Volume 13; Issue 4

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Genetic Testing and Molecular Biomarkers
Volume 13; Issue 4

Genetic Testing and Molecular Biomarkers

Volume 13; Issue 4

1

False Homozygous Deletions of SMN1 Exon 7 Using Dra I PCR-RFLP Caused by a Novel Mutation in Spinal Muscular Atrophy

Kang, Seong-Ho, Cho, Sung Im, Chae, Jong-Hee, Chung, Kyu Nam, Ra, Eun Kyung, Kim, So Yeon, Seong, Moon-Woo, Kim, Ji Yeon, Park, Sung Sup

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 160 KB

english, 2009

2

Haplotype of the C61G BRCA1 Mutation in Polish and Jewish Individuals

Kaufman, Bella, Laitman, Yael, Gronwald, Jacek, Lubinski, Jan, Friedman, Eitan

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 260 KB

english, 2009

3

Plasminogen Activator Inhibitor Type-1 Gene 4G/5G Polymorphism in Turkish Adult Patients with Asthma

Cosan, Didem, Kurt, Emel, Kurt, Hulyam, Degirmenci, Irfan, Kuçukarabaci, Banu, Metintas, Muzaffer, Kucuk, Meral Urhan, Gunes, Hasan Veysi, Colak, Ertugrul

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 74 KB

english, 2009

4

The Gene of Bloom's Syndrome: An Autosomal Recessive Disorder with Male Dominance

Aslan, Deniz, Ezgu, Fatih Suheyl

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 45 KB

english, 2009

5

MTHFR C677T Genotype Frequency in Patients of Middle Eastern Descent as Determined by Real-Time PCR and Melting Curve Analysis

Haghighatgoo, Arman, Valles-Ayoub, Yadira, Saechao, Chai, Esfandiarifard, Saghi, Martinez, Sarah L., Pietruszka, Marvin, Darvish, Daniel

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 25.31 MB

english, 2009

6

Gene-Gene Interactions Among Genetic Variants from Obesity Candidate Genes for Nonobese and Obese Populations in Type 2 Diabetes

Lin, Eugene, Pei, Dee, Huang, Yi-Jen, Hsieh, Chang-Hsun, Wu, Lawrence Shih-Hsin

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 116 KB

english, 2009

7

G6PD Mediterranean S188F Codon Mutation Is Common Among Saudi Sickle Cell Patients and Increases the Risk of Stroke

Hellani, Ali, Al-Akoum, Siham, Abu-Amero, Khaled K.

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 78 KB

english, 2009

8

Prenatal Identification of a Novel R937P L1CAM Missense Mutation

Wilson, Patrick L., Kattman, Brandi Blaisdell, Mulvihill, John J., Li, Shibo, Wilkins, Jesse, Wagner, Andrew F., Goodman, Jean R.

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 5.65 MB

english, 2009

9

An Indian Boy with Nephropathic Cystinosis: A Case Report and Molecular Analysis of CTNS Mutation

Tang, Sha, Danda, Sumita, Zoleikhaeian, Mehrdad, Simon, Mariella, Huang, Taosheng

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 3.50 MB

english, 2009

10

To Take or Not to Take Genetic Carrier Tests: Personal Characteristics Associated with Taking Recommended and Nonrecommended Tests

Barnoy, Sivia, Zelikaman, Lilian, Bar-Tal, Yoram

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 91 KB

english, 2009

11

Genetic Testing for Inflammatory Bowel Disease: Focus Group Analysis of Patients and Family Members

Lewis, Jeffrey R., Konda, Vani, Rubin, David T.

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 107 KB

english, 2009

12

Identification of Different Genomic Deletions and One Duplication in the Dysferlin Gene Using Multiplex Ligation-Dependent Probe Amplification and Genomic Quantitative PCR

Krahn, Martin, Borges, Ana, Navarro, Claire, Schuit, Robert, Stojkovic, Tanya, Torrente, Yvan, Wein, Nicolas, Pécheux, Christophe, Lévy, Nicolas

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 69 KB

english, 2009

13

GPR143 Mutational Analysis in Two Italian Families with X-Linked Ocular Albinism

Micale, Lucia, Augello, Bartolomeo, Fusco, Carmela, Turturo, Maria Giuseppina, Granatiero, Matteo, Piemontese, Maria Rosaria, Zelante, Leopoldo, Cecconi, Antonella, Merla, Giuseppe

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 16.78 MB

english, 2009

14

Transparency, Openness, and Genetic Testing

Zonno, Kristi D., Terry, Sharon F.

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

15

Factor V Leiden and the Risk of Venous Thrombosis, Myocardial Infarction, and Stroke: A Case–Control Study in Venezuela

Pestana, Carolina I., Torres, Argimiro, Blanco, Susana, Rojas, María J., Méndez, Carlos, López, José L., de Bosch, Norma B., Porco, Antonietta

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 99 KB

english, 2009

16

Attitudes and Anticipated Reactions to Genetic Testing for Cancer Among Patients in Mexico City

Romero-Hidalgo, Sandra, Urraca, Nora, Parra, Dionisio, Villa, Antonio R., Lisker, Rubén, Carnevale, Alessandra

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 89 KB

english, 2009

17

Distribution of Cytokine Gene Polymorphisms in the General Lebanese Population: The First Report

Mahfouz, Rami A.R., Shammaa, Dina, Harb, Naim, Halas, Hussein, Sarafian, Kevork, Zaatari, Ghazi, Bazarbachi, Ali

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 72 KB

english, 2009

18

Analysis of PTEN Gene Mutations in a Turkish Patient with Cowden Syndrome

Soysal, Yasemin, Tate, Genshu, Polat, Coşkun, Polat, Nevriye, Aktepe, Fatma, Sıvacı, Yaşar, Imirzalıoglu, Necat

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 9.56 MB

english, 2009

19

Prevalence of the C677T Single-Nucleotide Polymorphism in the Methylenetetrahydrofolate Reductase Gene Among Pakistani Ethnic Groups

Mansoor, Atika, Mazhar, Kehkashan, Ali, Lubna, Muazzam, Ambreen G., Siddiqi, Saima, Usman, Sooda

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 23.83 MB

english, 2009

20

X;7 Translocation in an Indian Woman with Hypergonadotropic Amenorrhea—A Case Report

Vasu, Vidya Rendheer, Chandra, Nallathambi, Santhiya, Sathiyavedu Thyagarajan

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 1.35 MB

english, 2009

21

MICA Gene Polymorphism Not Associated with Nonsyndromic Cleft Lip with or without Cleft Palate in the Japanese Population?

Tamaki, Shigehiro, Kawakami, Masayoshi, Yamanaka, Yasutsugu, Imai, Yuichiro, Kawashima, Wataru, Yamamoto, Kazuhiko, Kasuda, Shogo, Hatake, Katsuhiko, Kirita, Tadaaki

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 68 KB

english, 2009

22

Detection of Non-ΔGT NCF-1 Mutations in Chronic Granulomatous Disease

Jakobsen, Marianne Antonius, Pedersen, Svend Stenvang, Barington, Torben

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 268 KB

english, 2009

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