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Functional significance of single nucleotide polymorphisms in the lactase gene in diverse US patients and evidence for a novel lactase persistence allele at -13909 in those of European ancestry.
Baffour-Awuah NY, Fleet S, Montgomery RK, Baker SS, Butler JL, Campbell C, Tischfield S, Mitchell PD, Allende-Richter S, Moon JE, Fishman L, Bousvaros A, Fox V, Kuokkanen M, Grand RJ, Hirschhorn JN. Baffour-Awuah NY, et al. Among authors: hirschhorn jn. J Pediatr Gastroenterol Nutr. 2015 Feb;60(2):182-91. doi: 10.1097/MPG.0000000000000595. J Pediatr Gastroenterol Nutr. 2015. PMID: 25625576 Free PMC article.
Changing genes; losing lactase.
Grand RJ, Montgomery RK, Chitkara DK, Hirschhorn JN. Grand RJ, et al. Among authors: hirschhorn jn. Gut. 2003 May;52(5):617-9. doi: 10.1136/gut.52.5.617. Gut. 2003. PMID: 12692040 Free PMC article. No abstract available.
Genetic signatures of strong recent positive selection at the lactase gene.
Bersaglieri T, Sabeti PC, Patterson N, Vanderploeg T, Schaffner SF, Drake JA, Rhodes M, Reich DE, Hirschhorn JN. Bersaglieri T, et al. Among authors: hirschhorn jn. Am J Hum Genet. 2004 Jun;74(6):1111-20. doi: 10.1086/421051. Epub 2004 Apr 26. Am J Hum Genet. 2004. PMID: 15114531 Free PMC article.
Determination of sequence variation and haplotype structure for the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes: investigation of role in pubertal timing.
Sedlmeyer IL, Pearce CL, Trueman JA, Butler JL, Bersaglieri T, Read AP, Clayton PE, Kolonel LN, Henderson BE, Hirschhorn JN, Palmert MR. Sedlmeyer IL, et al. Among authors: hirschhorn jn. J Clin Endocrinol Metab. 2005 Feb;90(2):1091-9. doi: 10.1210/jc.2004-0649. Epub 2004 Nov 16. J Clin Endocrinol Metab. 2005. PMID: 15546906
Demonstrating stratification in a European American population.
Campbell CD, Ogburn EL, Lunetta KL, Lyon HN, Freedman ML, Groop LC, Altshuler D, Ardlie KG, Hirschhorn JN. Campbell CD, et al. Among authors: hirschhorn jn. Nat Genet. 2005 Aug;37(8):868-72. doi: 10.1038/ng1607. Epub 2005 Jul 24. Nat Genet. 2005. PMID: 16041375
The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts.
Lyon HN, Emilsson V, Hinney A, Heid IM, Lasky-Su J, Zhu X, Thorleifsson G, Gunnarsdottir S, Walters GB, Thorsteinsdottir U, Kong A, Gulcher J, Nguyen TT, Scherag A, Pfeufer A, Meitinger T, Brönner G, Rief W, Soto-Quiros ME, Avila L, Klanderman B, Raby BA, Silverman EK, Weiss ST, Laird N, Ding X, Groop L, Tuomi T, Isomaa B, Bengtsson K, Butler JL, Cooper RS, Fox CS, O'Donnell CJ, Vollmert C, Celedón JC, Wichmann HE, Hebebrand J, Stefansson K, Lange C, Hirschhorn JN. Lyon HN, et al. Among authors: hirschhorn jn. PLoS Genet. 2007 Apr 27;3(4):e61. doi: 10.1371/journal.pgen.0030061. Epub 2007 Mar 7. PLoS Genet. 2007. PMID: 17465681 Free PMC article.
Lactose and lactase--who is lactose intolerant and why?
Montgomery RK, Krasinski SD, Hirschhorn JN, Grand RJ. Montgomery RK, et al. Among authors: hirschhorn jn. J Pediatr Gastroenterol Nutr. 2007 Dec;45 Suppl 2:S131-7. doi: 10.1097/MPG.0b013e31812e68f6. J Pediatr Gastroenterol Nutr. 2007. PMID: 18185074 Review.
Discerning the ancestry of European Americans in genetic association studies.
Price AL, Butler J, Patterson N, Capelli C, Pascali VL, Scarnicci F, Ruiz-Linares A, Groop L, Saetta AA, Korkolopoulou P, Seligsohn U, Waliszewska A, Schirmer C, Ardlie K, Ramos A, Nemesh J, Arbeitman L, Goldstein DB, Reich D, Hirschhorn JN. Price AL, et al. Among authors: hirschhorn jn. PLoS Genet. 2008 Jan;4(1):e236. doi: 10.1371/journal.pgen.0030236. Epub 2007 Nov 19. PLoS Genet. 2008. PMID: 18208327 Free PMC article.
374 results