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Page 1
Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population.
Shahzad M, Sires Campos J, Tariq N, Herraiz Serrano C, Yousaf R, Jiménez-Cervantes C, Yousaf S, Waryah YM, Dad HA, Blue EM, Sobreira N, López-Giráldez F; University of Washington Center for Mendelian Genomics; Kausar T, Ali M, Waryah AM, Riazuddin S, Shaikh RS, García-Borrón JC, Ahmed ZM. Shahzad M, et al. Among authors: blue em. Pigment Cell Melanoma Res. 2015 Nov;28(6):730-5. doi: 10.1111/pcmr.12400. Epub 2015 Sep 22. Pigment Cell Melanoma Res. 2015. PMID: 26197705 Free PMC article.
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.
Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics; Bamshad MJ. Chong JX, et al. Am J Hum Genet. 2015 May 7;96(5):841-9. doi: 10.1016/j.ajhg.2015.04.004. Am J Hum Genet. 2015. PMID: 25957469 Free PMC article.
Analysis of pedigree data in populations with multiple ancestries: Strategies for dealing with admixture in Caribbean Hispanic families from the ADSP.
Nafikov RA, Nato AQ Jr, Sohi H, Wang B, Brown L, Horimoto AR, Vardarajan BN, Barral SM, Tosto G, Mayeux RP, Thornton TA, Blue E, Wijsman EM. Nafikov RA, et al. Among authors: blue e. Genet Epidemiol. 2018 Sep;42(6):500-515. doi: 10.1002/gepi.22133. Epub 2018 Jun 3. Genet Epidemiol. 2018. PMID: 29862559 Free PMC article.
Rare variants in RTEL1 are associated with familial interstitial pneumonia.
Cogan JD, Kropski JA, Zhao M, Mitchell DB, Rives L, Markin C, Garnett ET, Montgomery KH, Mason WR, McKean DF, Powers J, Murphy E, Olson LM, Choi L, Cheng DS, Blue EM, Young LR, Lancaster LH, Steele MP, Brown KK, Schwarz MI, Fingerlin TE, Schwartz DA, Lawson WE, Loyd JE, Zhao Z, Phillips JA 3rd, Blackwell TS. Cogan JD, et al. Among authors: blue em. Am J Respir Crit Care Med. 2015 Mar 15;191(6):646-55. doi: 10.1164/rccm.201408-1510OC. Am J Respir Crit Care Med. 2015. PMID: 25607374 Free PMC article.
Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer's disease.
Vardarajan BN, Barral S, Jaworski J, Beecham GW, Blue E, Tosto G, Reyes-Dumeyer D, Medrano M, Lantigua R, Naj A, Thornton T, DeStefano A, Martin E, Wang LS, Brown L, Bush W, van Duijn C, Goate A, Farrer L, Haines JL, Boerwinkle E, Schellenberg G, Wijsman E, Pericak-Vance MA, Mayeux R; Alzheimer's Disease Sequencing Project; Wang LS. Vardarajan BN, et al. Ann Clin Transl Neurol. 2018 Mar 13;5(4):406-417. doi: 10.1002/acn3.537. eCollection 2018 Apr. Ann Clin Transl Neurol. 2018. PMID: 29688227 Free PMC article.
44 results