Volume 118; Issue 3-4

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Human Genetics
Volume 118; Issue 3-4

Human Genetics

Volume 118; Issue 3-4

1

Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers: application to diverse and admixed populations and implications for clinical epidemiology and forensic medicine

Nan Yang, Hongzhe Li, Lindsey A. Criswell, Peter K. Gregersen, Marta E. Alarcon-Riquelme, Rick Kittles, Russell Shigeta, Gabriel Silva, Pragna I. Patel, John W. Belmont, Michael F. Seldin

Journal:

Year:

2005

Language:

english

File:

PDF, 686 KB

english, 2005

2

Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene

Yoko Kawai, Akihiko Moriyama, Kiyofumi Asai, Carrie M. Coleman-Campbell, Satoshi Sumi, Hideko Morishita, Mariko Suchi

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Year:

2005

Language:

english

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PDF, 154 KB

english, 2005

3

Human gene mutations

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2005

File:

PDF, 90 KB

2005

4

Generation or birth cohort effect on cancer risk in Li–Fraumeni syndrome

Barry W. Brown, Tracy J. Costello, Shih-Jen Hwang, Louise C. Strong

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Year:

2005

Language:

english

File:

PDF, 248 KB

english, 2005

5

A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population

Agnes L. Nishimura, Ammar Al-Chalabi, Mayana Zatz

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Year:

2005

Language:

english

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PDF, 153 KB

english, 2005

6

Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1

Helmut Grasberger, Martine Vaxillaire, Silvana Pannain, John C. Beck, Aviva Mimouni-Bloch, Vincent Vatin, Gilbert Vassart, Philippe Froguel, Samuel Refetoff

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Year:

2005

Language:

english

File:

PDF, 270 KB

english, 2005

7

Impaired transcriptional upregulation of Parkin promoter variant under oxidative stress and proteasomal inhibition: clinical association

E. K. Tan, K. Y. Puong, D. K. Y. Chan, K. Yew, S. Fook-Chong, H. Shen, P. W. Ng, J. Woo, Y. Yuen, R. Pavanni, M. C. Wong, K. Puvan, Y. Zhao

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Year:

2005

Language:

english

File:

PDF, 220 KB

english, 2005

8

Geography is a better determinant of human genetic differentiation than ethnicity

Andrea Manica, Franck Prugnolle, François Balloux

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2005

Language:

english

File:

PDF, 372 KB

english, 2005

9

Novel human pathological mutations

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2005

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english

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PDF, 141 KB

english, 2005

10

Novel human pathological mutations

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2005

Language:

english

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PDF, 220 KB

english, 2005

11

Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR

Cynthia Helms, Nancy L. Saccone, Li Cao, Jil A. Wright. Daw, Kai Cao, Tony M. Hsu, Patricia Taillon-Miller, Shenghui Duan, Derek Gordon, Brandon Pierce, Jurg Ott, John Rice, Marcelo A. Fernandez-Vina,

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Year:

2005

Language:

english

File:

PDF, 418 KB

english, 2005

12

Linkage methods in human genetics before the computer

A. W. F. Edwards

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Year:

2005

Language:

english

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PDF, 748 KB

english, 2005

13

Correction of cellular phenotypes of Hutchinson-Gilford Progeria cells by RNA interference

Shurong Huang, Lishan Chen, Nataliya Libina, Joel Janes, George M. Martin, Judith Campisi, Junko Oshima

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Year:

2005

Language:

english

File:

PDF, 295 KB

english, 2005

14

An analysis of genetic variation across theMBL2locus in Dutch Caucasians indicates that 3′ haplotypes could modify circulating levels of mannose-binding lectin

Toralf Bernig, Willemijn Breunis, Nannette Brouwer, Amy Hutchinson, Robert Welch, Dirk Roos, Taco Kuijpers, Stephen Chanock

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Year:

2005

Language:

english

File:

PDF, 564 KB

english, 2005

15

Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3–p21.2 between D1S2896 and D1S457 but outside ABCA4

Qingjiong Zhang, Fareeha Zulfiqar, Xueshan Xiao, S. Amer Riazuddin, Radha Ayyagari, Farooq Sabar, Raphael Caruso, Paul A. Sieving, Sheikh Riazuddin, J. Fielding Hejtmancik

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Year:

2005

Language:

english

File:

PDF, 502 KB

english, 2005

16

Acyl-CoA: cholesterol acyltransferase-2 gene polymorphisms and their association with plasma lipids and coronary artery disease risks

Xuelian He, Yongjian Lu, Nilmani Saha, Hongyuan Yang, Chew-Kiat Heng

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Year:

2005

Language:

english

File:

PDF, 253 KB

english, 2005

17

One step closer to fixing association studies: evidence for age- and gender-specific allele frequency variations and deviations from Hardy-Weinberg expectations in controls

Haydeh Payami, Motao Zhu, Jennifer Montimurro, Robert Keefe, Colin C. McCulloch, Lina Moses

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Year:

2005

Language:

english

File:

PDF, 379 KB

english, 2005

18

The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis

Michele D. Bishop, Steven D. Freedman, Julian Zielenski, Najma Ahmed, Annie Dupuis, Sheelagh Martin, Lynda Ellis, Julie Shea, Isobel Hopper, Mary Corey, Paul Kortan, Gregory Haber, Christine Ross, Joh

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Year:

2005

Language:

english

File:

PDF, 341 KB

english, 2005

19

Comprehensive genetic evaluation of common E-cadherin sequence variants and prostate cancer risk: strong confirmation of functional promoter SNP

Sara Lindström, Fredrik Wiklund, Björn-Anders Jonsson, Hans-Olov Adami, Katarina Bälter, Anthony J. Brookes, Jianfeng Xu, S. Lilly Zheng, William B. Isaacs, Jan Adolfsson, Henrik Grönberg

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Year:

2005

Language:

english

File:

PDF, 378 KB

english, 2005

20

Genetic linkage of systemic lupus erythematosus to 13q32 in African American families with affected male members

Chao Xing, Courtney Gray-McGuire, Jennifer A. Kelly, Phillip Garriott, Hulya Bukulmez, John B. Harley, Jane M. Olson

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Year:

2005

Language:

english

File:

PDF, 330 KB

english, 2005

21

A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p

Myrto Papaioannou, Christina F. Chakarova, De Quincy C. Prescott, Naushin Waseem, Thorsten Theis, Irma Lopez, Bhavdip Gill, Robert K. Koenekoop, Shomi S. Bhattacharya

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Year:

2005

Language:

english

File:

PDF, 192 KB

english, 2005

22

A novel locus for autosomal-dominant dilated cardiomyopathy maps to chromosome 7q22.3-31.1

Jost Schönberger, Leif Kühler, Elisabete Martins, Tom H. Lindner, Jose Silva-Cardoso, Michael Zimmer

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Year:

2005

Language:

english

File:

PDF, 347 KB

english, 2005

23

Extensive Sequencing of the CFTR gene: lessons learned from the first 157 patient samples

Matthew J. McGinniss, Christina Chen, Joy B. Redman, Arlene Buller, Franklin Quan, Mei Peng, Robert Giusti, Feras M. Hantash, Donghui Huang, Weimin Sun, Charles M. Strom

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Year:

2005

Language:

english

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PDF, 202 KB

english, 2005

24

TheEPAS1gene influences the aerobic–anaerobic contribution in elite endurance athletes

Jennifer Henderson, Jason M. Withford-Cave, David L. Duffy, Stuart J. Cole, Nicole A. Sawyer, Jason P. Gulbin, Allan Hahn, Ronald J. Trent, Bing Yu

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Year:

2005

Language:

english

File:

PDF, 266 KB

english, 2005

25

Comparison of three methods to estimate genetic ancestry and control for stratification in genetic association studies among admixed populations

Hui-Ju Tsai, Shweta Choudhry, Mariam Naqvi, William Rodriguez-Cintron, Esteban González Burchard, Elad Ziv

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Year:

2005

Language:

english

File:

PDF, 476 KB

english, 2005

26

A new mutation in exon 7 ofNEMOgene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency

Natalia Martinez-Pomar, Ivan Munoz-Saa, Damian Heine-Suner, Ana Martin, Asma Smahi, Nuria Matamoros

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Year:

2005

Language:

english

File:

PDF, 357 KB

english, 2005

27

Allelic imbalance analysis of oral tongue squamous cell carcinoma by high-density single nucleotide polymorphism arrays using whole-genome amplified DNA

Xiaofeng Zhou, Stephane Temam, Zugen Chen, Hui Ye, Li Mao, David T. W. Wong

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Year:

2005

Language:

english

File:

PDF, 313 KB

english, 2005

28

Systemic lupus erythematosus susceptibility loci defined by genome scan meta-analysis

Young Ho Lee, Swapan K. Nath

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Year:

2005

Language:

english

File:

PDF, 421 KB

english, 2005

29

Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation

Hiroki Kano, Kenji Kurosawa, Emiko Horii, Shiro Ikegawa, Hideki Yoshikawa, Hiroki Kurahashi, Tatsushi Toda

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Year:

2005

Language:

english

File:

PDF, 360 KB

english, 2005

30

Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome

Giles D.J. Watts, Sarju G. Mehta, Chengfeng Zhao, Sheena Ramdeen, Sara Jane Hamilton, Deborah V. Novack, Steven Mumm, Michael P. Whyte, Barbara Mc Gillivray, Virginia E. Kimonis

Journal:

Year:

2005

Language:

english

File:

PDF, 317 KB

english, 2005