Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

Por Sharp, A, Messiaen, L, Page, G, Antignac, C, Gubler, M, Onuchic, L, Somlo, S, Germino, G, Guay-Woodford, L
Publicado em 2005

The Severe Perinatal Form of Autosomal Recessive Polycystic Kidney Disease Maps to Chromosome 6p21.1-p12: Implications for Genetic Counseling

Por Guay-Woodford, L. M., Muecher, G., Hopkins, S. D., Avner, E. D., Germino, G. G., Guillot, A. P., Herrin, J., Holleman, R., Irons, D. A., Primack, W., Thomson, P. D., Waldo, F. B., Lunt, P. W., Zerres, K.
Publicado em 1995

Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.

Por Vargas-Poussou, R, Feldmann, D, Vollmer, M, Konrad, M, Kelly, L, van den Heuvel, L P, Tebourbi, L, Brandis, M, Karolyi, L, Hebert, S C, Lemmink, H H, Deschênes, G, Hildebrandt, F, Seyberth, H W, Guay-Woodford, L M, Knoers, N V, Antignac, C
Publicado em 1998