HD03 HUMAN VARIATION PANEL

Description: HUMAN VARIATION PANEL - INDO PAKISTANI

Aliquot Size: 10 µg each

Sex: Males: 1 Females: 8

Brief Description: Some samples in the Human Variation Collection have been assigned a second catalogue number to indicate inclusion in the Human Variation Collection in addition to their original catalogue number. A complete list of the alternative sample numbers can be downloaded as an Excel file.
Visscher, H., Ross, C.J.D., Dube, M-P., Brown, A.M.K., Phillips, M.S., Carleton, B.C., and Hayden, M.R., Application of principal component analysis to pharmacogenomic studies in Canada The Pharmacogenomics Journal9:362-372 2009
PubMed ID: 19652663
 
Hwa V, Little B, Adiyaman P, Kofoed EM, Pratt KL, Ocal G, Berberoglu M, Rosenfeld RG, Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b The Journal of clinical endocrinology and metabolism90:4260-6 2005
PubMed ID: 15827093
 
Schultz JM, Yang Y, Caride AJ, Filoteo AG, Penheiter AR, Lagziel A, Morell RJ, Mohiddin SA, Fananapazir L, Madeo AC, Penniston JT, Griffith AJ, Modification of human hearing loss by plasma-membrane calcium pump PMCA2. N Engl J Med352(15):1557-64 2005
PubMed ID: 15829536
 
Porton B, Ferreira A, DeLisi LE, Kao HT, A rare polymorphism affects a mitogen-activated protein kinase site in synapsin III: possible relationship to schizophrenia Biological psychiatry55:118-25 2004
PubMed ID: 14732590
 
Lakhman SS, Ghosh D, Blanco JG, Functional significance of a natural allelic variant of human carbonyl reductase 3 (CBR3) Drug metabolism and disposition: the biological fate of chemicals33:254-7 2004
PubMed ID: 15537833
 
Fang Y, van Meurs JB, Bergink AP, Hofman A, van Duijn CM, van Leeuwen JP, Pols HA, Uitterlinden AG, Cdx-2 polymorphism in the promoter region of the human vitamin D receptor gene determines susceptibility to fracture in the elderly Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research18:1632-41 2003
PubMed ID: 12968672
 
Tanus-Santos JE, Desai M, Flockhart DA, Effects of ethnicity on the distribution of clinically relevant endothelial nitric oxide variants. Pharmacogenetics11(8):719-25 2001
PubMed ID: 11692081
 
Brunkow ME, Gardner JC, Van Ness J, Paeper BW, Kovacevich BR, Proll S, Skonier JE, Zhao L, Sabo PJ, Fu Y, Alisch RS, Gillett L, Colbert T, Tacconi P, Galas D, Hamersma H, Beighton P, Mulligan J, Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. Am J Hum Genet68(3):577-89 2001
PubMed ID: 11179006
 
Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ, Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet68(1):26-37 2001
PubMed ID: 11090341
 
Lishanski A, Screening for single-nucleotide polymorphisms using branch migration inhibition in PCR-amplified DNA. Clin Chem46(9):1464-70 2000
PubMed ID: 10973891

Catalog IDSexAge at Sampling
NA17023Female7 YR
NA17024Female7 YR
NA17023Female7 YR
NA17024Female7 YR
NA17028Female5 YR
   
NA17026Female37 YR
   
NA17022Female3 MO
   
NA17030Female24 YR
   
NA17029Female21 YR
   
NA17021Female15 YR
   
NA17027Male41 YR