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Morín, Matias, Borreguero, Lucía, Booth, Kevin T, Lachgar, María, Huygen, Patrick, Villamar, Manuela, Mayo, Fernando, Barrio, Luis Carlos, Santos Serrão de Castro, Luciana, Morales, Carmelo, Del Castillo, Ignacio, Arellano, Beatriz, Tellería, Dolores, Smith, Richard J H, Azaiez, Hela, Moreno Pelayo, M A
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Published in Scientific reports (10.04.2020)
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A Deletion Involving the Connexin 30 Gene in Nonsyndromic Hearing Impairment
del Castillo, Francisco J, del Castillo, Ignacio, Villamar, Manuela, Moreno-Pelayo, Miguel A, Álvarez, Araceli, Tellería, Dolores, Menéndez, Ibis, Moreno, Felipe
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A Highly Sensitive Genetic Protocol to Detect NF1 Mutations
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Co‐occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2
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Published in Molecular genetics & genomic medicine (01.08.2020)
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Insulin gene variable number of tandem repeats regulatory polymorphism is not associated with hyperandrogenism in Spanish women
Calvo, Rosa M., Tellerı́a, Dolores, Sancho, José, San Millán, José L., Escobar-Morreale, Héctor F.
Published in Fertility and sterility (01.04.2002)
Published in Fertility and sterility (01.04.2002)
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Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations
Ruiz-Llorente, Sergio, Bravo, Jerónimo, Cebrián, Arancha, Cascón, Alberto, Pollan, Marina, Tellería, Dolores, Letón, Rocío, Urioste, Miguel, Rodríguez-López, Raquel, de Campos, Jose M., Muñoz, María J., Lacambra, Carmen, Benítez, Javier, Robledo, Mercedes
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Published in Human mutation (01.02.2004)
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G12S and H50R variations are polymorphisms in the SDHD gene
Cascón, Alberto, Ruiz-Llorente, Sergio, Cebrián, Arancha, Letón, Rocío, Tellería, Dolores, Benítez, Javier, Robledo, Mercedes
Published in Genes chromosomes & cancer (01.06.2003)
Published in Genes chromosomes & cancer (01.06.2003)
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Screening for mutations in the steroidogenic acute regulatory protein and steroidogenic factor-1 genes, and in CYP11A and dosage-sensitive sex reversal-adrenal hypoplasia gene on the X chromosome, gene-1 (DAX-1), in hyperandrogenic hirsute women
CALVOT, Rosa M, ASUNCION, Miryam, TELLERIA, Dolores, SANCHO, José, SAN MILLAN, José L, ESCOBAR-MORREALE, Héctor F
Published in The journal of clinical endocrinology and metabolism (01.04.2001)
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Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma
Cascon, Alberto, Ruiz-Llorente, Sergio, Cebrian, Arancha, Telleria, Dolores, Rivero, Jose Carlos, Diez, Juan Jose, Lopez-Ibarra, Pablo J, Jaunsolo, Miguel Angel, Benitez, Javier, Robledo, Mercedes
Published in European journal of human genetics : EJHG (01.08.2002)
Published in European journal of human genetics : EJHG (01.08.2002)
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Detección de la deleción F508 del gen CFTR por la técnica de mutagénesis dirigida mediante PCR en pacientes con Enfermedad Fibroquística
Marta, Ascurra, Vega-Gómez, María Celeste, San-Millán, José L, Dolores, Tellería, Mojoli Le Quesne, Andrés, Fernández-Nestosa, María José
Published in Pediatria (Asunción) (01.04.2012)
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Published in Pediatria (Asunción) (01.04.2012)
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Angiotensin I Converting Enzyme Gene Polymorphism and Reflux Nephropathy in Children
Gallego, Nieves, Estepa, Rosario, Tellería, Dolores, San Millán, Jose Luis, Belanger, Amaya, Ortuño, Joaquin
Published in Nephron (01.10.2001)
Published in Nephron (01.10.2001)
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A novel frameshift mutation (2436insT) produces an immediate stop codon in the autosomal dominant polycystic kidney disease 2 (PKD2) gene
Iglesias, Diana M., Telleria, Dolores, Viribay, Miguel, Herrera, Mariana, Bernath, Viviana A., Kornblihtt, Alberto R., Martin, Rodolfo S., Millán, José Luis San
Published in Nephrology, dialysis, transplantation (01.04.2000)
Published in Nephrology, dialysis, transplantation (01.04.2000)
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Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease
Torra, Roser, Viribay, Miguel, Tellería, Dolores, Badenas, Cèlia, Watson, Michael, Harris, Peter, Darnell, Alejandro, Millán, José L. San
Published in Kidney international (01.07.1999)
Published in Kidney international (01.07.1999)
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Screening for Mutations in the Steroidogenic Acute Regulatory Protein and Steroidogenic Factor-1 Genes, and in CYP11A and Dosage-Sensitive Sex Reversal-Adrenal Hypoplasia Gene on the X Chromosome, Gene-1 (DAX-1), in Hyperandrogenic Hirsute Women1
Calvo, Rosa M, Asunción, Miryam, Tellería, Dolores, Sancho, José, San Millán, José L, Escobar-Morreale, Héctor F
Published in The journal of clinical endocrinology and metabolism (01.04.2001)
Published in The journal of clinical endocrinology and metabolism (01.04.2001)
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Screening for Mutations in the Steroidogenic Acute Regulatory Protein and Steroidogenic Factor-1 Genes, and in CYP11A and Dosage-Sensitive Sex Reversal-Adrenal Hypoplasia Gene on the X Chromosome, Gene-1 (DAX-1), in Hyperandrogenic Hirsute Women 1
Calvo, Rosa M., Asunción, Miryam, Tellería, Dolores, Sancho, José, San Millán, José L., Escobar-Morreale, Héctor F.
Published in The journal of clinical endocrinology and metabolism (01.03.2001)
Published in The journal of clinical endocrinology and metabolism (01.03.2001)
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Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene
VIRIBAY, M, HAYASHI, T, SAN MILLAN, J. L, TELLERIA, D, MOCHIZUKI, T, REYNOLDS, D. M, ALONSO, R, LENS, X. M, MORENO, F, HARRIS, P. C, SOMLO, S
Published in Human genetics (01.12.1997)
Published in Human genetics (01.12.1997)
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Dinucleotide repeat polymorphism at the D4S2458 locus close to the PKD2 locus on human chromosome 4q
Viribay, M, Tellería, D, Velasco, E, Moreno, F, San Millán, J L
Published in Human genetics (01.05.1995)
Published in Human genetics (01.05.1995)
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