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Similar articles for PubMed (Select 9758622)

1.

Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene.

Järvelä I, Enattah NS, Kokkonen J, Varilo T, Savilahti E, Peltonen L.

Am J Hum Genet. 1998 Oct;63(4):1078-85.

2.

Identification of a variant associated with adult-type hypolactasia.

Enattah NS, Sahi T, Savilahti E, Terwilliger JD, Peltonen L, Järvelä I.

Nat Genet. 2002 Feb;30(2):233-7. Epub 2002 Jan 14.

PMID:
11788828
3.

Molecular differentiation of congenital lactase deficiency from adult-type hypolactasia.

Robayo-Torres CC, Nichols BL.

Nutr Rev. 2007 Feb;65(2):95-8. Review.

PMID:
17345962
4.

Impaired trafficking and subcellular localization of a mutant lactase associated with congenital lactase deficiency.

Behrendt M, Keiser M, Hoch M, Naim HY.

Gastroenterology. 2009 Jun;136(7):2295-303. doi: 10.1053/j.gastro.2009.01.041. Epub 2009 Jan 24.

PMID:
19208354
5.

Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.

Kuokkanen M, Kokkonen J, Enattah NS, Ylisaukko-Oja T, Komu H, Varilo T, Peltonen L, Savilahti E, Jarvela I.

Am J Hum Genet. 2006 Feb;78(2):339-44. Epub 2005 Dec 15.

6.

The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.

Varilo T, Savukoski M, Norio R, Santavuori P, Peltonen L, Järvelä I.

Am J Hum Genet. 1996 Mar;58(3):506-12.

7.

Fine-scale mapping of a novel dementia gene, PLOSL, by linkage disequilibrium.

Pekkarinen P, Kestilä M, Paloneva J, Terwillign J, Varilo T, Järvi O, Hakola P, Peltonen L.

Genomics. 1998 Dec 1;54(2):307-15.

PMID:
9828133
8.

Molecular genetics of human lactase deficiencies.

Järvelä I, Torniainen S, Kolho KL.

Ann Med. 2009;41(8):568-75. doi: 10.1080/07853890903121033. Review.

PMID:
19639477
9.

Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium.

Höglund P, Sistonen P, Norio R, Holmberg C, Dimberg A, Gustavson KH, de la Chapelle A, Kere J.

Am J Hum Genet. 1995 Jul;57(1):95-102.

10.

Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD).

Torniainen S, Freddara R, Routi T, Gijsbers C, Catassi C, Höglund P, Savilahti E, Järvelä I.

BMC Gastroenterol. 2009 Jan 22;9:8. doi: 10.1186/1471-230X-9-8.

11.

Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasia.

Kuokkanen M, Enattah NS, Oksanen A, Savilahti E, Orpana A, Järvelä I.

Gut. 2003 May;52(5):647-52.

12.

Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes.

Mitchison HM, O'Rawe AM, Taschner PE, Sandkuijl LA, Santavuori P, de Vos N, Breuning MH, Mole SE, Gardiner RM, Järvelä IE.

Am J Hum Genet. 1995 Mar;56(3):654-62.

13.

Genetic homogeneity of autoimmune polyglandular disease type I.

Björses P, Aaltonen J, Vikman A, Perheentupa J, Ben-Zion G, Chiumello G, Dahl N, Heideman P, Hoorweg-Nijman JJ, Mathivon L, Mullis PE, Pohl M, Ritzen M, Romeo G, Shapiro MS, Smith CS, Solyom J, Zlotogora J, Peltonen L.

Am J Hum Genet. 1996 Oct;59(4):879-86.

14.

Molecular and cellular aspects and regulation of intestinal lactase-phlorizin hydrolase.

Naim HY.

Histol Histopathol. 2001 Apr;16(2):553-61. Review.

PMID:
11332711
15.

Two novel mutations in the lactase gene in a Japanese infant with congenital lactase deficiency.

Uchida N, Sakamoto O, Irie M, Abukawa D, Takeyama J, Kure S, Tsuchiya S.

Tohoku J Exp Med. 2012;227(1):69-72.

16.

Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25.

Visapää I, Salonen R, Varilo T, Paavola P, Peltonen L.

Am J Hum Genet. 1999 Oct;65(4):1086-95.

17.

Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to <100 kb.

Toda T, Miyake M, Kobayashi K, Mizuno K, Saito K, Osawa M, Nakamura Y, Kanazawa I, Nakagome Y, Tokunaga K, Nakahori Y.

Am J Hum Genet. 1996 Dec;59(6):1313-20.

19.

Regional localization of the lactase-phlorizin hydrolase gene, LCT, to chromosome 2q21.

Harvey CB, Fox MF, Jeggo PA, Mantei N, Povey S, Swallow DM.

Ann Hum Genet. 1993 Jul;57(Pt 3):179-85.

PMID:
8257087
20.

Localization of psoriasis-susceptibility locus PSORS1 to a 60-kb interval telomeric to HLA-C.

Nair RP, Stuart P, Henseler T, Jenisch S, Chia NV, Westphal E, Schork NJ, Kim J, Lim HW, Christophers E, Voorhees JJ, Elder JT.

Am J Hum Genet. 2000 Jun;66(6):1833-44. Epub 2000 May 5. Erratum in: Am J Hum Genet 2002 Apr;70(4):1074.

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