BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

139 related articles for article (PubMed ID: 16996397)

  • 1. 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. PubMed ID: 16996397
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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. PubMed ID: 23835273
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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. PubMed ID: 17509471
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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. PubMed ID: 16087056
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy.
    Chu SS; Ye J; Zhang HW; Han LS; Qiu WJ; Gao XL; Gu XF
    World J Pediatr; 2015 Nov; 11(4):366-73. PubMed ID: 26454440
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 498(1):131-3. PubMed ID: 22326269
    [TBL] [Abstract][Full Text] [Related]  

  • 7. ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy.
    Niu YF; Ni W; Wu ZY
    Gene; 2013 Jun; 522(1):117-20. PubMed ID: 23566833
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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. PubMed ID: 11438993
    [TBL] [Abstract][Full Text] [Related]  

  • 9. ABCD1 translation-initiator mutation demonstrates genotype-phenotype correlation for AMN.
    O'Neill GN; Aoki M; Brown RH
    Neurology; 2001 Dec; 57(11):1956-62. PubMed ID: 11739809
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Spinocerebellar variant of adrenoleukodystrophy with a novel ABCD1 gene mutation.
    Li JY; Hsu CC; Tsai CR
    J Neurol Sci; 2010 Mar; 290(1-2):163-5. PubMed ID: 20042197
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Adrenomyeloneuropathy: report of a new mutation in a French Canadian female.
    Dionne A; Brunet D; McCampbell A; Dupré N
    Can J Neurol Sci; 2005 May; 32(2):261-3. PubMed ID: 16018167
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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. PubMed ID: 20661612
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree.
    Wang Z; Yan A; Lin Y; Xie H; Zhou C; Lan F
    PLoS One; 2013; 8(3):e57977. PubMed ID: 23469258
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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. PubMed ID: 8651290
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical, biochemical, neuroimaging and molecular findings of X-linked Adrenoleukodystrophy patients in South China.
    Jiang MY; Cai YN; Liang CL; Peng MZ; Sheng HY; Fan LP; Lin RZ; Jiang H; Huang Y; Liu L
    Metab Brain Dis; 2015 Dec; 30(6):1439-44. PubMed ID: 26260157
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [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. PubMed ID: 14767898
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel missense and frameshift mutations in the adrenoleukodystrophy gene.
    Ueyama H; Yamano T; Shimada M; Ohkubo I
    Jpn J Hum Genet; 1996 Dec; 41(4):407-11. PubMed ID: 9088111
    [No Abstract]   [Full Text] [Related]  

  • 18. 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. PubMed ID: 20859837
    [TBL] [Abstract][Full Text] [Related]  

  • 19. X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patients.
    Amorosi CA; Myskóva H; Monti MR; Argaraña CE; Morita M; Kemp S; Dodelson de Kremer R; Dvoráková L; Oller de Ramírez AM
    PLoS One; 2012; 7(12):e52635. PubMed ID: 23300730
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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. PubMed ID: 18973459
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.