Volume 6; Issue 3

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Genetic Testing
Volume 6; Issue 3

Genetic Testing

Volume 6; Issue 3

1

A Cost-Effective Screening Test for Detecting AZF Microdeletions on the Human Y Chromosome

Pieri, Patricia de C., Pereira, Dirceu H., Glina, Sidney, Hallak, Jorge, McElreavey, Ken, Moreira-Filho, Carlos A.

Journal:

Genetic Testing

Année:

2002

Langue:

english

Fichier:

PDF, 196 KB

english, 2002

2

Rapid Automated Simultaneous Screening of (G1691A) Factor V, (G20210A) Prothrombin, and (C677T) Methylenetetrahydrofolate Reductase Variants by Multiplex PCR Using Fluorescence Scanning Technology

Saffroy, R., Lemoine, A., Haas, P., Tindiliere, F., Marion, S., Debuire, B.

Journal:

Genetic Testing

Année:

2002

Langue:

english

Fichier:

PDF, 309 KB

english, 2002

3

Mutation Screening of the EXT Genes in Patients with Hereditary Multiple Exostoses in Taiwan

Shi, Yi-Ru, Wu, Jer-Yuarn, Hsu, Yu-An, Lee, Cheng-Chun, Tsai, Chang-Hai, Tsai, Fuu-Jen

Journal:

Genetic Testing

Année:

2002

Langue:

english

Fichier:

PDF, 550 KB

english, 2002

4

Robertsonian Translocations: Mechanisms of Formation, Aneuploidy, and Uniparental Disomy and Diagnostic Considerations

Kim, Sung-Ryul, Shaffer, Lisa G.

Journal:

Genetic Testing

Année:

2002

Langue:

english

Fichier:

PDF, 144 KB

english, 2002

5

Accurate Determination of Ataxin-2 Polyglutamine Expansion in Patients with Intermediate-Range Repeats

Hussey, Jennifer, Lockhart, Paul J., Seltzer, William, Wszolek, Zbigniew K., Payami, Haydeh, Hanson, Melissa, Gwinn-Hardy, Katrina, Farrer, Matt

Journal:

Genetic Testing

Année:

2002

Langue:

english

Fichier:

PDF, 114 KB

english, 2002

6

Determination of Melting Temperature for Variant Detection Using dHPLC: A Comparison Between an Empirical Approach and DNA Melting Prediction Software

Rudolph, Joseph G., White, Stephanie, Sokolsky, Cara, Bozak, David, Mazzanti, Chiarra, Lipsky, Robert H., Goldman, David

Journal:

Genetic Testing

Année:

2002

Langue:

english

Fichier:

PDF, 384 KB

english, 2002

7

A Simplified Method for the Detection of Y Chromosome Microdeletions in Infertile Men Using a Multiplex Sequence-Tagged Site-Based Amplification

Charpenel, Christine, Guillon, Anne-Sophie, Dorson, Olivier, Boucly, Catherine, Mathieu, Bertille, Montagnon, Martine, Merlet, Françoise, Van Amerongen, Geneviève, Bisson, Jean Pierre, de Mazancourt,

Journal:

Genetic Testing

Année:

2002

Langue:

english

Fichier:

PDF, 156 KB

english, 2002

8

Motivations and Concerns of Women Considering Genetic Testing for Breast Cancer: A Comparison Between Affected and At-Risk Probands

Brandt, Rachael, Hartmann, Ellen, Ali, Zonera, Tucci, Rosemarie, Gilman, Paul

Journal:

Genetic Testing

Année:

2002

Langue:

english

Fichier:

PDF, 87 KB

english, 2002

9

A PCR-RFLP Test for Simultaneous Detection of Two Single-Nucleotide Insertions in the Connexin-26 Gene Promoter

Simsek, Mehmet, Al-Wardy, Nadia, Al-Khayat, Aisha, Al-Khabory, Mazin

Journal:

Genetic Testing

Année:

2002

Langue:

english

Fichier:

PDF, 256 KB

english, 2002

10

A PCR-RFLP Assay for the A716T Mutation in the WFS1 Gene, a Common Cause of Low-Frequency Sensorineural Hearing Loss

Sivakumaran, Theru A., Lesperance, Marci M.

Journal:

Genetic Testing

Année:

2002

Langue:

english

Fichier:

PDF, 112 KB

english, 2002

11

Preconception Cystic Fibrosis Carrier Couple Screening: Impact, Understanding, and Satisfaction

Henneman, L., Bramsen, I., van der Ploeg, H.M., ten Kate, L.P.

Journal:

Genetic Testing

Année:

2002

Langue:

english

Fichier:

PDF, 136 KB

english, 2002

12

Site-Directed Mutagenesis of Exon 5 of p53 : Purification, Analysis, and Validation of Amplicons for DHPLC

Narayanaswami, Gowri, Taylor, Paul D.

Journal:

Genetic Testing

Année:

2002

Langue:

english

Fichier:

PDF, 384 KB

english, 2002

13

Founder Mutation R245H of Sanfilippo Syndrome Type A in the Cayman Islands

Rady, Peter L., Surendran, Sankar, Vu, Ahn T., Hawkins, Judy C., Michals-Matalon, Kimberlee, Tyring, Stephan K., Merren, Joy, Kumar, Alla K., Matalon, Reuben

Journal:

Genetic Testing

Année:

2002

Langue:

english

Fichier:

PDF, 259 KB

english, 2002

14

Maternal Weight Correction for α-Fetoprotein: Mathematical Truncations Revisited

Evans, Mark I., Harrison, Harold, O'Brien, Joseph E., Huang, Xiaohua, Chervenak, Frank A., Henry, George P., Wapner, Ronald J.

Journal:

Genetic Testing

Année:

2002

Langue:

english

Fichier:

PDF, 70 KB

english, 2002