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Results: 1 to 20 of 119

1.

ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy.

Niu YF, Ni W, Wu ZY.

Gene. 2013 Jun 10;522(1):117-20. doi: 10.1016/j.gene.2013.03.067. Epub 2013 Apr 5.

PMID:
23566833
[PubMed - indexed for MEDLINE]
2.

Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.

Matsukawa T, Asheuer M, Takahashi Y, Goto J, Suzuki Y, Shimozawa N, Takano H, Onodera O, Nishizawa M, Aubourg P, Tsuji S.

Neurogenetics. 2011 Feb;12(1):41-50. doi: 10.1007/s10048-010-0253-6. Epub 2010 Jul 27.

PMID:
20661612
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy.

Pan H, Xiong H, Wu Y, Zhang YH, Bao XH, Jiang YW, Wu XR.

Pediatr Neurol. 2005 Aug;33(2):114-20.

PMID:
16087056
[PubMed - indexed for MEDLINE]
4.

Two novel multiple mutations in chinese patients with adrenoleukodystrophy.

Ke LF, Wang ZH, Huang LH, Xie HH, Lan FH.

Neuropediatrics. 2010 Jun;41(3):151-3. doi: 10.1055/s-0030-1265153. Epub 2010 Sep 21.

PMID:
20859837
[PubMed - indexed for MEDLINE]
5.

[Preliminary analysis of mutations in X-linked adrenoleukodystrophy gene(ABCD1) in Chinese patients].

Xiong H, Pan H, Zhang YH, Wu XR.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Oct;20(5):400-3. Chinese.

PMID:
14556192
[PubMed - indexed for MEDLINE]
6.

Mutational analyses of Taiwanese kindred with X-linked adrenoleukodystrophy.

Chiu HC, Liang JS, Wang JS, Lu JF.

Pediatr Neurol. 2006 Oct;35(4):250-6.

PMID:
16996397
[PubMed - indexed for MEDLINE]
7.

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.

Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV, Cutting GR, Wanders RJ, Moser HW.

Hum Mutat. 2001 Dec;18(6):499-515. Review.

PMID:
11748843
[PubMed - indexed for MEDLINE]
8.

A novel ABCD1 gene mutation in a Chinese-Taiwanese patient with adrenomyeloneuropathy.

Liu YT, Lin KH, Soong BW, Liao KK, Lin KP.

Pediatr Neurol. 2007 May;36(5):348-50.

PMID:
17509471
[PubMed - indexed for MEDLINE]
9.

[X-linked adrenoleukodystrophy ABCD1 gene mutation analysis in China].

Pan H, Xiong H, Zhang YH, Wu Y, Bao XH, Jiang YW, Wu XR.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Feb;21(1):1-4. Chinese.

PMID:
14767898
[PubMed - indexed for MEDLINE]
10.

A novel mutation in the ABCD1 gene of a Korean boy diagnosed with X-linked adrenoleukodystrophy.

Park JA, Jun KR, Han SH, Kim GH, Yoo HW, Hur YJ.

Gene. 2012 Apr 25;498(1):131-3. doi: 10.1016/j.gene.2012.01.063. Epub 2012 Feb 1.

PMID:
22326269
[PubMed - indexed for MEDLINE]
11.

[Clinical features and genotype-phenotype studies of 89 Chinese patients with X-linked adrenoleukodystrophy].

Ping LL, Bao XH, Wang AH, Pan H, Wu Y, Xiong H, Jiang YW, Qin J, Wu XR.

Zhonghua Er Ke Za Zhi. 2007 Mar;45(3):203-7. Chinese.

PMID:
17504626
[PubMed - indexed for MEDLINE]
12.

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]
13.

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]
14.

The genotype and phenotype studies of 40 Chinese patients with X-linked adrenoleukodystrophy (X-ALD).

Ping LL, Bao XH, Wang AH, Pan H, Wu Y, Xiong H, Zhang YH, Jiang YW, Qin J, Wu XR.

Beijing Da Xue Xue Bao. 2006 Feb 18;38(1):66-70.

PMID:
16415970
[PubMed - indexed for MEDLINE]
Free Article
15.

Identification of two de novo mutations in Chinese patients with X-linked adrenoleukodystrophy.

Wang Z, Ke L, Yan A, Zhu Z, Lan F.

Clin Chem Lab Med. 2008;46(12):1702-6. doi: 10.1515/CCLM.2008.331.

PMID:
18973459
[PubMed - indexed for MEDLINE]
16.

Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.

Montagna G, Di Biase A, Cappa M, Melone MA, Piantadosi C, Colabianchi D, Patrono C, Attori L, Cannelli N, Cotrufo R, Salvati S, Santorelli FM.

Hum Mutat. 2005 Feb;25(2):222.

PMID:
15643618
[PubMed - indexed for MEDLINE]
17.

X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype.

Maier EM, Mayerhofer PU, Asheuer M, Köhler W, Rothe M, Muntau AC, Roscher AA, Holzinger A, Aubourg P, Berger J.

Biochem Biophys Res Commun. 2008 Dec 5;377(1):176-80. doi: 10.1016/j.bbrc.2008.09.092. Epub 2008 Oct 1.

PMID:
18834860
[PubMed - indexed for MEDLINE]
18.

Mutational analyses on X-linked adrenoleukodystrophy reveal a novel cryptic splicing and three missense mutations in the ABCD1 gene.

Hung KL, Wang JS, Keng WT, Chen HJ, Liang JS, Ngu LH, Lu JF.

Pediatr Neurol. 2013 Sep;49(3):185-90. doi: 10.1016/j.pediatrneurol.2013.04.021. Epub 2013 Jul 5.

PMID:
23835273
[PubMed - indexed for MEDLINE]
19.

Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes.

Braun A, Ambach H, Kammerer S, Rolinski B, Stöckler S, Rabl W, Gärtner J, Zierz S, Roscher AA.

Am J Hum Genet. 1995 Apr;56(4):854-61.

PMID:
7717396
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.

Wang Y, Busin R, Reeves C, Bezman L, Raymond G, Toomer CJ, Watkins PA, Snowden A, Moser A, Naidu S, Bibat G, Hewson S, Tam K, Clarke JT, Charnas L, Stetten G, Karczeski B, Cutting G, Steinberg S.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):160-6. doi: 10.1016/j.ymgme.2011.05.016. Epub 2011 Jun 22.

PMID:
21700483
[PubMed - indexed for MEDLINE]

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