Search Results - "Pereiro, Ines"

Algorithm for the molecular analysis of Bardet-Biedl syndrome in Spain by Castro-Sánchez, Sheila, Álvarez-Satta, María, Pereiro, Inés, Piñeiro-Gallego, M Teresa, Valverde, Diana

“…Bardet-Biedl syndrome (BBS) is a multisystemic genetic disorder, which is not widespread among the Caucasian population, characterized by a highly variable…”
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Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome by PEREIRO, Ines, HOSKINS, Bethan E, MARSHALL, Jan D, COLLIN, Gayle B, NAGGERT, Jürgen K, PINEIRO-GALLEGO, Teresa, OITMAA, Eneli, KATSANIS, Nicholas, VALVERDE, Diana, BEALES, Philip L

“…Bardet-Biedl syndrome (BBS; OMIM no. 209 900) and Alström syndrome (ALMS; OMIM no. 203 800) are rare, multisystem genetic disorders showing both a highly…”
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Clinical evaluation of two consanguineous families with homozygous mutations in BEST1 by Piñeiro-Gallego, Teresa, Álvarez, María, Pereiro, Inés, Campos, Severiano, Sharon, Dror, Schatz, Patrik, Valverde, Diana

“…To describe the clinical and genetic findings in two consanguineous families with Best vitelliform macular dystrophy (BVMD) and homozygous mutations in the…”
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Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71 by Nishimura, Darryl Y., Baye, Lisa M., Perveen, Rahat, Searby, Charles C., Avila-Fernandez, Almudena, Pereiro, Ines, Ayuso, Carmen, Valverde, Diana, Bishop, Paul N., Manson, Forbes D.C., Urquhart, Jill, Stone, Edwin M., Slusarski, Diane C., Black, Graeme C.M., Sheffield, Val C.

“…Retinitis pigmentosa is a genetically heterogeneous group of inherited ocular disorders characterized by progressive photoreceptor cell loss, night blindness,…”
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Complexity of Phenotype-Genotype Correlations in Spanish Patients with RDH12 Mutations by Valverde, Diana, Pereiro, Ines, Vallespin, Elena, Ayuso, Carmen, Borrego, Salud, Baiget, Montserrat

“…Several mutations have been described in the RDH12 gene that disturb the activity of the encoded protein, suggesting that RDH12 loss of function disrupts the…”
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New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping by Pereiro, Ines, Valverde, Diana, Piñeiro-Gallego, Teresa, Baiget, Montserrat, Borrego, Salud, Ayuso, Carmen, Searby, Charles, Nishimura, Darryl

“…Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare multi-organ disorder in which BBS patients manifest a variable phenotype that includes retinal dystrophy,…”
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Arrayed primer extension technology simplifies mutation detection in BardetaBiedl and AlstrAPGm syndrome by Pereiro, Ines, Hoskins, Bethan E, Marshall, Jan D, Collin, Gayle B, Naggert, Jorgen K, Pieiro-Gallego, Teresa, Oitmaa, Eneli, Katsanis, Nicholas, Valverde, Diana, Beales, Philip L

“…Bardet-Biedl syndrome (BBS; OMIM no. 209a900) and AlstrAPGm syndrome (ALMS; OMIM no. 203a800) are rare, multisystem genetic disorders showing both a highly…”
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Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C20RF71 by NISHIMURA, Darryl Y, BAYE, Lisa M, URQUHART, Jill, STONE, Edwin M, SLUSARSKI, Diane C, BLACK, Graeme C. M, SHEFFIELD, Val C, PERVEEN, Rahat, SEARBY, Charles C, AVILA-FERNANDEZ, Almudena, PEREIRO, Ines, AYUSO, Carmen, VALVERDE, Diana, BISHOP, Paul N, MANSON, Forbes D. C

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Algorithm for the molecular analysis of Bardet–Biedl syndrome in Spain by Castro-Sánchez, Sheila, Álvarez-Satta, María, Pereiro, Inés, Piñeiro-Gallego, M. Teresa, Valverde, Diana

“…Bardet–Biedl syndrome (BBS) is a multisystemic genetic disorder, which is not widespread among the Caucasian population, characterized by a highly variable…”
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