These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

107 related articles for article (PubMed ID: 17823326)

  • 1. Genomics. DNA duplications and deletions help determine health.
    Cohen J
    Science; 2007 Sep; 317(5843):1315-7. PubMed ID: 17823326
    [No Abstract]   [Full Text] [Related]  

  • 2. Segmental duplications: an 'expanding' role in genomic instability and disease.
    Emanuel BS; Shaikh TH
    Nat Rev Genet; 2001 Oct; 2(10):791-800. PubMed ID: 11584295
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Detection of duplications or deletions of the PMP22 gene using real-time quantitative PCR].
    Zhang FF; Tang BS; Shen Y; Zhao GH; Xia K; Zhao YQ; Chen B; Zhang C; Pan Q; Cai F; Liu XM; Luo W; Zhang RX; Guo P
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Oct; 22(5):537-40. PubMed ID: 16215943
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Charcot-Marie-Tooth type 1a in a child with Long QT syndrome.
    Losito L; De Rinaldis M; Gennaro L; Priori SG; Bloise R; Bassi MT; Bresolin N; Trabacca A
    Eur J Paediatr Neurol; 2009 Sep; 13(5):459-62. PubMed ID: 18799333
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of deletion and duplication genotypes of the PMP22 gene using PCR-RFLP, competitive multiplex PCR, and multiplex ligation-dependent probe amplification: a comparison.
    Hung CC; Lee CN; Lin CY; Cheng WF; Chen CA; Hsieh ST; Yang CC; Jong YJ; Su YN; Lin WL
    Electrophoresis; 2008 Feb; 29(3):618-25. PubMed ID: 18200636
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Rapid diagnosis of CMT1A duplications and HNPP deletions by multiplex microsatellite PCR.
    Choi BO; Kim J; Lee KL; Yu JS; Hwang JH; Chung KW
    Mol Cells; 2007 Feb; 23(1):39-48. PubMed ID: 17464210
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Analysis of 17p11.2 chromosome region rearrangements in CMT1 patients from Ukraine.
    Hryshchenko NV; Livshits LA
    Tsitol Genet; 2009; 43(1):36-41. PubMed ID: 19663313
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel human pathological mutations. Gene symbol: PMP22. Disease: Charcot-Marie-Tooth disease 1.
    Rautenstrauss B; Huehne K
    Hum Genet; 2007 Dec; 122(5):556. PubMed ID: 18383612
    [No Abstract]   [Full Text] [Related]  

  • 9. Application of variant-calling algorithms for Mendelian disorders: lessons from whole-exome sequencing in Charcot-Marie-Tooth disease.
    Hong YB; Jung J; Jung SC; Chung KW; Choi BO
    Clin Genet; 2014 Sep; 86(3):298-9. PubMed ID: 24131476
    [No Abstract]   [Full Text] [Related]  

  • 10. Novel human pathological mutations. Gene symbol: PMP22. Disease: Charcot-Marie-Tooth syndrome type 1A.
    Rautenstrauss B; Huehne K; Thiel C; Kraus C
    Hum Genet; 2007 Dec; 122(5):545. PubMed ID: 18380017
    [No Abstract]   [Full Text] [Related]  

  • 11. Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth syndrome type 1B.
    Rautenstrauss B; Huehne K; Thiel C; Kraus C
    Hum Genet; 2007 Dec; 122(5):545-6. PubMed ID: 18380018
    [No Abstract]   [Full Text] [Related]  

  • 12. Duplication analysis in Turkish Charcot-Marie-Tooth type 1A patients using short tandem repeat markers.
    Koç F; Güzel AI; Sarica Y; Kasap H
    Int J Neurosci; 2007 Nov; 117(11):1611-9. PubMed ID: 17917930
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genome structural variation and sporadic disease traits.
    Lupski JR
    Nat Genet; 2006 Sep; 38(9):974-6. PubMed ID: 16941003
    [No Abstract]   [Full Text] [Related]  

  • 14. Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.
    Saillour Y; Cossée M; Leturcq F; Vasson A; Beugnet C; Poirier K; Commere V; Sublemontier S; Viel M; Letourneur F; Barbot JC; Deburgrave N; Chelly J; Bienvenu T
    Hum Mutat; 2008 Sep; 29(9):1083-90. PubMed ID: 18683213
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Structural variation in the human genome contributes to variation of traits].
    Barøy T; Misceo D; Frengen E
    Tidsskr Nor Laegeforen; 2008 Sep; 128(17):1951-5. PubMed ID: 18787571
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Charcot-Marie-Tooth disease: lessons in genetic mechanisms.
    Lupski JR
    Mol Med; 1998 Jan; 4(1):3-11. PubMed ID: 9513184
    [No Abstract]   [Full Text] [Related]  

  • 17. Congenital pes cavus in a Charcot-Marie-tooth disease type 1A newborn.
    Fusco C; Frattini D; Scarano A; Giustina ED
    Pediatr Neurol; 2009 Jun; 40(6):461-4. PubMed ID: 19433282
    [TBL] [Abstract][Full Text] [Related]  

  • 18. High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis.
    Mei D; Lewis R; Parrini E; Lazarou LP; Marini C; Pilz DT; Guerrini R
    J Med Genet; 2008 Jun; 45(6):355-61. PubMed ID: 18285425
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions.
    Steinmann K; Kluwe L; Cooper DN; Brems H; De Raedt T; Legius E; Mautner VF; Kehrer-Sawatzki H
    Eur J Hum Genet; 2008 May; 16(5):572-80. PubMed ID: 18212816
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type X.
    Rautenstrauss B; Huehne K; Thiel C; Kraus C
    Hum Genet; 2007 Dec; 122(5):546. PubMed ID: 18380019
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 6.