Works matching IS 03406717 AND DT 2005 AND VI 118 AND IP 3/4

Results: 30

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

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 499, doi. 10.1007/s00439-005-0031-y

By:

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

Publication type:

Article

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

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 322, doi. 10.1007/s00439-005-0057-1

By:

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

Publication type:

Article

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

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 309, doi. 10.1007/s00439-005-0061-5

By:

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

Publication type:

Article

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

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 356, doi. 10.1007/s00439-005-0054-4

By:

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

Publication type:

Article

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

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 501, doi. 10.1007/s00439-005-0063-3

By:

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

Publication type:

Article

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

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 339, doi. 10.1007/s00439-005-0060-6

By:

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

Publication type:

Article

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

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 424, doi. 10.1007/s00439-005-0067-z

By:

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

Publication type:

Article

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

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 348, doi. 10.1007/s00439-005-0036-6

By:

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

Publication type:

Article

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

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 331, doi. 10.1007/s00439-005-0065-1

By:

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

Publication type:

Article

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

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 504, doi. 10.1007/s00439-005-0069-x

By:

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

Publication type:

Article

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.

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 382, doi. 10.1007/s00439-005-0012-1

By:

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

Publication type:

Article

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

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 372, doi. 10.1007/s00439-005-0059-z

By:

Bishop, Michele D.;
Freedman, Steven D.;
Zielenski, Julian;
Ahmed, Najma;
Dupuis, Annie;
Martin, Sheelagh;
Ellis, Lynda;
Shea, Julie;
Hopper, Isobel;
Corey, Mary;
Kortan, Paul;
Haber, Gregory;
Ross, Christine;
Tzountzouris, John;
Steele, Leslie;
Ray, Peter N.;
Lap-Chee Tsui;
Durie, Peter R.

Publication type:

Article

Geography is a better determinant of human genetic differentiation than ethnicity.

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 366, doi. 10.1007/s00439-005-0039-3

By:

Manica, Andrea;
Prugnolle, Franck;
Balloux, François

Publication type:

Article

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

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 434, doi. 10.1007/s00439-005-0073-1

By:

Young Ho. Lee;
Nath, Swapan K.

Publication type:

Article

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

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 393, doi. 10.1007/s00439-005-0055-3

By:

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

Publication type:

Article

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

Published in:

2005

By:

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

Publication type:

Correction Notice

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

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 444, doi. 10.1007/s00439-005-0051-7

By:

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

Publication type:

Article

An analysis of genetic variation across the MBL2 locus in Dutch Caucasians indicates that 3′ haplotypes could modify circulating levels of mannose-binding lectin.

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 404, doi. 10.1007/s00439-005-0053-5

By:

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

Publication type:

Article

The EPAS1 gene influences the aerobic–anaerobic contribution in elite endurance athletes.

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 416, doi. 10.1007/s00439-005-0066-0

By:

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

Publication type:

Article

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

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 451, doi. 10.1007/s00439-005-0064-2

By:

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

Publication type:

Article

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

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 458, doi. 10.1007/s00439-005-0068-y

By:

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

Publication type:

Article

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

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 466, doi. 10.1007/s00439-005-0048-2

By:

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

Publication type:

Article

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

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 477, doi. 10.1007/s00439-005-0074-0

By:

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

Publication type:

Article

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

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 508, doi. 10.1007/s00439-005-0075-z

By:

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

Publication type:

Article

Linkage methods in human genetics before the computer.

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 515, doi. 10.1007/s00439-005-0049-1

By:

Edwards, A. W. F.

Publication type:

Article

Human gene mutations.

Published in:

2005

By:

Orth, Dagmar

Publication type:

Correction Notice

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

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 489, doi. 10.1007/s00439-005-0016-x

By:

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

Publication type:

Article

HUMAN GENE MUTATIONS.

Published in:: Human Genetics, 2005, v. 118, n. 3/4, p. 534, doi. 10.1007/s00439-005-0040-x
Publication type:: Article

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

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 484, doi. 10.1007/s00439-005-0038-4

By:

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

Publication type:

Article

HUMAN GENE MUTATIONS.

Published in:: Human Genetics, 2005, v. 118, n. 3/4, p. 539, doi. 10.1007/s00439-005-0041-9
Publication type:: Article