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Results: 1 to 20 of 115

1.

Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism.

Swaans RJ, Rondot P, Renier WO, Van Den Heuvel LP, Steenbergen-Spanjers GC, Wevers RA.

Ann Hum Genet. 2000 Jan;64(Pt 1):25-31.

PMID:
11246459
[PubMed - indexed for MEDLINE]
2.

Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections.

Diepold K, Schütz B, Rostasy K, Wilken B, Hougaard P, Güttler F, Romstad A, Birk Møller L.

Mov Disord. 2005 Jun;20(6):764-7.

PMID:
15747353
[PubMed - indexed for MEDLINE]
3.

A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.

van den Heuvel LP, Luiten B, Smeitink JA, de Rijk-van Andel JF, Hyland K, Steenbergen-Spanjers GC, Janssen RJ, Wevers RA.

Hum Genet. 1998 Jun;102(6):644-6.

PMID:
9703425
[PubMed - indexed for MEDLINE]
4.

Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.

Bräutigam C, Steenbergen-Spanjers GC, Hoffmann GF, Dionisi-Vici C, van den Heuvel LP, Smeitink JA, Wevers RA.

Clin Chem. 1999 Dec;45(12):2073-8.

PMID:
10585338
[PubMed - indexed for MEDLINE]
Free Article
5.

A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder.

Janssen RJ, Wevers RA, Häussler M, Luyten JA, Steenbergen-Spanjers GC, Hoffmann GF, Nagatsu T, Van den Heuvel LP.

Ann Hum Genet. 2000 Sep;64(Pt 5):375-82.

PMID:
11281275
[PubMed - indexed for MEDLINE]
6.

Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

Dai H, Zhang X, Zhao X, Deng T, Dong B, Wang J, Li Y.

Mol Vis. 2008;14:2067-75. Epub 2008 Nov 17.

PMID:
19023448
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

Clot F, Grabli D, Cazeneuve C, Roze E, Castelnau P, Chabrol B, Landrieu P, Nguyen K, Ponsot G, Abada M, Doummar D, Damier P, Gil R, Thobois S, Ward AJ, Hutchinson M, Toutain A, Picard F, Camuzat A, Fedirko E, Sân C, Bouteiller D, LeGuern E, Durr A, Vidailhet M, Brice A; French Dystonia Network.

Brain. 2009 Jul;132(Pt 7):1753-63. doi: 10.1093/brain/awp084. Epub 2009 Jun 2.

PMID:
19491146
[PubMed - indexed for MEDLINE]
Free Article
8.

Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.

Lüdecke B, Knappskog PM, Clayton PT, Surtees RA, Clelland JD, Heales SJ, Brand MP, Bartholomé K, Flatmark T.

Hum Mol Genet. 1996 Jul;5(7):1023-8.

PMID:
8817341
[PubMed - indexed for MEDLINE]
Free Article
9.

Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease.

Hertz JM, Ostergaard K, Juncker I, Pedersen S, Romstad A, Møller LB, Güttler F, Dupont E.

Eur J Neurol. 2006 Apr;13(4):385-90.

PMID:
16643317
[PubMed - indexed for MEDLINE]
10.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
[PubMed - indexed for MEDLINE]
11.

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.

Thiselton DL, Alexander C, Taanman JW, Brooks S, Rosenberg T, Eiberg H, Andreasson S, Van Regemorter N, Munier FL, Moore AT, Bhattacharya SS, Votruba M.

Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1715-24.

PMID:
12036970
[PubMed - indexed for MEDLINE]
Free Article
12.

Parkin mutations and early-onset parkinsonism in a Taiwanese cohort.

Wu RM, Bounds R, Lincoln S, Hulihan M, Lin CH, Hwu WL, Chen J, Gwinn-Hardy K, Farrer M.

Arch Neurol. 2005 Jan;62(1):82-7.

PMID:
15642853
[PubMed - indexed for MEDLINE]
13.

Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.

Edelheit O, Hanukoglu I, Gizewska M, Kandemir N, Tenenbaum-Rakover Y, Yurdakök M, Zajaczek S, Hanukoglu A.

Clin Endocrinol (Oxf). 2005 May;62(5):547-53. Review.

PMID:
15853823
[PubMed - indexed for MEDLINE]
14.

[Genotype and phenotype correlation in Chinese patients with Wilson's Disease].

Liu XQ, Zhang YF, Liu TT, Gu XF, Hsiao KJ, Bao KR, Yu LH.

Zhonghua Er Ke Za Zhi. 2003 Jan;41(1):35-8. Chinese.

PMID:
14761325
[PubMed - indexed for MEDLINE]
15.

[TH gene mutation in Chinese patients with autosomal recessive dopa-responsive dystonia].

Liu W, Tang BS, Cao GF, Chen T, Li HY.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Oct;21(5):452-4. Chinese.

PMID:
15476168
[PubMed - indexed for MEDLINE]
16.

Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.

Dvoráková L, Storkánová G, Unterrainer G, Hujová J, Kmoch S, Zeman J, Hrebícek M, Berger J.

Hum Mutat. 2001;18(1):52-60.

PMID:
11438993
[PubMed - indexed for MEDLINE]
17.

Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.

Chávez B, Méndez JP, Ulloa-Aguirre A, Larrea F, Vilchis F.

J Hum Genet. 2001;46(10):560-5.

PMID:
11587068
[PubMed - indexed for MEDLINE]
18.

Molecular findings in familial Parkinson disease in Spain.

Hoenicka J, Vidal L, Morales B, Ampuero I, Jiménez-Jiménez FJ, Berciano J, del Ser T, Jiménez A, Ruíz PG, de Yébenes JG.

Arch Neurol. 2002 Jun;59(6):966-70.

PMID:
12056932
[PubMed - indexed for MEDLINE]
19.

[Analysis of gene mutation in patients with tuberous sclerosis complex with polymerase chain reaction-single strand conformation polymorphism].

Feng JH, Ding MP, Yang CW.

Zhonghua Er Ke Za Zhi. 2003 Mar;41(3):223-6. Chinese.

PMID:
14756965
[PubMed - indexed for MEDLINE]
20.

Simple PCR heteroduplex, SSCP mutation screening methods for the detection of novel catalase mutations in Hungarian patients with type 2 diabetes mellitus.

Vitai M, Fátrai S, Rass P, Csordás M, Tarnai I.

Clin Chem Lab Med. 2005;43(12):1346-50.

PMID:
16309371
[PubMed - indexed for MEDLINE]

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