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Results: 1 to 20 of 235

1.

Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy.

Boehm CD, Cutting GR, Lachtermacher MB, Moser HW, Chong SS.

Mol Genet Metab. 1999 Feb;66(2):128-36.

PMID:
10068516
[PubMed - indexed for MEDLINE]
2.

Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.

Feigenbaum V, Lombard-Platet G, Guidoux S, Sarde CO, Mandel JL, Aubourg P.

Am J Hum Genet. 1996 Jun;58(6):1135-44.

PMID:
8651290
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Co-expression of mutated and normal adrenoleukodystrophy protein reduces protein function: implications for gene therapy of X-linked adrenoleukodystrophy.

Unterrainer G, Molzer B, Forss-Petter S, Berger J.

Hum Mol Genet. 2000 Nov 1;9(18):2609-16.

PMID:
11063720
[PubMed - indexed for MEDLINE]
Free Article
4.

Altered expression of ALDP in X-linked adrenoleukodystrophy.

Watkins PA, Gould SJ, Smith MA, Braiterman LT, Wei HM, Kok F, Moser AB, Moser HW, Smith KD.

Am J Hum Genet. 1995 Aug;57(2):292-301.

PMID:
7668254
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

[Screening for carrier and prenatal diagnosis of X-linked adrenoleukodystrophy].

Wang AH, Bao XH, Xiong H, Pan H, Wu Y, Zhang YH, Shi CY, Qin J, Wu XR.

Zhonghua Er Ke Za Zhi. 2005 May;43(5):345-9. Chinese.

PMID:
15924749
[PubMed - indexed for MEDLINE]
6.

Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice.

Forss-Petter S, Werner H, Berger J, Lassmann H, Molzer B, Schwab MH, Bernheimer H, Zimmermann F, Nave KA.

J Neurosci Res. 1997 Dec 1;50(5):829-43.

PMID:
9418970
[PubMed - indexed for MEDLINE]
7.

[Adrenoleukodystrophy and adrenomyeloneuropathy. Clinical biochemical and molecular genetic findings].

Vorgerd M, Benkmann HG, Tegenthoff M, Gal A, Malin JP.

Nervenarzt. 1998 Feb;69(2):174-9. German.

PMID:
9551465
[PubMed - indexed for MEDLINE]
8.

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.

Mosser J, Douar AM, Sarde CO, Kioschis P, Feil R, Moser H, Poustka AM, Mandel JL, Aubourg P.

Nature. 1993 Feb 25;361(6414):726-30.

PMID:
8441467
[PubMed - indexed for MEDLINE]
9.

Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy.

Netik A, Forss-Petter S, Holzinger A, Molzer B, Unterrainer G, Berger J.

Hum Mol Genet. 1999 May;8(5):907-13.

PMID:
10196381
[PubMed - indexed for MEDLINE]
Free Article
10.

Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection.

Braun A, Kammerer S, Ambach H, Roscher AA.

Hum Mutat. 1996;7(2):105-8.

PMID:
8829626
[PubMed - indexed for MEDLINE]
11.

Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.

Corzo D, Gibson W, Johnson K, Mitchell G, LePage G, Cox GF, Casey R, Zeiss C, Tyson H, Cutting GR, Raymond GV, Smith KD, Watkins PA, Moser AB, Moser HW, Steinberg SJ.

Am J Hum Genet. 2002 Jun;70(6):1520-31. Epub 2002 Apr 29.

PMID:
11992258
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Mutational analysis of patients with X-linked adrenoleukodystrophy.

Kok F, Neumann S, Sarde CO, Zheng S, Wu KH, Wei HM, Bergin J, Watkins PA, Gould S, Sack G, et al.

Hum Mutat. 1995;6(2):104-15.

PMID:
7581394
[PubMed - indexed for MEDLINE]
13.

Full length cDNA cloning, promoter sequence, and genomic organization of the human adrenoleukodystrophy related (ALDR) gene functionally redundant to the gene responsible for X-linked adrenoleukodystrophy.

Holzinger A, Mayerhofer P, Berger J, Lichtner P, Kammerer S, Roscher AA.

Biochem Biophys Res Commun. 1999 May 10;258(2):436-42.

PMID:
10329405
[PubMed - indexed for MEDLINE]
14.

DNA-based diagnostics for adrenoleukodystrophy in a large New Zealand family.

Rowland SA, Dodd A, Roche AL, Manilal S, Kennedy MA, Becroft DM, Tonkin S, Chapman C, Love DR.

N Z Med J. 1996 Aug 23;109(1028):312-5.

PMID:
8816721
[PubMed - indexed for MEDLINE]
15.

Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy.

Kemp S, Wei HM, Lu JF, Braiterman LT, McGuinness MC, Moser AB, Watkins PA, Smith KD.

Nat Med. 1998 Nov;4(11):1261-8.

PMID:
9809549
[PubMed - indexed for MEDLINE]
16.

X-linked adrenoleukodystrophy: phenotype distribution and expression of ALDP in Spanish kindreds.

Ruiz M, Coll MJ, Pàmpols T, Girós M.

Am J Med Genet. 1998 Apr 13;76(5):424-7.

PMID:
9556303
[PubMed - indexed for MEDLINE]
17.

Functional characterization of the adrenoleukodystrophy protein (ALDP) and disease pathogenesis.

Gärtner J, Dehmel T, Klusmann A, Roerig P.

Endocr Res. 2002 Nov;28(4):741-8.

PMID:
12530690
[PubMed - indexed for MEDLINE]
18.

Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).

Fuchs S, Sarde CO, Wedemann H, Schwinger E, Mandel JL, Gal A.

Hum Mol Genet. 1994 Oct;3(10):1903-5. No abstract available.

PMID:
7849723
[PubMed - indexed for MEDLINE]
19.

Splicing error due to a splice acceptor site mutation in the ALD gene identified in a Japanese childhood cerebral adrenoleukodystrophy case.

Yanagawa H, Nishio H, Takeshima Y, Saiki K, Nakamura H, Matsuo M.

Kobe J Med Sci. 1998 Feb;44(1):9-17.

PMID:
9846054
[PubMed - indexed for MEDLINE]
20.

ABCD1 translation-initiator mutation demonstrates genotype-phenotype correlation for AMN.

O'Neill GN, Aoki M, Brown RH Jr.

Neurology. 2001 Dec 11;57(11):1956-62.

PMID:
11739809
[PubMed - indexed for MEDLINE]

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