Fernando Santos

Mutations in the chloride-bicarbonate exchanger gene <i>AE1</i> cause autosomal dominant but not autosomal recessive distal renal tubular acidosis

Fiona E. Karet, Á. Z. Györy, Robert J. Unwin et al. · Proceedings of the National Academy of Sciences · 1998 · 274 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Rapid microplate high-throughput methodology for assessment of Folin-Ciocalteu reducing capacity

Luís M. Magalhães, Fernando Santos, Marcela A. Segundo et al. · Talanta · 2010 · 242 citations

Natural Sciences, Chemistry, Analytical Chemistry +4

Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report

Natalia Mejía, Helena Gil‐Peña, Eliécer Coto et al. · Orphanet Journal of Rare Diseases · 2010 · 85 citations · Full text

Medicine, Endocrinology, Genetics +17

Different Bone Growth Rates Are Associated With Changes in the Expression Pattern of Types II and X Collagens and Collagenase 3 in Proximal Growth Plates of the Rat Tibia

Jesús Álvarez, Milagros Balbı́n, Fernando Santos et al. · Journal of Bone and Mineral Research · 2000 · 75 citations · Full text

Medicine, Cell Biology, Developmental Biology +17

A new mutation (intron 9 +1 G&gt;T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies

Eliécer Coto, Julián Rodrı́guez, Nikola Jeck et al. · Kidney International · 2003 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6