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Items: 11

1.

Phenome-wide association studies across large population cohorts support drug target validation.

Diogo D, Tian C, Franklin CS, Alanne-Kinnunen M, March M, Spencer CCA, Vangjeli C, Weale ME, Mattsson H, Kilpeläinen E, Sleiman PMA, Reilly DF, McElwee J, Maranville JC, Chatterjee AK, Bhandari A, Nguyen KH, Estrada K, Reeve MP, Hutz J, Bing N, John S, MacArthur DG, Salomaa V, Ripatti S, Hakonarson H, Daly MJ, Palotie A, Hinds DA, Donnelly P, Fox CS, Day-Williams AG, Plenge RM, Runz H.

Nat Commun. 2018 Oct 16;9(1):4285. doi: 10.1038/s41467-018-06540-3.

2.

Genomewide search for type 2 diabetes mellitus susceptibility loci in Finnish families: the Botnia study.

Lindgren CM, Mahtani MM, Widén E, McCarthy MI, Daly MJ, Kirby A, Reeve MP, Kruglyak L, Parker A, Meyer J, Almgren P, Lehto M, Kanninen T, Tuomi T, Groop LC, Lander ES.

Am J Hum Genet. 2002 Feb;70(2):509-16. Epub 2002 Jan 9.

3.

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ.

Am J Hum Genet. 2001 Jan;68(1):64-80. Epub 2000 Dec 8.

4.

Molecular genetic advances in tuberous sclerosis.

Cheadle JP, Reeve MP, Sampson JR, Kwiatkowski DJ.

Hum Genet. 2000 Aug;107(2):97-114. Review.

PMID:
11030407
5.

Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.

Choy YS, Dabora SL, Hall F, Ramesh V, Niida Y, Franz D, Kasprzyk-Obara J, Reeve MP, Kwiatkowski DJ.

Ann Hum Genet. 1999 Sep;63(Pt 5):383-91.

6.

Proteinuria is associated with persistence of antibody to streptococcal M protein in Aboriginal Australians.

Goodfellow AM, Hoy WE, Sriprakash KS, Daly MJ, Reeve MP, Mathews JD.

Epidemiol Infect. 1999 Feb;122(1):67-75.

7.

Serrate2 is disrupted in the mouse limb-development mutant syndactylism.

Sidow A, Bulotsky MS, Kerrebrock AW, Bronson RT, Daly MJ, Reeve MP, Hawkins TL, Birren BW, Jaenisch R, Lander ES.

Nature. 1997 Oct 16;389(6652):722-5.

PMID:
9338782
8.

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J, Burley M, Jeremiah S, Woodward K, Nahmias J, Fox M, Ekong R, Osborne J, Wolfe J, Povey S, Snell RG, Cheadle JP, Jones AC, Tachataki M, Ravine D, Sampson JR, Reeve MP, Richardson P, Wilmer F, Munro C, Hawkins TL, Sepp T, Ali JB, Ward S, Green AJ, Yates JR, Kwiatkowska J, Henske EP, Short MP, Haines JH, Jozwiak S, Kwiatkowski DJ.

Science. 1997 Aug 8;277(5327):805-8.

9.

The vibrator mutation causes neurodegeneration via reduced expression of PITP alpha: positional complementation cloning and extragenic suppression.

Hamilton BA, Smith DJ, Mueller KL, Kerrebrock AW, Bronson RT, van Berkel V, Daly MJ, Kruglyak L, Reeve MP, Nemhauser JL, Hawkins TL, Rubin EM, Lander ES.

Neuron. 1997 May;18(5):711-22.

10.

The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned.

Saxena R, Brown LG, Hawkins T, Alagappan RK, Skaletsky H, Reeve MP, Reijo R, Rozen S, Dinulos MB, Disteche CM, Page DC.

Nat Genet. 1996 Nov;14(3):292-9.

PMID:
8896558
11.

Isolation and regional mapping of 110 chromosome 22 STSs.

Hudson TJ, Colbert AM, Reeve MP, Bae JS, Lee MK, Nussbaum RL, Budarf ML, Emanuel BS, Foote S.

Genomics. 1994 Dec;24(3):588-92.

PMID:
7713513

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