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Carmen Ayuso

Research Profile

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Spain

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Carlo Nicola De Cecco; Angeles García-Criado; Andrea Laghi; Napoleón Macías; Mario Pagés; Marco rengo; Jordi Rimola; Sonia Rodríguez; Juan Ramón Ayuso; Anna Darnell; Carmen Ayuso
Virtual unenhanced images of the abdomen with second-generation dual-source dual-energy computed tomography: image quality and liver lesion detection.
Almudena Avila-Fernandez; Belen Benavides-Mori; Fiona Blanco-Kelly; Marta Corton; Blanca Garcia-Sandoval; Nelida Muñoz-Sanz; Koji M Nishiguchi; Rosa Riveiro-Alvarez; Carlo Rivolta; Carmen Ayuso
Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.
Alejandro Estrada-Cuzcano; Christian P Hamel; Carel B Hoyng; Ulrich Kellner; Almudena Avila-Fernandez; Carmen Ayuso; Sandro Banfi; Eyal Banin; Alexandre Bazinet; Rob W J Collin; Frans P M Cremers; Elfride B W De Baere; Thomy de Ravel; Anneke I den Hollander; Robert K Koenekoop; Susanne Kohl; Bart P Leroy; Karin W Littink; Irma Lopez; Liliana Mizrahi-Meissonnier; Audrey Senechal; Dror Sharon; Sabrina Signorini; Ieva Sliesoraityte; Enzo M Vingolo; Bernd Wissinger; Carmela Ziviello; Eberhard Zrenner; B Jeroen Klevering
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

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All Publications

2013: Carlo Nicola De Cecco; Angeles García-Criado; Andrea Laghi; Napoleón Macías; Mario Pagés; Marco rengo; Jordi Rimola; Sonia Rodríguez; Juan Ramón Ayuso; Anna Darnell; Carmen Ayuso
Virtual unenhanced images of the abdomen with second-generation dual-source dual-energy computed tomography: image quality and liver lesion detection.
Investigative radiology 2013;48(1):1-9.
2012: Almudena Avila-Fernandez; Belen Benavides-Mori; Fiona Blanco-Kelly; Marta Corton; Blanca Garcia-Sandoval; Nelida Muñoz-Sanz; Koji M Nishiguchi; Rosa Riveiro-Alvarez; Carlo Rivolta; Carmen Ayuso
Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.
Ophthalmology 2012;119(12):2616-21.
2012: Alejandro Estrada-Cuzcano; Christian P Hamel; Carel B Hoyng; Ulrich Kellner; Almudena Avila-Fernandez; Carmen Ayuso; Sandro Banfi; Eyal Banin; Alexandre Bazinet; Rob W J Collin; Frans P M Cremers; Elfride B W De Baere; Thomy de Ravel; Anneke I den Hollander; Robert K Koenekoop; Susanne Kohl; Bart P Leroy; Karin W Littink; Irma Lopez; Liliana Mizrahi-Meissonnier; Audrey Senechal; Dror Sharon; Sabrina Signorini; Ieva Sliesoraityte; Enzo M Vingolo; Bernd Wissinger; Carmela Ziviello; Eberhard Zrenner; B Jeroen Klevering
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.
Archives of ophthalmology 2012;130(11):1425-32.
2012: Imma Hernan; Miquel Maseras; M J Gamundi; Blanca García Sandoval; Carmen Ayuso; F Blanco-Kelly; E Borràs; Miguel Carballo
Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa.
Clinical genetics 2012;82(5):446-52.
2012: Silvia Tremosini; Ramón Vilana; Carmen Ayuso; Luis Bianchi; Loreto Boix; Alejandro Forner; Maria Reig; Jordi Rimola; Carlos Rodríguez-Lope; Manel Solé; Jordi Bruix
Prospective validation of an immunohistochemical panel (glypican 3, heat shock protein 70 and glutamine synthetase) in liver biopsies for diagnosis of very early hepatocellular carcinoma.
Gut 2012;61(10):1481-7.
2012: Marta Burrel; Alejandro Forner; Josep M Llovet; María Isabel Real; María Reig; Silvia Tremosini; Carlos Rodríguez de Lope; Carmen Ayuso; Marta Barrufet; Jordi Bruix
Survival of patients with hepatocellular carcinoma treated by transarterial chemoembolisation (TACE) using Drug Eluting Beads. Implications for clinical practice and trial design.
Journal of hepatology 2012;56(6):1330-5.
2012: Jordi Rimola; Carlos Rodríguez-Lope; Manel Solé; Silvia Tremosini; Ramón Vilana; Carmen Ayuso; Luis Bianchi; Alejandro Forner; Maria Reig; Jordi Bruix
Non-invasive diagnosis of hepatocellular carcinoma ≤ 2 cm in cirrhosis. Diagnostic accuracy assessing fat, capsule and signal intensity at dynamic MRI.
Journal of hepatology 2012;56(6):1317-23.
2012: Gema García-García; Teresa Jaijo; M Paz Mendívil; Elena Aller; María J Aparisi; Carmen Ayuso; Carmen Espinós; José L Olea; María A Ramos-Arroyo; Regina Rodrigo; Jordi Rosell; María D Sequedo; José M Millán
Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.
Molecular vision 2012;18():3070-8.
2011: Jordi Bruix; Marta Burrel; Alejandro Forner; Maria Reig; Jordi Rimola; Ramón Vilana; Carmen Ayuso
Clinical decision making and research in hepatocellular carcinoma: pivotal role of imaging techniques.
Hepatology (Baltimore, Md.) 2011;54(6):2238-44.
2011: Jana Aguirre-Lamban; Almudena Avila-Fernandez; Fiona Blanco-Kelly; Diego Cantalapiedra; Marta Corton; Blanca Garcia-Sandoval; Juan José González-Aguilera; Rosa Riveiro-Alvarez; Cristina Villaverde-Montero; Carmen Ayuso
Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors.
Investigative ophthalmology & visual science 2011;52(9):6206-12.
2011: Carmen Ayuso; Rafael Dal-Ré; Francisco Abad-Santos; Diego Gracia
[Ethics on genetic research (1). Pharmacogenetic studies].
Medicina clínica 2011;136(15):678-82.
2011: Ramón Vilana; Alejandro Forner; A García; Carmen Ayuso; Concepció Bru
[Imaging diagnosis of hepatocellular carcinoma. Addendum to hepatocellular carcinoma: diagnosis, staging and treatment strategies].
Radiología 2011;53(2):156-8.
2011: Gema Garcia-Garcia; Teresa Jaijo; Ana M Leon; Jose M Millan; Rafael Navarro; Regina Rodrigo; Maria J Aparisi; Almudena Avila-Fernandez; Carmen Ayuso; Montserrat Baiget; Sara Bernal; Fiona Blanco-Kelly; Manuel Diaz-Llopis; Elena Aller
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.
Orphanet journal of rare diseases 2011;6():65.
2011: Maria Garcia-Hoyos; Carmen Laura Auz-Alexandre; Berta Almoguera; Diego Cantalapiedra; Rosa Riveiro-Alvarez; Miguel Angel Lopez-Martinez; Ascension Gimenez; Fiona Blanco-Kelly; Almudena Avila-Fernandez; Maria J Trujillo Tiebas; Blanca Garcia-Sandoval; Carmen Ramos; Carmen Ayuso
Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.
Molecular vision 2011;17():1103-9.
2011: José M Millán; Elena Aller; Teresa Jaijo; Fiona Blanco-Kelly; Ascensión Gimenez-Pardo; Carmen Ayuso
An update on the genetics of usher syndrome.
Journal of ophthalmology 2011;2011():417217.
2010: Mónica Martínez-García; Isabel Lorda-Sanchez; Maria García-Hoyos; Carmen Ramos; Carmen Ayuso; Maria J Trujillo Tiebas
[Holt-Oram syndrome: study of 7 cases].
Medicina clínica 2010;135(14):653-7.
2010: Elena Aller; Teresa Jaijo; Gema García-García; M José Aparisi; David Blesa; Manuel Díaz-Llopis; Carmen Ayuso; José M Millán
Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome.
Investigative ophthalmology & visual science 2010;51(11):5480-5.
2010: Ramón Vilana; Alejandro Forner; A García; Carmen Ayuso; Concepció Bru
[Hepatocellular carcinoma: diagnosis, staging, and treatment strategy].
Radiología 2010;52(5):385-98.
2010: Monica Martinez-Garcia; Rosa Riveiro-Alvarez; Cristina Villaverde-Montero; Diego Cantalapiedra; Blanca Garcia-Sandoval; Carmen Ayuso; Maria J Trujillo Tiebas
Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism.
Clinical & experimental ophthalmology 2010;38(5):489-95.
2010: Darryl Y Nishimura; Lisa M Baye; Rahat Perveen; Charles C Searby; Almudena Avila-Fernandez; Ines Pereiro; Carmen Ayuso; Diana Valverde; Paul N Bishop; Forbes D C Manson; Jill Urquhart; Edwin M Stone; Diane C Slusarski; Graeme C M Black; Val C Sheffield
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.
American journal of human genetics 2010;86(5):686-95.
2010: Jana Aguirre-Lamban; Rosa Riveiro-Alvarez; Maria Garcia-Hoyos; Diego Cantalapiedra; Almudena Avila-Fernandez; Cristina Villaverde-Montero; Maria Jose Trujillo-Tiebas; Carmen Ramos; Carmen Ayuso
Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene.
Investigative ophthalmology & visual science 2010;51(5):2615-9.
2010: Teresa Jaijo; Elena Aller; Gema García-García; María J Aparisi; Sara Bernal; Almudena Avila-Fernández; Isabel Barragán; Montserrat Baiget; Carmen Ayuso; Guillermo Antiñolo; Manuel Díaz-Llopis; Maigi Külm; Magdalena Beneyto; Carmen Nájera; Jose M Millán
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
Investigative ophthalmology & visual science 2010;51(3):1311-7.
2010: Jana Aguirre-Lamban; R Riveiro-Alvarez; D Cantalapiedra; M Garcia-Hoyos; A Avila-Fernandez; C Villaverde-Montero; M J Trujillo-Tiebas; Carmen Ayuso
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.
Human genetics 2010;127(1):119.
2010: Jana Aguirre-Lamban; R Riveiro-Alvarez; D Cantalapiedra; M Garcia-Hoyos; A Avila-Fernandez; C Villaverde-Montero; M J Trujillo-Tiebas; Carmen Ayuso
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.
Human genetics 2010;127(1):119.
2009: Rosa Riveiro-Alvarez; Maria J Trujillo Tiebas; Ascension Gimenez-Pardo; Maria Garcia-Hoyos; Miguel-Angel Lopez-Martinez; Jana Aguirre-Lamban; Blanca Garcia-Sandoval; Silvia Vazquez-Fernandez del Pozo; Diego Cantalapiedra; Almudena Avila-Fernandez; Montserrat Baiget; Carmen Ramos; Carmen Ayuso
Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis.
Investigative ophthalmology & visual science 2009;50(9):4342-50.
2009: Maria J Trujillo Tiebas; M Fenollar-Cortés; Isabel Lorda-Sánchez; J Díaz-Recasens; A Carrillo Redondo; C Ramos-Corrales; Carmen Ayuso
Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience : prenatal diagnosis in FGFR3 gene.
Journal of assisted reproduction and genetics 2009;26(8):455-60.
2009: Jana Aguirre-Lamban; R Riveiro-Alvarez; M Garcia-Hoyos; D Cantalapiedra; M Martinez-Garcia; E Vallespin; A Avila-Fernandez; C Villaverde-Montero; M J Trujillo-Tiebas; Carmen Ayuso
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.
Human genetics 2009;126(2):341.
2009: Jana Aguirre-Lamban; R Riveiro-Alvarez; D Cantalapiedra; A Avila-Fernandez; E Vallespin; C Villaverde-Montero; B Gomez-Dominguez; C L Auz-Alexandre; M J Trujillo-Tiebas; Carmen Ayuso
Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy.
Human genetics 2009;126(2):330.
2009: Jana Aguirre-Lamban; Rosa Riveiro-Alvarez; S Maia-Lopes; D Cantalapiedra; E Vallespin; A Avila-Fernandez; C Villaverde-Montero; M J Trujillo-Tiebas; Carmen Ramos; Carmen Ayuso
Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.
The British journal of ophthalmology 2009;93(5):614-21.
2009: Diana Valverde; Ines Pereiro; Elena Vallespín; Carmen Ayuso; Salud Borrego; Montserrat Baiget
Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations.
Investigative ophthalmology & visual science 2009;50(3):1065-8.
2009: Alejandro Forner; Carmen Ayuso; María Isabel Real; Javier Sastre; Ricardo Robles; Bruno Sangro; María Varela; Manuel De la Mata; María Buti; Luis Marti-Bonmati; Concepció Bru; Josep Tabernero; Josep M Llovet; Jordi Bruix
[Diagnosis and treatment of hepatocellular carcinoma].
Medicina clínica 2009;132(7):272-87.
2009: Susana Maia-Lopes; Jana Aguirre-Lamban; Miguel Castelo-Branco; Rosa Riveiro-Alvarez; Carmen Ayuso; Eduardo Duarte Silva
ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis.
Molecular vision 2009;15():584-91.
2008: A Bustamante-Aragones; Maria J Trujillo Tiebas; J Gallego-Merlo; Marta Rodriguez de Alba; Cristina Gonzalez-Gonzalez; Diego Cantalapiedra; Carmen Ayuso; Carmen Ramos
Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2008;15(12):1338-44.
2008: Ana Bustamante-Aragones; Jesus Gallego-Merlo; Maria Jose Trujillo-Tiebas; Marta Rodriguez de Alba; Cristina Gonzalez-Gonzalez; Guillermo Glover; Dan Diego-Alvarez; Carmen Ayuso; Carmen Ramos
New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2008;7(6):505-10.
2008: Jana Aguirre-Lamban; R Riveiro-Alvarez; D Cantalapiedra; E Vallespin; A Avila-Fernandez; C Villaverde-Montero; M J Trujillo-Tiebas; Carmen Ayuso
Gene symbol: ABCA4. Disease: Macular dystrophy.
Human genetics 2008;124(3):321.
2008: Jana Aguirre-Lamban; R Riveiro-Alvarez; D Cantalapiedra; E Vallespin; A Avila-Fernandez; C Villaverde-Montero; M J Trujillo-Tiebas; Carmen Ayuso
Gene symbol: ABCA4. Disease: Macular dystrophy.
Human genetics 2008;124(3):319.
2008: Jana Aguirre-Lambán; R Riveiro-Alvarez; D Cantalapiedra; E Vallespin; A Avila-Fernandez; C Villaverde-Montero; M J Trujillo-Tiebas; Carmen Ayuso
Gene symbol: ABCA4. Disease: Macular dystrophy.
Human genetics 2008;124(3):314.
2008: MC González-González; Maria Garcia-Hoyos; Maria J Trujillo Tiebas; A Bustamante Aragonés; Marta Rodriguez de Alba; D Diego Alvarez; Joaquín Diaz-Recasens; Carmen Ayuso; Carmen Ramos
Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease.
Journal of assisted reproduction and genetics 2008;25(9-10):477-81.
2008: Salvador Navarro; Joaquín Amador; Lidia Argüello; Carmen Ayuso; Jaume Boadas; Gonzalo de Las Heras; Antonio Farré; Laureano Fernández-Cruz; Angels Ginés; Luisa Guarner; Antonio López Serrano; Josep Llach; Félix Lluis; Enrique de-Madaria; Juan Martínez; Raúl Mato; Xavier Molero; Lluís Oms; Miguel Pérez-Mateo; Eva Vaquero
[Recommendations of the Spanish Biliopancreatic Club for the Treatment of Acute Pancreatitis. Consensus development conference].
Gastroenterología y hepatología 2008;31(6):366-87.
2008: Almudena Avila-Fernandez; Rosa Riveiro-Alvarez; Elena Vallespin; Robert Wilke; Ignacio Tapias; Diego Cantalapiedra; Jana Aguirre-Lamban; Ascension Gimenez; Maria-Jose Trujillo-Tiebas; Carmen Ayuso
CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa.
Investigative ophthalmology & visual science 2008;49(6):2709-13.
2008: A Bustamante-Aragones; Marta Rodriguez de Alba; Cristina Gonzalez-Gonzalez; Maria J Trujillo Tiebas; Dan Diego-Alvarez; Elena Vallespin; J Plaza; Carmen Ayuso; Carmen Ramos
Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers.
Haemophilia : the official journal of the World Federation of Hemophilia 2008;14(3):593-8.
2008: Jordi Rimola; Sónia Rodríguez; Carmen Ayuso
[Magnetic resonance enterography in Crohn's disease: a new diagnostic tool?].
Medicina clínica 2008;130(15):580-4.
2008: Maria Garcia-Hoyos; Isabel Lorda-Sanchez; Pilar Gómez-Garre; Cristina Villaverde; Diego Cantalapiedra; Ana Bustamante; Dan Diego-Alvarez; Elena Vallespin; Jesus Gallego-Merlo; Maria Jose Trujillo; Carmen Ramos; Carmen Ayuso
New type of mutations in three spanish families with choroideremia.
Investigative ophthalmology & visual science 2008;49(4):1315-21.
2008: Ana Bustamante-Aragones; Elena Vallespin; Marta Rodriguez de Alba; Maria J Trujillo Tiebas; Cristina Gonzalez-Gonzalez; Dan Diego-Alvarez; Rosa Riveiro-Alvarez; Isabel Lorda-Sanchez; Carmen Ayuso; Carmen Ramos
Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.
Molecular vision 2008;14():1388-94.
2008: Rosa Riveiro-Alvarez; Elena Vallespin; Robert Wilke; Blanca Garcia-Sandoval; Diego Cantalapiedra; Jana Aguirre-Lamban; Almudena Avila-Fernandez; Ascension Gimenez; Maria-Jose Trujillo-Tiebas; Carmen Ayuso
Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa.
Molecular vision 2008;14():262-7.
2008: Alejandro Forner; Ramón Vilana; Carmen Ayuso; Lluís Bianchi; Manel Solé; Juan Ramón Ayuso; Loreto Boix; Margarita Sala; María Varela; Josep M Llovet; Concepció Brú; Jordi Bruix
Diagnosis of hepatic nodules 20 mm or smaller in cirrhosis: Prospective validation of the noninvasive diagnostic criteria for hepatocellular carcinoma.
Hepatology (Baltimore, Md.) 2008;47(1):97-104.
2007: Elena Vallespin; Diego Cantalapiedra; Rosa Riveiro-Alvarez; Robert Wilke; Jana Aguirre-Lamban; Almudena Avila-Fernandez; Miguel-Angel Lopez-Martinez; Ascension Gimenez; Maria Jose Trujillo-Tiebas; Carmen Ramos; Carmen Ayuso
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.
Investigative ophthalmology & visual science 2007;48(12):5653-61.
2007: Elena Vallespin; Diego Cantalapiedra; Rosa Riveiro-Alvarez; Jana Aguirre-Lamban; A Avila-Fernandez; M A Martinez; A Gimenez; Maria J Trujillo Tiebas; Carmen Ayuso
Human gene mutations. Gene symbol: CRB1. Disease: late onset retinitis pigmentosa.
Human genetics 2007;122(2):212.
2007: Elena Aller; Teresa Jaijo; Magdalena Beneyto; Carmen Nájera; Constantino Morera; Herminio Pérez-Garrigues; Carmen Ayuso; Jose Millán
Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome.
Ophthalmic genetics 2007;28(3):151-5.
2007: Dan Diego-Alvarez; Marta Rodriguez de Alba; Rocio Cardero-Merlo; Joaquin Diaz-Recasens; Carmen Ayuso; Carmen Ramos; Isabel Lorda-Sanchez
MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages.
Prenatal diagnosis 2007;27(8):765-71.
2007: Glòria Fernández-Esparrach; Angels Ginès; Marcelo Sánchez; Mario Pagés; Maria Pellisé; Laureano Fernández-Cruz; Miguel Angel López-Boado; Llorenç Quintó; Salvador Navarro; Oriol Sendino; Andrés Cárdenas; Carmen Ayuso; Josep Bordas; Josep Llach; Antoni Castells
Comparison of endoscopic ultrasonography and magnetic resonance cholangiopancreatography in the diagnosis of pancreatobiliary diseases: a prospective study.
The American journal of gastroenterology 2007;102(8):1632-9.
2007: Almudena Avila-Fernandez; Elena Vallespin; Diego Cantalapiedra; Rosa Riveiro-Alvarez; Ascension Gimenez; Maria J Trujillo Tiebas; Carmen Ayuso
Novel human pathological mutations. Gene symbol: GUCY2D. Disease: early onset retinitis pigmentosa.
Human genetics 2007;121(5):650-1.
2007: Cristina Villaverde; Maria J Trujillo Tiebas; Maria Garcia-Hoyos; R C Narvaiza; N Perez; Blanca Garcia-Sandoval; Carmen Ayuso
Novel human pathological mutations. Gene symbol: CHM. Disease: choroideraemia.
Human genetics 2007;121(5):648.
2007: Cristina Villaverde; Maria J Trujillo Tiebas; Maria Garcia-Hoyos; N Perez; R C Narvaiza; E Guillén; Carmen Ayuso
Novel human pathological mutations. Gene symbol: CHM. Disease: choroideraemia.
Human genetics 2007;121(5):648.
2007: Jana Aguirre-Lamban; Rosa Riveiro-Alvarez; Diego Cantalapiedra; Elena Vallespin; Maria J Trujillo Tiebas; Cristina Villaverde; Carmen Ayuso
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.
Human genetics 2007;121(5):648.
2007: Rosa Riveiro-Alvarez; Maria J Trujillo Tiebas; Ascension Gimenez; Diego Cantalapiedra; Elena Vallespin; Jana Aguirre-Lamban; Cristina Villaverde; Carmen Ayuso
Novel human pathological mutations. Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Human genetics 2007;121(5):647.
2007: Elena Vallespin; Rosa Riveiro-Alvarez; Diego Cantalapiedra; J Aguirre-Lambam; Almudena Avila-Fernandez; A Lopez-Gimenez-Pardo; Maria J Trujillo Tiebas; Carmen Ayuso
Gene symbol: CRB1.
Human genetics 2007;121(2):297-8.
2007: Maria J Trujillo Tiebas; P Gómez-Garré; N Pérez-González; Isabel Lorda-Sánchez; JM Serratosa; Carmen Ayuso
Gene symbol: EPM2A.
Human genetics 2007;121(2):290.
2007: Maria J Trujillo Tiebas; P Gómez-Garré; J Arguirre-Lambán; Isabel Lorda-Sánchez; JM Serratosa; Carmen Ayuso
Gene symbol: EPM2A.
Human genetics 2007;121(2):289-90.
2007: Maria J Trujillo Tiebas; P Gómez-Garré; M Fenolla-Cortés; Isabel Lorda-Sánchez; JM Serratosa; Carmen Ayuso
Gene symbol: EPM2A.
Human genetics 2007;121(2):289.
2007: Cristina Villaverde-Montero; Maria García-Hoyos; Ascensión Giménez Pardo; Maria J Trujillo Tiebas; Montserrat Baiget; Carmen Ayuso
Gene symbol: RP2.
Human genetics 2007;121(2):289.
2007: Elena Vallespin; Rosa Riveiro-Alvarez; Diego Cantalapiedra; J Aguirre-Lambam; Almudena Avila-Fernandez; Miguel-Angel Lopez-Martinez; J Gallego-Merlo; Maria J Trujillo Tiebas; Carmen Ayuso
Gene symbol: CRB1.
Human genetics 2007;121(2):287-8.
2007: Teresa Jaijo; Elena Aller; Magdalena Beneyto; C Najera; Claudio Graziano; Daniela Turchetti; Marco Seri; Carmen Ayuso; Montserrat Baiget; F Moreno; Constantino Morera; H Perez-Garrigues; J M Millan
MYO7A mutation screening in Usher syndrome type I patients from diverse origins.
Journal of medical genetics 2007;44(3):e71.
2007: Diana Valverde; Rosa Riveiro-Alvarez; Jana Aguirre-Lamban; Montserrat Baiget; Miguel Carballo; Guillermo Antiñolo; José Maria Millán; Blanca Garcia-Sandoval; Carmen Ayuso
Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients.
Investigative ophthalmology & visual science 2007;48(3):985-90.
2007: María Varela; Maria Isabel Real; Marta Burrel; Alejandro Forner; Margarita Sala; Mercé Brunet; Carmen Ayuso; Lluis Castells; Xavier Montañá; Josep M Llovet; Jordi Bruix
Chemoembolization of hepatocellular carcinoma with drug eluting beads: efficacy and doxorubicin pharmacokinetics.
Journal of hepatology 2007;46(3):474-81.
2007: Victor Martinez-Glez; Isabel Lorda-Sanchez; Jose Manuel Ramirez; Pedro Ruiz-Barnes; Marta Rodriguez de Alba; Dan Diego-Alvarez; Carmen Ramos; Charles C Searby; Darryl Y Nishimura; Carmen Ayuso
Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion.
European journal of medical genetics 2007;50(2):120-7.
2007: Elena Vallespin; J M Millan; Rosa Riveiro-Alvarez; Jana Aguirre-Lamban; Diego Cantalapiedra; J Gallego; Maria J Trujillo Tiebas; Carmen Ayuso
Gene symbol: CRB1.
Human genetics 2007;120(6):914.
2007: Elena Vallespin; Miguel-Angel Lopez-Martinez; Diego Cantalapiedra; Rosa Riveiro-Alvarez; Jana Aguirre-Lamban; Almudena Avila-Fernandez; Cristina Villaverde; Maria J Trujillo Tiebas; Carmen Ayuso
Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.
Molecular vision 2007;13():2160-2.
2007: María José Gamundi; Imma Hernan; Marta Muntanyola; Maria Jose Trujillo; Blanca García Sandoval; Carmen Ayuso; Montserrat Baiget; Miguel Carballo
High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.
Molecular vision 2007;13():1031-7.
2007: Rosa Riveiro-Alvarez; Diana Valverde; Isabel Lorda-Sanchez; Maria J Trujillo Tiebas; Diego Cantalapiedra; Elena Vallespin; Jana Aguirre-Lamban; Carmen Ramos; Carmen Ayuso
Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease.
Molecular vision 2007;13():96-101.
2006: Elena Aller; Teresa Jaijo; Magdalena Beneyto; Carmen Nájera; Silvestre Oltra; Carmen Ayuso; Montserrat Baiget; Miguel Carballo; Guillermo Antiñolo; Diana Valverde; F Moreno; Concha Vilela; D Collado; Herminio Pérez-Garrigues; Amparo Navea; José M Millán
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.
Journal of medical genetics 2006;43(11):e55.
2006: Ramón Vilana; Luis Bianchi; M Varela; Carlos Nicolau; M Sánchez; Carmen Ayuso; M García; Margarita Sala; Josep M Llovet; Jordi Bruix; Concepció Bru
Is microbubble-enhanced ultrasonography sufficient for assessment of response to percutaneous treatment in patients with early hepatocellular carcinoma?
European radiology 2006;16(11):2454-62.
2006: Carmen Ayuso; M Sánchez; Juan Ramón Ayuso; Teresa M De Caralt; Carmen de Juan
[Diagnosis and staging of carcinoma of the pancreas (II)].
Radiología 2006;48(5):283-94.
2006: Carmen Ayuso; M Sánchez; Juan Ramón Ayuso; Teresa M De Caralt; Carmen de Juan
[Diagnosis and staging of carcinoma of the pancreas (I)].
Radiología 2006;48(5):273-82.
2006: Ana Bustamante-Aragones; Maria Garcia-Hoyos; Marta Rodriguez de Alba; Cristina Gonzalez-Gonzalez; Isabel Lorda-Sanchez; Dan Diego-Alvarez; Maria J Trujillo Tiebas; Carmen Ayuso; Carmen Ramos
Detection of a paternally inherited fetal mutation in maternal plasma by the use of automated sequencing.
Annals of the New York Academy of Sciences 2006;1075():108-17.
2006: Maria García-Hoyos; Blanca Garcia-Sandoval; Diego Cantalapiedra; Rosa Riveiro; Isabel Lorda-Sánchez; Maria J Trujillo Tiebas; Marta Rodriguez de Alba; Jose Maria Millan; Montserrat Baiget; Carmen Ramos; Carmen Ayuso
Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa.
Investigative ophthalmology & visual science 2006;47(9):3777-82.
2006: Elena Vallespin; Rosa Riveiro-Alvarez; Jana Aguirre-Lamban; Diego Cantalapiedra; I Tapias; Blanca Garcia-Sandoval; Maria J Trujillo Tiebas; Carmen Ayuso
Gene symbol: CRB1. Disease: early onset retinitis pigmentosa.
Human genetics 2006;119(6):681.
2006: Rosa Riveiro-Alvarez; Maria Jose Trujillo; Ascension Gimenez; Diego Cantalapiedra; Elena Vallespin; Cristina Villaverde; Carmen Ayuso
Gene symbol: NDP. Disease: Norrie disease.
Human genetics 2006;119(6):675.
2006: Rosa Riveiro-Alvarez; Maria Jose Trujillo; Diego Cantalapiedra; Elena Vallespin; Cristina Villaverde; Diana Valverde; Carmen Ayuso
Gene symbol: ABCA4. Disease: Stargardt disease 1.
Human genetics 2006;119(6):671.
2006: Rosa Morínigo; Melina M Musri; Josep Vidal; Roser Casamitjana; Salvadora Delgado; Antonio M Lacy; Carmen Ayuso; Ramon Gomis; Helena Corominola
Intra-abdominal fat adiponectin receptors expression and cardiovascular metabolic risk factors in obesity and diabetes.
Obesity surgery 2006;16(6):745-51.
2006: Maria J Trujillo Tiebas; Cristina González-González; Isabel Lorda-Sánchez; M E Querejeta; Carmen Ayuso; Carmen Ramos
Prenatal diagnosis of 46, XX male fetus.
Journal of assisted reproduction and genetics 2006;23(5):253-4.
2006: Dan Diego-Alvarez; Carmen Ramos-Corrales; Maria Garcia-Hoyos; Ana Bustamante-Aragones; Diego Cantalapiedra; Joaquin Diaz-Recasens; Elena Vallespin-Garcia; Carmen Ayuso; Isabel Lorda-Sanchez
Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach.
Human reproduction (Oxford, England) 2006;21(4):958-66.
2006: Teresa Jaijo; Elena Aller; Silvestre Oltra; Magdalena Beneyto; Carmen Nájera; Carmen Ayuso; Montserrat Baiget; Miguel Carballo; Guillermo Antiñolo; Diana Valverde; F Moreno; Concha Vilela; H Perez-Garrigues; Amparo Navea; José M Millán
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.
Human mutation 2006;27(3):290-1.
2006: Rosa Riveiro-Alvarez; Maria Jose Trujillo; Diego Cantalapiedra; Elena Vallespin; Cristina Villaverde; Diana Valverde; Carmen Ayuso
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hs0512.
Human genetics 2006;118(6):784.
2006: Elena Vallespin; Diego Cantalapiedra; Maria Garcia-Hoyos; Rosa Riveiro; A Queipo; Maria J Trujillo Tiebas; Carmen Ayuso
Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hm0540.
Human genetics 2006;118(6):778.
2006: Rosa Riveiro-Alvarez; J Aguirre; Maria Jose Trujillo; Diego Cantalapiedra; Elena Vallespin; Cristina Villaverde; Diana Valverde; Carmen Ayuso
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0538.
Human genetics 2006;118(6):778.
2006: Rosa Riveiro-Alvarez; Maria Jose Trujillo; Diego Cantalapiedra; Elena Vallespin; Cristina Villaverde; Diana Valverde; Carmen Ayuso
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0537.
Human genetics 2006;118(6):777-8.
2006: Rosa Riveiro-Alvarez; Maria Jose Trujillo; Diego Cantalapiedra; Elena Vallespin; Cristina Villaverde; Diana Valverde; Carmen Ayuso
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0536.
Human genetics 2006;118(6):777.
2006: Elena Vallespin; Diego Cantalapiedra; Maria Garcia-Hoyos; Rosa Riveiro; Cristina Villaverde; Maria J Trujillo Tiebas; Carmen Ayuso
Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hm0534.
Human genetics 2006;118(6):777.
2006: Elena Vallespin; Diego Cantalapiedra; Maria Garcia-Hoyos; Rosa Riveiro; Cristina Villaverde; Maria J Trujillo Tiebas; Carmen Ayuso
Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hd0510.
Human genetics 2006;118(6):774.
2006: Diana Valverde; Rosa Riveiro-Alvarez; Sara Bernal; Kaie Jaakson; Montserrat Baiget; Rafael Navarro; Carmen Ayuso
Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: evidence of a prevalent mutated allele.
Molecular vision 2006;12():902-8.
2006: María José Gamundi; Imma Hernan; María Martínez-Gimeno; Miquel Maseras; Blanca García Sandoval; Carmen Ayuso; Guillermo Antiñolo; Montserrat Baiget; Miguel Carballo
Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.
BMC medical genetics 2006;7():35.
2005: Rosa Riveiro; Maria J Trujillo Tiebas; Ascension Gimenez; Maria Garcia-Hoyos; Diego Cantalapiedra; Elena Vallespin; A Queipo; Carmen Ramos; Carmen Ayuso
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Human genetics 2005;118(3-4):536.
2005: Rosa Riveiro; Maria J Trujillo Tiebas; Ascension Gimenez; Maria Garcia-Hoyos; Diego Cantalapiedra; Elena Vallespin; A Queipo; Carmen Ramos; Carmen Ayuso
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Human genetics 2005;118(3-4):536.
2005: Rosa Riveiro; Maria J Trujillo Tiebas; Ascension Gimenez; Maria Garcia-Hoyos; Diego Cantalapiedra; Elena Vallespin; A Queipo; Carmen Ramos; Carmen Ayuso
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Human genetics 2005;118(3-4):535.
2005: Rosa Riveiro; Maria J Trujillo Tiebas; Ascension Gimenez; Maria Garcia-Hoyos; Diego Cantalapiedra; Elena Vallespin; A Queipo; Carmen Ramos; Carmen Ayuso
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Human genetics 2005;118(3-4):535.
2005: Rosa Riveiro-Alvarez; Maria J Trujillo Tiebas; Ascension Gimenez; M Garcia-Hoyas; Diego Cantalapiedra; Elena Vallespin; A Queipo; Carmen Ramos; Carmen Ayuso
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Human genetics 2005;118(3-4):534.
2005: Maria García-Hoyos; Raul Sanz; Dan Diego-Alvarez; Isabel Lorda-Sánchez; Maria J Trujillo Tiebas; Diego Cantalapiedra; Carmen Ramos; Carmen Ayuso
New approach for the refinement of the location of the X-chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation.
American journal of medical genetics. Part A 2005;138(4):365-8.
2005: Isabel Lorda-Sánchez; Dan Diego-Alvarez; Carmen Ayuso; Marta Rodríguez de Alba; Maria Jose Trujillo; Carmen Ramos
Trisomy 2 due to a 3:1 segregation in an abortion studied by QF-PCR and CGH.
Prenatal diagnosis 2005;25(10):934-8.
2005: Sara Bernal; C Medà; T Solans; Carmen Ayuso; Blanca Garcia-Sandoval; Diana Valverde; Elisabeth del Rio; Montserrat Baiget
Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.
Clinical genetics 2005;68(3):204-14.
2005: Dan Diego-Alvarez; Maria Garcia-Hoyos; Maria Jose Trujillo; Cristina Gonzalez-Gonzalez; Marta Rodriguez de Alba; Carmen Ayuso; Carmen Ramos-Corrales; Isabel Lorda-Sanchez
Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages.
Human reproduction (Oxford, England) 2005;20(5):1235-43.
2005: Cristina González-González; Maria Garcia-Hoyos; Maria J Trujillo Tiebas; Isabel Lorda-Sanchez; Marta Rodríguez de Alba; Fernando Infantes; Jesus Gallego; Joaquin Diaz-Recasens; Carmen Ayuso; Carmen Ramos
Application of fetal DNA detection in maternal plasma: a prenatal diagnosis unit experience.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2005;53(3):307-14.
2005: Maria Saura; Montse Cabana; Carmen Ayuso; Diana Valverde
Mutations including the promoter region of myocilin/TIGR gene.
European journal of human genetics : EJHG 2005;13(3):384-7.
2005: María José Gamundi; Imma Hernan; Miquel Maseras; Montserrat Baiget; Carmen Ayuso; Salud Borrego; Guillermo Antiñolo; José M Millán; Diana Valverde; Miguel Carballo
Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration.
Molecular vision 2005;11():922-8.
2005: Rosa Riveiro-Alvarez; Maria J Trujillo Tiebas; Ascension Gimenez-Pardo; Maria Garcia-Hoyos; Diego Cantalapiedra; Isabel Lorda-Sanchez; Marta Rodriguez de Alba; Carmen Ramos; Carmen Ayuso
Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.
Molecular vision 2005;11():705-12.
2004: Margarita Sala; Josep M Llovet; Ramón Vilana; Lluís Bianchi; Manel Solé; Carmen Ayuso; Concepció Brú; Jordi Bruix
Initial response to percutaneous ablation predicts survival in patients with hepatocellular carcinoma.
Hepatology (Baltimore, Md.) 2004;40(6):1352-60.
2004: Juan Ramón Ayuso; Teresa M De Caralt; Mario Pages; Vicente Riambau; Carmen Ayuso; Marcelo Sanchez; Maria Isabel Real; Xavier Montaña
MRA is useful as a follow-up technique after endovascular repair of aortic aneurysms with nitinol endoprostheses.
Journal of magnetic resonance imaging : JMRI 2004;20(5):803-10.
2004: Juan Ramón Ayuso; Carmen Ayuso; Ernest Bombuy; Carmen de Juan; Josep M Llovet; Teresa M De Caralt; Marcel Sánchez; Mario Pagés; Jordi Bruix; Juan Carlos García-Valdecasas
Preoperative evaluation of biliary anatomy in adult live liver donors with volumetric mangafodipir trisodium enhanced magnetic resonance cholangiography.
Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society 2004;10(11):1391-7.
2004: Maria Garcia-Hoyos; Diego Cantalapiedra; Carolina Arroyo; Pilar Esteve; Josana Rodríguez; Rosa Riveiro; Maria Jose Trujillo; Carmen Ramos; Paola Bovolenta; Carmen Ayuso
Evaluation of SFRP1 as a candidate for human retinal dystrophies.
Molecular vision 2004;10():426-31.
2004: Antonio Soriano; Antoni Castells; Carmen Ayuso; Juan Ramón Ayuso; Maria Teresa de Caralt; Maria Angels Ginès; Maria Isabel Real; Rosa Gilabert; Llorenç Quintó; Antoni Trilla; Faust Feu; Xavier Montanyà; Laureano Fernández-Cruz; Salvador Navarro
Preoperative staging and tumor resectability assessment of pancreatic cancer: prospective study comparing endoscopic ultrasonography, helical computed tomography, magnetic resonance imaging, and angiography.
The American journal of gastroenterology 2004;99(3):492-501.
2004: Maria J Trujillo Tiebas; J Gallego; M García; Isabel Lorda-Sanchez; Carmen Ramos; Carmen Ayuso
Gene symbol: CFTR. Disease: Cystic fibrosis.
Human genetics 2004;114(4):403.
2003: Marta Burrel; Josep M Llovet; Carmen Ayuso; Carmela Iglesias; Margarita Sala; Rosa Miquel; Teresa Caralt; Juan Ramón Ayuso; Manel Solé; Marcelo Sanchez; Concepció Brú; Jordi Bruix
MRI angiography is superior to helical CT for detection of HCC prior to liver transplantation: an explant correlation.
Hepatology (Baltimore, Md.) 2003;38(4):1034-42.
2003: Isabel Lorda-Sanchez; Maria Jose Trujillo; Pilar Gomez-Garre; Marta Rodríguez de Alba; Cristina Gonzalez-Gonzalez; Maria García-Hoyos; Carmen Ayuso; Carmen Ramos
Turner phenotype in a girl with a 45,X/46,XX/47,XX,+18 mosaicism.
American journal of medical genetics. Part A 2003;121A(1):20-4.
2003: Sara Bernal; M Calaf; Maria Garcia-Hoyos; Blanca Garcia-Sandoval; J Rosell; Ana Adan; Carmen Ayuso; Montserrat Baiget
Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa.
Journal of medical genetics 2003;40(7):e89.
2003: Juan Carlos García-Valdecasas; Josep Fuster; Ramón Charco; Ernest Bombuy; Constantino Fondevila; Joana Ferrer; Carmen Ayuso; Pilar Taura
Changes in portal vein flow after adult living-donor liver transplantation: does it influence postoperative liver function?
Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society 2003;9(6):564-9.
2003: María Martínez-Gimeno; María José Gamundi; Imma Hernan; Miquel Maseras; Elena Millá; Carmen Ayuso; Blanca García Sandoval; Magdalena Beneyto; Concha Vilela; Montserrat Baiget; Guillermo Antiñolo; Miguel Carballo
Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.
Investigative ophthalmology & visual science 2003;44(5):2171-7.
2003: MC González-González; Maria Jose Trujillo; MR Rodríguez De Alba; Maria García-Hoyos; Isabel Lorda-Sánchez; J Díaz-Recasens; Carmen Ayuso; Carmen Ramos
Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR.
Prenatal diagnosis 2003;23(3):232-4.
2003: Ramón Vilana; Josep M Llovet; Luis Bianchi; Marcelo Sanchez; Mario Pagés; Margarita Sala; Rosa Gilabert; Carlos Nicolau; Angeles Garcia; Carmen Ayuso; Jordi Bruix; Concepció Bru
Contrast-enhanced power Doppler sonography and helical computed tomography for assessment of vascularity of small hepatocellular carcinomas before and after percutaneous ablation.
Journal of clinical ultrasound : JCU 2003;31(3):119-28.
2003: Sara Bernal; Carmen Ayuso; Guillermo Antiñolo; Ascension Gimenez; Salud Borrego; Maria Jose Trujillo; Irene Marcos; M Calaf; Elisabeth del Rio; Montserrat Baiget
Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.
Journal of medical genetics 2003;40(1):e8.
2002: MC González-González; Maria García-Hoyos; Maria Jose Trujillo; MR Rodríguez De Alba; Isabel Lorda-Sánchez; J Díaz-Recasens; E Gallardo; Carmen Ayuso; Carmen Ramos
Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma.
Prenatal diagnosis 2002;22(10):946-8.
2002: Eva Paloma; Amalia Martínez-Mir; Blanca García Sandoval; Carmen Ayuso; Lluïsa Vilageliu; Roser Gonzàlez-Duarte; Susana Balcells
Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa.
Journal of medical genetics 2002;39(10):E66.
2002: Carmen Nájera; Magdalena Beneyto; José Blanca; Elena Aller; Ana Fontcuberta; José M Millán; Carmen Ayuso
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
Human mutation 2002;20(1):76-7.
2002: Josep M Llovet; Maria Isabel Real; Xavier Montaña; Ramon Planas; Susanna Coll; John Aponte; Carmen Ayuso; Margarita Sala; Jordi Muchart; Ricard Solà; Juan Rodés; Jordi Bruix
Arterial embolisation or chemoembolisation versus symptomatic treatment in patients with unresectable hepatocellular carcinoma: a randomised controlled trial.
Lancet 2002;359(9319):1734-9.
2002: Isabel Lorda-Sanchez; Raul Sanz; M A Diaz-Guillen; J Fernandez-Toral; DAMIA HEINE; Marta Rodriguez de Alba; Cristina Gonzalez-Gonzalez; Maria Jose Trujillo; Carmen Ramos; S Rodriguez De Cordoba; Carmen Ayuso
Aniridia as part of a WAGR syndrome in a girl whose brother presented hypospadias.
Genetic counseling (Geneva, Switzerland) 2002;13(2):171-7.
2001: Irene Marcos; Agustín Ruiz; Salud Borrego; Carmen Ayuso; Montserrat Baiget; Guillermo Antiñolo
[Molecular analysis of the RPE65 gene in 72 Spanish families with autosomal recessive retinitis pigmentosa].
Medicina clínica 2001;117(4):121-3.
2001: María Martinez-Gimeno; Miquel Maseras; Montserrat Baiget; M Beneito; Guillermo Antiñolo; Carmen Ayuso; Miguel Carballo
Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa.
Human mutation 2001;17(6):520.
2001: Josep M Llovet; Ramón Vilana; Concepció Brú; Lluís Bianchi; J M Salmeron; Loreto Boix; Sergi Ganau; Margarita Sala; M Pagès; Carmen Ayuso; Manel Solé; Juan Rodés; Jordi Bruix
Increased risk of tumor seeding after percutaneous radiofrequency ablation for single hepatocellular carcinoma.
Hepatology (Baltimore, Md.) 2001;33(5):1124-9.
2001: Isabel Lorda-Sanchez; Carmen Ayuso; Raul Sanz; AJ Ibañez
Does Bardet-Biedl syndrome have a characteristic face?
Journal of medical genetics 2001;38(5):E14.
2001: Sara Bernal; M Calaf; Ana Adan; T Solans; Diana Valverde; Carmen Ayuso; Montserrat Baiget
Evaluation of RLBP1 in 50 autosomal recessive retinitis pigmentosa and 4 retinitis punctata albescens Spanish families.
Ophthalmic genetics 2001;22(1):19-25.
2001: MR Rodríguez De Alba; Pilar Palomino; Cristina González-González; Isabel Lorda-Sanchez; MA Ibañez; Raul Sanz; JM Fernández-Moya; Carmen Ayuso; J Díaz-Recasens; Carmen Ramos
Prenatal diagnosis on fetal cells from maternal blood: practical comparative evaluation of the first and second trimesters.
Prenatal diagnosis 2001;21(3):165-70.
2001: Raul Sanz; Isabel Lorda-Sanchez; JM Fernández-Moya; S Cifuentes-Sulzberger; MR Rodríguez De Alba; MC Gonzalez-Gonzalez; MA Ibañez; M Robledo; Carmen Ayuso; Carmen Ramos
Chromosomal mosaicism for isochromosome 11q confined to CVS direct preparations.
Fetal diagnosis and therapy 2001;16(2):95-7.
2001: Isabel Lorda-Sanchez; C Tejedor; Raul Sanz; Marta Rodriguez de Alba; A de la Fuente; E Fernandez; Carmen Ayuso; Carmen Ramos
A maternal inherited translocation t(1;22)(q11;p11) in two infertile brothers.
Genetic counseling (Geneva, Switzerland) 2001;12(1):95-100.
2001: Maria Jose Trujillo; María Martinez-Gimeno; A Giménez; I Lorda; J Bueno; Blanca García Sandoval; Carmen Ramos; Miguel Carballo; Carmen Ayuso
Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS-peripherin gene in autosomal dominant macular dystrophies in Spanish families.
Human mutation 2001;17(1):80.
2000: Isabel Lorda-Sanchez; I Lopez-Pajares; M C Roche; Raul Sanz; Marta Rodriguez de Alba; MC Gonzalez-Gonzalez; AJ Ibañez; Carmen Ramos; Carmen Ayuso
Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child.
American journal of medical genetics 2000;95(4):336-8.
2000: Maria Jose Trujillo; Blanca Garcia-Sandoval; Isabel Lorda-Sanchez; Ascension Gimenez; Raul Sanz; MC Gonzalez-Gonzalez; AJ Ibañez; Carmen Ramos; Carmen Ayuso
Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family.
Ophthalmic genetics 2000;21(4):251-6.
2000: María Martínez-Gimeno; Maria Jose Trujillo; Blanca García Sandoval; T del Río; Miquel Maseras; Carmen Ayuso; Miguel Carballo
[Asp-190-Tyr mutation in the rhodopsin gene in a Spanish family with autosomic dominant pigmentary retinosis].
Medicina clínica 2000;115(18):699-703.
2000: Isabel Lorda-Sanchez; AJ Ibañez; Raul Sanz; Maria Jose Trujillo; M E Anabitarte; M E Querejeta; Marta Rodriguez de Alba; Ascension Gimenez; F Infantes; Carmen Ramos; Blanca Garcia-Sandoval; Carmen Ayuso
Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation.
Ophthalmic genetics 2000;21(3):185-9.
2000: María Martinez-Gimeno; Maria Jose Trujillo; I Lorda; Ascension Gimenez; M T Calvo; Carmen Ayuso; Miguel Carballo
Three novel mutations (P215L, T289P, and 3811-2 A-->G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families.
Human mutation 2000;16(1):95-6.
2000: Magdalena Beneyto; JM Cuevas; José M Millán; Carmen Espinós; E Mateu; P González-Cabo; Montserrat Baiget; M Doménech; Sara Bernal; Carmen Ayuso; Blanca García Sandoval; Maria Jose Trujillo; Salud Borrego; Guillermo Antiñolo; Miguel Carballo; Carmen Nájera
Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).
Ophthalmic genetics 2000;21(2):123-8.
2000: CM Reig; J M Trujillo; María Martinez-Gimeno; Blanca Garcia-Sandoval; T M Calvo; Carmen Ayuso; Miguel Carballo
Homozygous and heterozygous gly-188-Arg mutation of the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.
Ophthalmic genetics 2000;21(2):79-87.
2000: JM Fernández-Moya; Raul Sanz; MR Rodríguez De Alba; MA Ibañez; Carmen Ayuso; J Díaz-Recasens; M Robledo; Carmen Ramos
Sonographic, cytogenetic and DNA analysis in four 69,XXX fetuses diagnosed in the second trimester.
Fetal diagnosis and therapy 2000;15(2):97-101.
2000: Eva Paloma; Lars Hjelmqvist; M Bayés; Blanca García Sandoval; Carmen Ayuso; Susana Balcells; Roser Gonzàlez-Duarte
Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa.
Investigative ophthalmology & visual science 2000;41(3):656-9.
2000: Isabel Lorda-Sanchez; Carmen Ayuso; AJ Ibañez
Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome.
American journal of medical genetics 2000;90(1):80-1.
2000: Isabel Lorda-Sanchez; P J Garcia-Ruiz; Marta Rodriguez de Alba; Julio Montoya; Ana Playan; J L Sarasa; Maria Jose Trujillo; Raul Sanz; Carmen Ramos; Carmen Ayuso
A MELAS phenotype and a paternal inherited inversion of chromosome 10 in a female patient.
Genetic counseling (Geneva, Switzerland) 2000;11(3):261-5.
2000: Raul Sanz; Araceli del Arco; Carmen Ayuso; Carmen Ramos; Jorgina Satrústegui
Assignment of the calcium-binding mitochondrial carrier Aralar1 gene (SLC25A12) to human chromosome band 2q31 by in situ hybridization.
Cytogenetics and cell genetics 2000;89(3-4):143-4.
2000: Raul Sanz; M A Anabitarte; M E Querejeta; Isabel Lorda-Sanchez; MA Ibañez; MR Rodríguez De Alba; Carmen Ayuso; Carmen Ramos
Rapid identification of a small dicentric supernumerary marker derived from chromosome 16 with a modified FISH technique on amniotic fluid.
Prenatal diagnosis 2000;20(1):63-5.
2000: Josep M Llovet; Margarita Sala; Lluis Castells; Y Suarez; Ramón Vilana; L Bianchi; Carmen Ayuso; Víctor Vargas; Juan Rodés; Jordi Bruix
Randomized controlled trial of interferon treatment for advanced hepatocellular carcinoma.
Hepatology (Baltimore, Md.) 2000;31(1):54-8.
1999: MR Rodríguez De Alba; Pilar Palomino; A Jurado; Raul Sanz; MA Ibañez; JM Fernández-Moya; Carmen Ayuso; J Díaz-Recasens; Carlos Lahoz; Carmen Ramos
Prenatal diagnosis on fetal cells obtained from maternal peripheral blood: report of 66 cases.
Prenatal diagnosis 1999;19(10):934-40.
1999: MR Rodríguez De Alba; Raul Sanz; Isabel Lorda-Sanchez; JM Fernández-Moya; Carmen Ayuso; J Díaz-Recasens; Carmen Ramos
Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation.
Prenatal diagnosis 1999;19(9):884-6.
1999: JM Cuevas; Carmen Espinós; José M Millán; F Sánchez; Maria Jose Trujillo; Carmen Ayuso; Magdalena Beneyto; Carmen Nájera
Identification of three novel mutations in the MYO7A gene.
Human mutation 1999;14(2):181.
1999: Isabel Lorda-Sanchez; Maria Jose Trujillo; Ascension Gimenez; Blanca Garcia-Sandoval; A Franco; Raul Sanz; Marta Rodriguez de Alba; Carmen Ramos; Carmen Ayuso
Retinitis pigmentosa, mental retardation, marked short stature, and brachydactyly in two sibs.
Ophthalmic genetics 1999;20(2):127-31.
1999: Teresa M De Caralt; Juan Ramón Ayuso; Carmen Ayuso; W C Schorlemmer
Distortion of subcapsular hepatic hemangioma by hepatic cirrhosis.
Canadian Association of Radiologists journal = Journal l'Association canadienne des radiologistes 1999;50(2):137-8.
1999: Juan Ramón Ayuso; A Garcia-Criado; T M Caralt; Carmen Ayuso; Albert Torras; Teresa Ribalta
Atypical retroperitoneal fibrosis: MRI findings.
European radiology 1999;9(5):937-9.
1998: JM Cuevas; Carmen Espinós; José M Millán; F Sánchez; Maria Jose Trujillo; Blanca García Sandoval; Carmen Ayuso; Carmen Nájera; Magdalena Beneyto
Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.
Molecular and cellular probes 1998;12(6):417-20.
1998: Carmen Espinós; Carmen Nájera; José M Millán; Carmen Ayuso; Montserrat Baiget; Herminio Pérez-Garrigues; O Rodrigo; Concha Vilela; Magdalena Beneyto
Linkage analysis in Usher syndrome type I (USH1) families from Spain.
Journal of medical genetics 1998;35(5):391-8.
1998: Maria Jose Trujillo; T del Río; CM Reig; Javier Benítez; Blanca García Sandoval; Miguel Carballo; Carmen Ayuso
[The Pro347Leu mutation of the rhodopsin gene in a Spanish family with autosomal dominant pigmentary retinosis].
Medicina clínica 1998;110(13):501-4.
1998: Maria Jose Trujillo; José M Millán; Carmen Nájera; Magdalena Beneyto; Blanca García Sandoval; Marta Rodriguez de Alba; Raul Sanz; Carmen Ayuso
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Nature genetics 1998;18(1):11-2.
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