New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis

Clinical Chemistry

Volumn 47, Issue 5, 2001, Pages 838-843

  Badano, J L ^a   Inoue, K ^a   Katsanis, N ^a   Lupski, J R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 17P; CONTROLLED STUDY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DUPLICATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MARKER GENE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PULSED FIELD GEL ELECTROPHORESIS; TANDEM REPEAT;

EID: 0035046886     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/47.5.838     Document Type: Article

References (23)

1. Genetic and clinical aspects of Charcot-Marie-Tooth's disease
2. Charcot-Marie-Tooth peripheral neuropathies and related disorders
3. DNA duplication associated with Charcot-Marie-Tooth disease type 1A
4. Duplication in chromosome 17p11.2 in CharcotMarie-Tooth neuropathy type 1a (CMT1a)
5. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
6. The human COX1O gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs
7. Molecular mechanisms for CMT1A duplication and HNPP deletion
8. Charcot-Marie-Tooth disease: A gene-dosage effect
9. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
10. DNA diagnostics for Charcot-Marie-Tooth disease and related inherited neuropathies
11. Molecular diagnosis of CMT1A and HNPP Charcot-Marie-Tooth disease type 1A; and hereditary neuropathy with liability to pressure paisy
12. Diagnosis of CMT1A duplications HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory
13. Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization
14. Rapid real-time fluorescent PCR gene dosage test for the diagnosis of DNA duplications and deletions
15. Assignment of microsatellite sequences to the region duplicated in CMT1A (17p12): A useful tool for diagnosis
16. Detection of Charcot-Marie-Tooth type 1A duplication by the pokymerase chain reaction
17. PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A
18. Determination of gene dosage at the PMP22 and androgen receptor loci by quantitative PCR
19. Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies
20. Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication
21. The 1.4 Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes
22. Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees
23. Sex-dependent rearrangements resulting in CMT1A and HNPP