Volume 12; Issue 3

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Genetic Testing
Volume 12; Issue 3

Genetic Testing

Volume 12; Issue 3

1

Absence of H186R Polymorphism in Exon 4 of the APOBEC3G Gene among North Indian Individuals

Rathore, Anurag, Chatterjee, Animesh, Yamamoto, Naohiko, Dhole, Tapan N.

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 105 KB

english, 2008

2

The CFTR M470V Gene Variant as a Potential Modifier of COPD Severity: Study of Serbian Population

Stankovic, Marija, Nikolic, Aleksandra, Divac, Aleksandra, Tomovic, Andrija, Petrovic-Stanojevic, Natasa, Andjelic, Marina, Dopudja-Pantic, Vesna, Surlan, Mirjana, Vujicic, Ivan, Ponomarev, Dimitrije,

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 152 KB

english, 2008

3

CTLA4 Gene Polymorphisms in Children and Adolescents with Autoimmune Thyroid Diseases

Yeşilkaya, Ediz, Koç, Altuğ, Bideci, Aysun, Çamurdan, Orhun, Boyraz, Mehmet, Erkal, Özgür, Ergun, Mehmet Ali, Cinaz, Peyami

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 69 KB

english, 2008

4

Investigation of Association between Plasminogen Activator Inhibitor Type-1 ( PAI-1 ) Gene 4G/5G Polymorphism Frequency and Plasma PAI-1 Enzyme Activity in Patients with Acute Stroke

Kucukarabaci, Banu, Gunes, Hasan Veysi, Ozdemir, Gazi, Cosan, Didem, Ozbabalik, Demet, Dikmen, Miris, Degirmenci, Irfan

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 110 KB

english, 2008

5

Analysis of Familial Mediterranean Fever Gene Mutations in 202 Patients with Familial Mediterranean Fever

Solak, Mustafa, Yıldız, Handen, Köken, Reşit, Erdogan, Müggan, Eser, Betŭl, Şen, Tolga, Evirgen, Neslihan, Erdem, Solmaz, Arikan, Eurim

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 73 KB

english, 2008

6

Genetic Screening of the G2019S Mutation of the LRRK2 Gene in Southwest European, North African, and Sephardic Jewish Subjects

Change, Nathalie, Mercier, Géraldine, Lucotte, Gérard

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 146 KB

english, 2008

7

Correction

Journal:

Genetic Testing

Year:

2008

File:

PDF, 23 KB

2008

8

Colorectal Cancer Cases and Relatives of Cases Indicate Similar Willingness to Receive and Disclose Genetic Information

Ceballos, Rachel M., Newcomb, Polly A., Beasley, Jeannette M., Peterson, Scot, Templeton, Allyson, Hunt, Julie R.

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 95 KB

english, 2008

9

Estimation of Wilson's Disease Incidence and Carrier Frequency in the Korean Population by Screening ATP7B Major Mutations in Newborn Filter Papers Using the SYBR Green Intercalator Method Based on the Amplification Refractory Mutation System

Kim, Gu-Hwan, Yang, Jeong Yoon, Park, Jung-Young, Lee, Jin Joo, Kim, Ju Hyun, Yoo, Han-Wook

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 163 KB

english, 2008

10

Twenty-Four Novel Mutations Identified in a Cohort of 85 Patients by Direct Sequencing of the SLC3A1 and SLC7A9 Cystinuria Genes

Di Perna, Michele, Louizou, Eirini, Fischetti, Lucia, Dedoussis, George V.Z., Stanziale, Pietro, Michelakakis, Helen, Zelante, Leopoldo, Pras, Elon, Bisceglia, Luigi

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 84 KB

english, 2008

11

Bilateral Transverse Sinus Thrombosis Secondary to a Homozygous C677T MTHFR Gene Mutation

Kanaan, Ziad M., Mahfouz, Rami, Taher, Ali, Sawaya, Raja A.

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 978 KB

english, 2008

12

Explaining Behavior Change after Genetic Testing: The Problem of Collinearity between Test Results and Risk Estimates

Fanshawe, Thomas R., Prevost, A. Toby, Roberts, J. Scott, Green, Robert C., Armstrong, David, Marteau, Theresa M.

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 109 KB

english, 2008

13

BRCA1/2 in High-Risk African American Women with Breast Cancer: Providing Genetic Testing through Various Recruitment Strategies

Pal, Tuya, Vadaparampil, Susan, Betts, Judy, Miree, Cheryl, Li, Song, Narod, Steven A.

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 112 KB

english, 2008

14

Analysis of the CTNS Gene in Nephropathic Cystinosis Mexican Patients: Report of Four Novel Mutations and Identification of a False Positive 57-kb Deletion Genotype with LDM-2/Exon 4 Multiplex PCR Assay

Alcántara-Ortigoza, Miguel Ángel, Belmont-Martínez, Leticia, Vela-Amieva, Marcela, González-Del Angel, Ariadna

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 169 KB

english, 2008

15

Prenatal Diagnosis of Spinal Muscular Atrophy in Macedonian Families

Kocheva, Svetlana A., Plaseska-Karanfilska, Dijana, Trivodalieva, Svetlana, Kuturec, Marija, Vlaski-Jekic, Snezana, Efremov, Georgi Dimitar

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 84 KB

english, 2008

16

Novel TFAP2B Mutation in Nonsyndromic Patent Ductus Arteriosus

Khetyar, Maher, Syrris, Petros, Tinworth, Lorna, Abushaban, Lulu, Carter, Nicholas

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 109 KB

english, 2008

17

Complement Factor H Variant p.Y402H in Pseudoxanthoma Elasticum Patients

Götting, Christian, Hendig, Doris, Zarbock, Ralf, Szliska, Christiane, Kleesiek, Knut

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 84 KB

english, 2008

18

Ethnic Differences in the Frequency of the Cardioprotective C679X PCSK9 Mutation in a West African Population

Sirois, Francine, Gbeha, Elias, Sanni, Ambaliou, Chretien, Michel, Labuda, Damian, Mbikay, Majambu

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 64 KB

english, 2008

19

A Novel Mutation in EXT2 Gene in a Chinese Family with Hereditary Multiple Exostoses

Liu, Shi Guo, Lu, De Guo, Liu, Zhong Qiang, Liu, Chang Ying, Zhang, An Ying, Li, Zhen Qian, Ma, Xu

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 913 KB

english, 2008

20

p.Ala546 > Asp and p.Arg555 > Trp Mutations of TGFBI Gene and Their Clinical Manifestations in Two Large Chinese Families with Granular Corneal Dystrophy Type I

Yu, Ping, Gu, Yangshun, Jin, Fan, Hu, Rongrong, Chen, Lili, Yan, Xiaoyi, Yang, Yuehong, Qi, Ming

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 165 KB

english, 2008

21

The Prevalence of Consanguineous Marriages in an Underserved Area in Lebanon and Its Association with Congenital Anomalies

Kanaan, Ziad M., Mahfouz, Rami, Tamim, Hala

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 72 KB

english, 2008

22

Effect of Cyclosporin A and Tacrolimus on Sister Chromatid Exchange Frequency in Renal Transplant Patients

Öztürk, Şükrü, Ayna, Tülay K., Çefle, Kıvanç, Palanduz, Şükrü, Çiftçi, Hayriye Ş., Kaya, Selvi A., Diler, A. Sarper, Türkmen, Aydın, Gürtekin, Mehmet, Sever, Mehmet Şükrü, Çarin, Mahmut

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 65 KB

english, 2008

23

Multiple De Novo Mutations in the MECP2 Gene

Bunyan, David J., Robinson, David O.

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 57 KB

english, 2008

24

Assessment of Carriers' Frequency of a Novel MRE11 Mutation Responsible for the Rare Ataxia Telangiectasia-Like Disorder

Alsbeih, Ghazi, Al-Hadyan, Khaled, Al-Harbi, Najla

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 59 KB

english, 2008

25

The DLC-1 −29A/T Polymorphism Is Not Associated with Nasopharyngeal Carcinoma Risk in Chinese Population

Feng, Xiang-Ling, Zhou, Wen, Li, Hong, Fang, Wei-Yi, Zhou, Yi-Bo, Yao, Kai-Tai, Ren, Cai-Ping

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 119 KB

english, 2008

26

Screening of EDA1 Gene in X-Linked Anhidrotic Ectodermal Dysplasia Using DHPLC: Identification of 14 Novel Mutations in Italian Patients

Conte, Chiara, Gambardella, Stefano, Bulli, Cristina, Rinaldi, Fabrizio, Di Marino, Daniele, Falconi, Mattia, Bramanti, Placido, Desideri, Alessandro, Novelli, Giuseppe

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 24.13 MB

english, 2008

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