Volume 14; Issue 2

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Genetic Testing and Molecular Biomarkers
Volume 14; Issue 2

Genetic Testing and Molecular Biomarkers

Volume 14; Issue 2

1

Association of ADRB1 Gene Polymorphism with Atrial Fibrillation

Nicoulina, Svetlana, Shulman, Vladimir, Shesternya, Pavel, Chernova, Anna, Salmina, Alla, Issachenko, Oksana, Maksimov, Vladimir, Voevoda, Mikhail

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 787 KB

english, 2010

2

Allele Drop-Out in the MECP2 Gene Due to G-Quadruplex and i-Motif Sequences When Using Polymerase Chain Reaction-Based Diagnosis for Rett Syndrome

Saunders, Carol J., Friez, Michael J., Patterson, Melanie, Nzabi, Masha, Zhao, Weiwei, Bi, Chengpeng

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 475 KB

english, 2010

3

A c.1363C>T (p.R455X) Nonsense Mutation of RB1 Gene in a Southern Chinese Retinoblastoma Pedigree

Chen, Chun-Yue, Xu, Chen-Ming, Du, Zhen-Fang, Chen, Xiao-Ling, Ren, Guo-Liang, Zhang, Xian-Ning

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 2.48 MB

english, 2010

4

Analysis of CLCN2 as Candidate Gene for Megalencephalic Leukoencephalopathy with Subcortical Cysts

Scheper, Gert C., van Berkel, Carola G.M., Leisle, Lilia, de Groot, Koen E., Errami, Ab, Jentsch, Thomas J., Van der Knaap, Marjo S.

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 164 KB

english, 2010

5

Hypothesizing an Ancient Greek Origin of the GJB2 35delG Mutation: Can Science Meet History?

Kokotas, Haris, Grigoriadou, Maria, Villamar, Manuela, Giannoulia-Karantana, Aglaia, del Castillo, Ignacio, Petersen, Michael B.

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 80 KB

english, 2010

6

Detection of Large Rearrangements in the Cystic Fibrosis Transmembrane Conductance Regulator Gene by Multiplex Ligation-Dependent Probe Amplification Assay When Sequencing Fails to Detect Two Disease-Causing Mutations

Svensson, Annika M., Chou, Lan-Szu, Miller, Christine E., Robles, Jorge A., Swensen, Jeffrey J., Voelkerding, Karl V., Mao, Rong, Lyon, Elaine

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 71 KB

english, 2010

7

Increasing Role of Cytogenetics in Pediatric Practice

Dayakar, Seetha, Rani, Didala Swaroopa, Babu, Sidam Jangu, Srilatha, Komanduri, Jayanthi, Undamatla, Goud, Kalal Iravathy, Jain, Dharmendra, Raina, Vimarsh

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 6.29 MB

english, 2010

8

DNA Carrier Testing and Newborn Screening for Maple Syrup Urine Disease in Old Order Mennonite Communities

Carleton, Stephanie M., Peck, Dawn S., Grasela, Julie, Dietiker, Kristin L., Phillips, Charlotte L.

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 727 KB

english, 2010

9

Mutations of the Phenylalanine Hydroxylase Gene in Iranian Azeri Turkish Patients with Phenylketonuria

Bonyadi, Mortaza, Omrani, Omid, Moghanjoghi, Shiva Mohamadi, Shiva, Siyamak

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 65 KB

english, 2010

10

The Italian External Quality Control Program for Familial Adenomatous Polyposis of the Colon: Five Years of Experience

Censi, Federica, Falbo, Vincenzo, Floridia, Giovanna, Salvatore, Marco, Tosto, Fabrizio, De Rosa, Marina, Resta, Nicoletta, Izzo, Paola, Guanti, Ginevra, Taruscio, Domenica

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 101 KB

english, 2010

11

Correction

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

File:

PDF, 26 KB

2010

12

Standards for Personalized Medicine

Terry, Sharon F.

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 43 KB

english, 2010

13

Easy, Rapid, and Cost-Effective Methods for Identifying Carriers of Recurrent GJB2 Mutations Causing Nonsyndromic Hearing Impairment in the Greek Population

Kokotas, Haris, Grigoriadou, Maria, Hatzaki, Angeliki, Antoniadi, Thalia, Giannoulia-Karantana, Aglaia, Petersen, Michael B.

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 566 KB

english, 2010

14

MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever

El Gezery, Dalal A., Abou-Zeid, Abla A., Hashad, Doaa I., El-Sayegh, Hesham K.

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 77 KB

english, 2010

15

Delta-Sarcoglycan Gene Polymorphism Frequency in Amerindian and Mestizo Populations of Mexico

Ordoñez-Razo, Rosa María, Canizales-Quinteros, Samuel, Rodríguez-Cruz, Maricela, Peñaloza, Rosenda, Minauro-Sanmiguel, Fernando, Canto-Cetina, Thelma, Canto, Patricia, Coral-Vázquez, Ramón, Salamanca-

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 73 KB

english, 2010

16

Genomic and Linguistic Affinities: A Study of Allelic and Haplotype Diversity at DRD2 Locus Among the Tribes of Gujarat, Western India

Kshatriya, Gautam K., Aggarwal, Aastha, Khurana, Priyanka, Singh, Huidrom S., Italia, Yazdi M., Saraswathy, Kallur N., Ghosh, Pradeep K.

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 694 KB

english, 2010

17

Novel GNE Mutations in Hereditary Inclusion Body Myopathy Patients of Non-Middle Eastern Descent

Saechao, Chai, Valles-Ayoub, Yadira, Esfandiarifard, Saghi, Haghighatgoo, Arman, No, Daniel, Shook, Steven, Mendell, Jerry R., Rosales-Quintero, Xiomara, Felice, Kevin J., Morel, Chantal F., Pietruska

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 898 KB

english, 2010

18

First Report on HLA -DPB1 Gene Allelic Distribution in the General Lebanese Population

Shammaa, Dina, Khansa, Sara, Zaatari, Ghazi, Mahfouz, Rami A.R.

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 57 KB

english, 2010

19

Williams-Beuren Syndrome: Diagnosis by Polymorphic Markers

Sbruzzi, Ivanete C., Pereira, Alexandre C., Vasconcelos, Beatriz, Honjo, Raquel S., Krieger, José E., Kim, Chong A.

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 4.65 MB

english, 2010

20

Quantitative Fluorescence-Polymerase Chain Reaction Assay for the Detection of the Duplication of the Charcot Marie Tooth Disease Type 1A Critical Region

De Toffol, Simona, Bellone, Emilia, Dulcetti, Francesca, Ruggeri, Anna Maria, Maggio, Pietro Paolo, Pulimeno, Maria Rosaria, Mandich, Paola, Maggi, Federico, Simoni, Giuseppe, Grati, Francesca Romana

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 804 KB

english, 2010

21

Quality Control and Monitoring for the Isolation Process of Mesenchymal Stem Cells and Their Differentiation into Osteoblasts

Kawauchi, Satoshi, Terasaki, Hiroshi, Katano, Masayoshi, Murase, Junko, Masuda, Yoshiko, Tamura, Tomoaki, Shimadzu, Mitsunobu

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 23.79 MB

english, 2010