Bardet-Biedl and Alström syndromes in Spain

Autor Valverde, D, Piñeiro-Gallego, T, Pereiro, I
Vydáno 2012

Molecular approach in the study of Alström syndrome: Analysis of ten Spanish families

Autor Piñeiro-Gallego, Teresa, Cortón, Marta, Ayuso, Carmen, Baiget, Montserrat, Valverde, Diana
Vydáno 2012

Clinical evaluation of two consanguineous families with homozygous mutations in BEST1

Autor Piñeiro-Gallego, Teresa, Álvarez, María, Pereiro, Inés, Campos, Severiano, Sharon, Dror, Schatz, Patrik, Valverde, Diana
Vydáno 2011

New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: Detection of candidate regions by homozygosity mapping

Autor Pereiro, Ines, Valverde, Diana, Piñeiro-Gallego, Teresa, Baiget, Montserrat, Borrego, Salud, Ayuso, Carmen, Searby, Charles, Nishimura, Darryl
Vydáno 2010

Arrayed primer extension technology simplifies mutation detection in Bardet–Biedl and Alström syndrome

Autor Pereiro, Ines, Hoskins, Bethan E, Marshall, Jan D, Collin, Gayle B, Naggert, Jürgen K, Piñeiro-Gallego, Teresa, Oitmaa, Eneli, Katsanis, Nicholas, Valverde, Diana, Beales, Philip L
Vydáno 2011