 Sep;20(3):180-8.

PMID:
12203990
[PubMed - indexed for MEDLINE]
15.

Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.

Kvittingen EA, Rootwelt H, Brandtzaeg P, Bergan A, Berger R.

J Clin Invest. 1993 Apr;91(4):1816-21.

PMID:
8473520
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

No evidence of maternal cell colonization in reverted liver nodules of tyrosinemia type I patients.

Bergeron A, Lettre F, Russo P, Morissette J, Tanguay RM.

Gastroenterology. 2004 Nov;127(5):1381-5.

PMID:
15521007
[PubMed - indexed for MEDLINE]
17.

[Mutation analysis of FAH gene in patients with tyrosinemia type 1].

Dou LM, Fang LJ, Wang XH, Lu W, Chen R, Li LT, Zhao J, Wang JS.

Zhonghua Er Ke Za Zhi. 2013 Apr;51(4):302-7. Chinese.

PMID:
23927806
[PubMed - indexed for MEDLINE]
18.

Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.

Poudrier J, Lettre F, Scriver CR, Larochelle J, Tanguay RM.

Mol Genet Metab. 1998 Jun;64(2):119-25.

PMID:
9705236
[PubMed - indexed for MEDLINE]
19.

Gene symbol: FAH. Disease: tyrosinaemia 1.

Arranz A, Rigante D, Antuzzi D, Riudor E.

Hum Genet. 2005 Dec;118(3-4):537. No abstract available.

PMID:
16521249
[PubMed - indexed for MEDLINE]
20.

Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.

Tsuruta M, Mitsubuchi H, Mardy S, Miura Y, Hayashida Y, Kinugasa A, Ishitsu T, Matsuda I, Indo Y.

J Hum Genet. 1998;43(2):91-100.

PMID:
9621512
[PubMed - indexed for MEDLINE]

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