Browsing Articles (Hospital del Mar Research Institute) by Author "Jacobs, Kevin"

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A single nucleotide polymorphism tags variation in the arylamine N-acetyltransferase 2 phenotype in populations of European background

García Closas, Montserrat; Hein, David W.; Silverman, Debra T.; Malats i Riera, Núria; Yeager, Meredith; Jacobs, Kevin; Doll, Mark A.; Figueroa, Jonine D.; Baris, Dalsu; Schwenn, Molly; Kogevinas, Manolis; Johnson, Alison; Chatterjee, Nilanjan; Moore, Lee E.; Moeller, Timothy; Real, Francisco X.; Chanock, Stephen J.; Rothman, Nathaniel (Lippincott Williams & Wilkins, 2011)

The arylamine N-acetyltransferase 2 (NAT2) slow acetylation phenotype is an established risk factor for urinary bladder cancer. We reported earlier on this risk association using NAT2 phenotypic categories inferred from ...
Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome

Rodríguez Santiago, Benjamín; Malats i Riera, Núria; Rothman, Nathaniel; Armengol i Dulcet, Lluís; García Closas, Montserrat; Kogevinas, Manolis; Villa, Olaya; Hutchinson, Amy; Earl, Julie; Marenne, Gaëlle; Jacobs, Kevin; Rico, Daniel; Tardón, Adonina; Carrato, Alfredo; Thomas, Gilles; Valencia, Alfonso; Silverman, Debra T.; Real, Francisco X.; Chanock, Stephen J.; Pérez Jurado, Luis Alberto (Elsevier, 2010)

Mosaicism is defined as the coexistence of cells with different genetic composition within an individual, caused by postzygotic somatic mutation. Although somatic mosaicism for chromosomal abnormalities is a well-established ...

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