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Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype.
Published in:
Clinical Genetics, 2013, v. 84, n. 3, p. 213, doi. 10.1111/cge.12064
By:
- Carmichael, H;
- Shen, Y;
- Nguyen, TT;
- Hirschhorn, JN;
- Dauber, A
Publication type:
Article
Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.
Published in:
2012
By:
- Dauber A;
- Lafranchi SH;
- Maliga Z;
- Lui JC;
- Moon JE;
- McDeed C;
- Henke K;
- Zonana J;
- Kingman GA;
- Pers TH;
- Baron J;
- Rosenfeld RG;
- Hirschhorn JN;
- Harris MP;
- Hwa V;
- Dauber, Andrew;
- Lafranchi, Stephen H;
- Maliga, Zoltan;
- Lui, Julian C;
- Moon, Jennifer E
Publication type:
journal article
Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia.
Published in:
2012
By:
- Dauber A;
- Nguyen TT;
- Sochett E;
- Cole DE;
- Horst R;
- Abrams SA;
- Carpenter TO;
- Hirschhorn JN;
- Dauber, Andrew;
- Nguyen, Thutrang T;
- Sochett, Etienne;
- Cole, David E C;
- Horst, Ronald;
- Abrams, Steven A;
- Carpenter, Thomas O;
- Hirschhorn, Joel N
Publication type:
journal article
Association studies of BMI and type 2 diabetes in the neuropeptide Y pathway: a possible role for NPY2R as a candidate gene for type 2 diabetes in men.
Published in:
2007
By:
- Campbell CD;
- Lyon HN;
- Nemesh J;
- Drake JA;
- Tuomi T;
- Gaudet D;
- Zhu X;
- Cooper RS;
- Ardlie KG;
- Groop LC;
- Hirschhorn JN
Publication type:
Journal Article
Investigation of the estrogen receptor-{alpha} gene with type 2 diabetes and/or nephropathy in African-American and European-American populations.
Published in:
2007
By:
- Gallagher CJ;
- Keene KL;
- Mychaleckyj JC;
- Langefeld CD;
- Hirschhorn JN;
- Henderson BE;
- Gordon CJ;
- Freedman BI;
- Rich SS;
- Bowden DW;
- Sale MM
Publication type:
Journal Article
The Krüppel-like factor 11 (KLF11) Q62R polymorphism is not associated with type 2 diabetes in 8,676 people.
Published in:
2006
By:
- Florez JC;
- Saxena R;
- Winckler W;
- Burtt NP;
- Almgren P;
- Boström KB;
- Tuomi T;
- Gaudet D;
- Ardlie KG;
- Daly MJ;
- Altshuler D;
- Hirschhorn JN;
- Groop L;
- Florez, Jose C;
- Saxena, Richa;
- Winckler, Wendy;
- Burtt, Noël P;
- Almgren, Peter;
- Bengtsson Boström, Kristina;
- Tuomi, Tiinamaija
Publication type:
journal article
Haplotype structures and large-scale association testing of the 5' AMP-activated protein kinase genes PRKAA2, PRKAB1, and PRKAB2 [corrected] with type 2 diabetes.
Published in:
2006
By:
- Sun MW;
- Lee JY;
- de Bakker PIW;
- Burtt NP;
- Almgren P;
- Råstam L;
- Tuomi T;
- Gaudet D;
- Daly MJ;
- Hirschhorn JN;
- Altshuler D;
- Groop L;
- Florez JC;
- Sun, Maria W;
- Lee, Jennifer Y;
- de Bakker, Paul I W;
- Burtt, Noël P;
- Almgren, Peter;
- Råstam, Lennart;
- Tuomi, Tiinamaija
Publication type:
journal article
Association of common variation in the HNF1alpha gene region with risk of type 2 diabetes.
Published in:
2005
By:
- Winckler W;
- Burtt NP;
- Holmkvist J;
- Cervin C;
- de Bakker PIW;
- Sun M;
- Almgren P;
- Tuomi T;
- Gaudet D;
- Hudson TJ;
- Ardlie KG;
- Daly MJ;
- Hirschhorn JN;
- Altshuler D;
- Groop L;
- Winckler, Wendy;
- Burtt, Noël P;
- Holmkvist, Johan;
- Cervin, Camilla;
- de Bakker, Paul I W
Publication type:
journal article

Found: 8