Volume 5; Issue 2

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Genetic Testing
Volume 5; Issue 2

Genetic Testing

Volume 5; Issue 2

1

High Frequency of GJB2 Gene Mutations in Polish Patients with Prelingual Nonsyndromic Deafness

Wiszniewski, Wojciech, Sobieszczanska-Radoszewska, Lucja, Nowakowska-Szyrwinska, Ewa, Obersztyn, Ewa, Bal, Jerzy

Journal:

Genetic Testing

Year:

2001

Language:

english

File:

PDF, 60 KB

english, 2001

2

Papillary Renal Cell Carcinoma: Analysis of Germline Mutations in the MET Proto-Oncogene in a Clinic-Based Population

Lindor, Noralane M., Dechet, Christopher B., Greene, Mark H., Jenkins, Robert B., Zincke, M. Tanja, Weaver, Amy L., Wilson, Marcia, Zincke, Horst, Liu, Wanguo

Journal:

Genetic Testing

Year:

2001

Language:

english

File:

PDF, 126 KB

english, 2001

3

Meta-Analysis of GJB2 Mutation 35delG Frequencies in Europe

Lucotte, Gerard, Mercier, Geraldine

Journal:

Genetic Testing

Year:

2001

Language:

english

File:

PDF, 118 KB

english, 2001

4

Universal Newborn Screening for Hb H Disease in California

Lorey, Fred, Cunningham, George, Vichinsky, Elliott P., Lubin, Bertram H., Witkowska, H. Ewa, Matsunaga, Alison, Azimi, Mahin, Sherwin, John, Eastman, John, Farina, Francis, Waye, John S., Chui, David

Journal:

Genetic Testing

Year:

2001

Language:

english

File:

PDF, 163 KB

english, 2001

5

PCR-Based Methylation Testing for Prader-Willi or Angelman Syndromes Using Archived Fixed-Cell Suspensions

Velinov, M., Gu, H., Shah, K., Genovese, M., Duncan, C., Kupchik, G., Jenkins, E.C.

Journal:

Genetic Testing

Year:

2001

Language:

english

File:

PDF, 148 KB

english, 2001

6

Comment: How Many Are Too Many When Discussing Triplet Repeats in the FMR1 Gene and the Fragile X Syndrome?

Journal:

Genetic Testing

Year:

2001

Language:

english

File:

PDF, 57 KB

english, 2001

7

Meeting Announcement

Journal:

Genetic Testing

Year:

2001

File:

PDF, 26 KB

2001

8

A Rapid PCR-SSP Assay for the Hemochromatosis-Associated Tyr250Stop Mutation in the TFR2 Gene

Rivers, Charles A., Barton, James C., Acton, Ronald T.

Journal:

Genetic Testing

Year:

2001

Language:

english

File:

PDF, 140 KB

english, 2001

9

Psychosocial Impact of C282Y Mutation Testing for Hemochromatosis

Power, Tara E., Adams, Paul C.

Journal:

Genetic Testing

Year:

2001

Language:

english

File:

PDF, 98 KB

english, 2001

10

Genetic Hemochromatosis, a Celtic Disease: Is It Now Time for Population Screening?

Byrnes, V., Ryan, E., Barrett, S., Kenny, P., Mayne, P., Crowe, J.

Journal:

Genetic Testing

Year:

2001

Language:

english

File:

PDF, 80 KB

english, 2001

11

Chromosome 9

Journal:

Genetic Testing

Year:

2001

Language:

english

File:

PDF, 162 KB

english, 2001

12

Familial Dysautonomia and the Expansion of the Ashkenazi Jewish Carrier Screening Panel

Journal:

Genetic Testing

Year:

2001

Language:

english

File:

PDF, 69 KB

english, 2001

13

Carrier Screening for Cystic Fibrosis in a Prenatal Setting

Delvaux, I., van Tongerloo, A., Messiaen, L., Van Loon, C., De Bie, S., Mortier, G., De Paepe, A.

Journal:

Genetic Testing

Year:

2001

Language:

english

File:

PDF, 114 KB

english, 2001

14

Carrier Screening for Cystic Fibrosis among Maryland Obstetricians before and after the 1997 NIH Consensus Conference

Doksum, Teresa, Bernhardt, Barbara A., Holtzman, Neil A.

Journal:

Genetic Testing

Year:

2001

Language:

english

File:

PDF, 106 KB

english, 2001

15

Rapid Detection of the Two Common Mutations in Ashkenazi Jewish Patients with Mucolipidosis Type IV

Wang, Zhao-Hui, Zeng, Baijin, Pastores, Gregory M., Raksadawan, Natte, Ong, Elton, Kolodny, Edwin H.

Journal:

Genetic Testing

Year:

2001

Language:

english

File:

PDF, 165 KB

english, 2001

16

Compound Heterozygosity at the FMR1 Gene

Hegde, Madhuri R., Fawkner, Matthew, Chong, Belinda, McGaughran, Julie, Gilbert, Dale, Love, Donald R.

Journal:

Genetic Testing

Year:

2001

Language:

english

File:

PDF, 161 KB

english, 2001

17

The I1307K APC Polymorphism: Prevalence in Non-Ashkenazi Jews and Evidence for a Founder Effect

Shtoyerman-Chen, Rakefet, Friedman, Eitan, Figer, Arie, Carmel, Miri, Patael, Yael, Rath, Peter, Fidder, Herma H., Bar-Meir, Simon, Theodor, Livia

Journal:

Genetic Testing

Year:

2001

Language:

english

File:

PDF, 138 KB

english, 2001

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