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N H Robertson

Explore the profile of N H Robertson including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 5
Citations 68
Followers 0
Related Specialties
Public Health
Molecular Biology
Pathology
Top 10 Co-Authors
R M Ferrie
C R Newton
S Little
L A Bradley
D A Johnson
G E Palomaki
H J Ambrose
D D Johnson
C A Chaparro
M B Webb
Published In
Am J Hum Genet
Genet Test
J Med Screen
Diagn Mol Pathol
Eur Respir J
Affiliations
Soon will be listed here.
Recent Articles
1.
Molecular characterization of a new alpha-1-antitrypsin M variant allele, Mwhitstable: implications for DNA-based diagnosis
Ambrose H, Chambers S, Mieli-Vergani G, Ferrie R, Newton C, Robertson N
Diagn Mol Pathol . 2000 Jan; 8(4):205-10. PMID: 10617277
The mother and second child from a family, already with one PI ZZ child, were typed PI MZ by isoelectric focusing and unexpectedly as PI ZZ using a commercial alpha-1-antitrypsin...
2.
A multiplex ARMS test for 10 cystic fibrosis (CF) mutations: evaluation in a prenatal CF screening program
Bradley L, Johnson D, Chaparro C, Robertson N, Ferrie R
Genet Test . 1999 Aug; 2(4):337-41. PMID: 10464613
In Maine, prenatal screening for cystic fibrosis (CF) is offered through primary care providers. Cheekbrush (buccal) samples are routinely tested for eight mutations by multiplex PCR amplification of five exons,...
3.
Development and validation of a screening test for 12 common mutations of the cystic fibrosis CFTR gene
Robertson N, Weston S, Kelly S, Duxbury N, Pearce S, Elsmore P, et al.
Eur Respir J . 1998 Sep; 12(2):477-82. PMID: 9727805
The results obtained using deoxyribonucleic acid (DNA) amplification-based tests must be accurate and reproducible. One such test that simultaneously detects any of 12 of the most common mutations of the...
4.
Hereditary haemochromatosis mutation frequencies in the general population
Bradley L, Johnson D, Palomaki G, Haddow J, Robertson N, Ferrie R
J Med Screen . 1998 May; 5(1):34-6. PMID: 9575458
Objectives: This study aims to expand our knowledge of the general population frequency of two mutations, C282Y and H63D, identified in the candidate gene for hereditary haemochromatosis, and to determine...
5.
Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene
Ferrie R, Schwarz M, Robertson N, Vaudin S, Super M, Malone G, et al.
Am J Hum Genet . 1992 Aug; 51(2):251-62. PMID: 1379414
The amplification refractory mutation system (ARMS) is a simple, rapid and reliable method for the detection of any mutation involving single base changes or small deletions. We have applied ARMS...