Volume 7; Issue 3

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Genetic Testing
Volume 7; Issue 3

Genetic Testing

Volume 7; Issue 3

1

A Rapid and Noninvasive Method for Detecting Tissue-Limited Mosaicism: Detection of i(12)(p10) in Buccal Smear from a Child with Pallister-Killian Syndrome

Velagaleti, Gopalrao V. N., Tapper, Jill K., Rampy, Bill A., Zhang, Shuliu, Hawkins, Judy C., Lockhart, Lillian H.

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 243 KB

english, 2003

2

High Allelic Heterogeneity Between Afro-Brazilians and Euro-Brazilians Impacts Cystic Fibrosis Genetic Testing

Raskin, Salmo, Pereira, Lilian, Reis, Francisco, Rosario, Nelson A., Ludwig, Norberto, Valentim, Lairton, Phillips, John A., Allito, Bernice, Heim, Ruth A., Sugarman, Elaine A., Probst, Christian M.,

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 131 KB

english, 2003

3

Characterization of Genomic Variants in CSH1 and GH2 , Two Candidate Genes for Silver-Russell Syndrome in 17q24-q25

Prager, Sebastian, Wollmann, Hartmut A., Mergenthaler, Susanne, Mavany, Miriam, Eggermann, Katja, Ranke, Michael B., Eggermann, Thomas

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 120 KB

english, 2003

4

Denaturing High-Performance Liquid Chromatography for the Detection of Mutations and Polymorphisms in UBE3A

Bercovich, D., Beaudet, A. L.

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 190 KB

english, 2003

5

Denaturing High-Performance Liquid Chromatography Quickly and Reliably Detects Cardiac Ion Channel Mutations in Long QT Syndrome

Ning, Li, Moss, Arthur, Zareba, Woject, Robinson, Jennifer, Rosero, Spencer, Ryan, Dan, Qi, Ming

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 142 KB

english, 2003

6

Screening for DMD/BMD Deletion Carriers by Fluorescence In Situ Hybridization

Xiao, Yanping, Jiang, Xiurong, Wang, Renli

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 221 KB

english, 2003

7

Sex Chromosome Analysis in Turner Syndrome by a Pentaplex PCR Assay

Pelotti, S., Bini, C., Ceccardi, S., Ferri, G., Abbondanza, A., Greggio, N. A., Ponzano, E., Caenazzo, L.

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 153 KB

english, 2003

8

Validation of dHPLC for Molecular Diagnosis of β-Thalassemia in Southern Italy

Colosimo, Alessia, Guida, Valentina, Scolari, Anna, De Luca, Alessandro, Palka, Giandomenico, Rigoli, Luciana, Meo, Anna, Salpietro, Damiano Carmelo, Dallapiccola, Bruno

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 192 KB

english, 2003

9

Testing Participation in BRCA1/2 -Positive Families: Initiator Role of Index Cases

Blandy, Cécile, Chabal, Françoise, Stoppa-Lyonnet, Dominique, Julian-Reynier, Claire

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 140 KB

english, 2003

10

Rapid Prenatal Testing for Human β-Glucuronidase Deficiency (MPS VII)

Natowicz, Marvin R., Isman, Ferruh, Prence, Elizabeth M., Cedrone, Patricia, Allen, Jean J.

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 74 KB

english, 2003

11

High Incidence of Two Methylenetetrahydrofolate Reductase Mutations (C677T and A1298C) in Hispanics

Chowdary, Dondapati, Streck, Deanna, Schwalb, Marvin N., Dermody, James J.

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 82 KB

english, 2003

12

Plasminogen Activator Inhibitor-1 Polymorphism in Women with Pre-eclampsia

Häkli, Tanja, Romppanen, Eeva-Liisa, Hiltunen, Mikko, Helisalmi, Seppo, Punnonen, Kari, Heinonen, Seppo

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 88 KB

english, 2003

13

Genetic Testing for Hemochromatosis: Attitudes and Acceptability among Young and Older Adults

Hicken, Bret L., Calhoun, David C., Tucker, Diane C.

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 105 KB

english, 2003

14

Calcium Release from Sarcoplasmic Reticulum Is Facilitated in Human Myotubes Derived from Carriers of the Ryanodine Receptor Type 1 Mutations Ile2182Phe and Gly2375Ala

Wehner, M., Rueffert, H., Koenig, F., Olthoff, D.

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 290 KB

english, 2003