Username

Password

Preview

Sign-in free and Explore the Exciting World of BiomedExperts:

Over 1.500.000 Profiles
More than 1.800 Organizations worldwide
State of the Art Network Visualizations

Manage your own Profile
Locate Experts in your Country/Region
Locate Experts in your 1. and 2. Level Network
Connect to Experts Worldwide

NetworkView

Montserrat Baiget

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

Research Profile (preview)

Geographic Areas

Spain

Concepts & Ideas

Pedigree

Physiology

Procedures

Phenomena

Single-Stranded Conformational Polymorphism

Disorders

Genes & Molecular Sequences

Chemicals & Drugs

Sign-in to see full Profile

Sign-in to see all Coauthors

Publications

TOP 3
Ramsay Andrew J; Quesada Victor; Sanchez Mayka; Garabaya Cecilia; Sardà María P; Baiget Montserrat; Remacha Angel; Velasco Gloria; López-Otín Carlos
Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms.
Altès Albert; Bach Vanessa; Ruiz Angels; Esteve Anna; Felez Jordi; Remacha Angel F; Sardà M Pilar; Baiget Montserrat
Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene.
Belvís Robert; Tizzano Eduardo F; Martí-Fàbregas Joan; Leta Rubén G; Baena Manel; Carreras Francesc; Pons-Lladó Guillem; Baiget Montserrat; Martí-Vilalta Josep Lluis
Mutations in the NKX2-5 gene in patients with stroke and patent foramen ovale.

Sign-in to see all Publications

Sign in free and see...

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the visualized research activity
of experts around the globe

Sign-in to see more

Geonetwork of Montserrat Baiget (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

Sign-in to see more

All Publications

2009: Ramsay Andrew J; Quesada Victor; Sanchez Mayka; Garabaya Cecilia; Sardà María P; Baiget Montserrat; Remacha Angel; Velasco Gloria; López-Otín Carlos
Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms.
Human molecular genetics 2009;18(19):3673-83.
2009: Altès Albert; Bach Vanessa; Ruiz Angels; Esteve Anna; Felez Jordi; Remacha Angel F; Sardà M Pilar; Baiget Montserrat
Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene.
Annals of hematology 2009;88(10):951-5.
2009: Belvís Robert; Tizzano Eduardo F; Martí-Fàbregas Joan; Leta Rubén G; Baena Manel; Carreras Francesc; Pons-Lladó Guillem; Baiget Montserrat; Martí-Vilalta Josep Lluis
Mutations in the NKX2-5 gene in patients with stroke and patent foramen ovale.
Clinical neurology and neurosurgery 2009;111(7):574-8.
2009: Riveiro-Alvarez Rosa; Trujillo-Tiebas Maria-Jose; Gimenez-Pardo Ascension; Garcia-Hoyos Maria; Lopez-Martinez Miguel-Angel; Aguirre-Lamban Jana; Garcia-Sandoval Blanca; Vazquez-Fernandez del Pozo Silvia; Cantalapiedra Diego; Avila-Fernandez Almudena; Baiget Montserrat; Ramos Carmen; Ayuso Carmen
Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis.
Investigative ophthalmology & visual science 2009;50(9):4342-50.
2009: Altès Albert; Bach Vanessa; Ruiz Angels; Esteve Anna; Remacha Angel F; Sardà M Pilar; Felez Jordi; Baiget Montserrat
Does the SLC40A1 gene modify HFE-related haemochromatosis phenotypes?
Annals of hematology 2009;88(4):341-5.
2009: Valverde Diana; Pereiro Ines; Vallespín Elena; Ayuso Carmen; Borrego Salud; Baiget Montserrat
Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations.
Investigative ophthalmology & visual science 2009;50(3):1065-8.
2009: Alías Laura; Bernal Sara; Fuentes-Prior Pablo; Barceló María Jesus; Also Eva; Martínez-Hernández Rebeca; Rodríguez-Alvarez Francisco J; Martín Yolanda; Aller Elena; Grau Elena; Peciña Ana; Antiñolo Guillermo; Galán Enrique; Rosa Alberto L; Fernández-Burriel Miguel; Borrego Salud; Millán José M; Hernández-Chico Concepción; Baiget Montserrat; Tizzano Eduardo F
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.
Human genetics 2009;125(1):29-39.
2009: Freixenet Núria; Remacha Angel; Berlanga Eugenio; Caixàs Assumpta; Giménez-Palop Olga; Blanco-Vaca Francisco; Bach Vanessa; Baiget Montserrat; Sánchez Yolanda; Félez Jordi; González-Clemente José Miguel
Serum soluble transferrin receptor concentrations are increased in central obesity. Results from a screening programme for hereditary hemochromatosis in men with hyperferritinemia.
Clinica chimica acta; international journal of clinical chemistry 2009;400(1-2):111-6.
2008: Paré L; Marcuello E; Altés A; del Río E; Sedano L; Salazar J; Cortés A; Barnadas A; Baiget M
Pharmacogenetic prediction of clinical outcome in advanced colorectal cancer patients receiving oxaliplatin/5-fluorouracil as first-line chemotherapy.
British journal of cancer 2008;99(7):1050-5.
2008: Venceslá A; Fuentes-Prior P; Baena M; Quintana M; Baiget M; Tizzano E F
Severe haemophilia A in a female resulting from an inherited gross deletion and a de novo codon deletion in the F8 gene.
Haemophilia : the official journal of the World Federation of Hemophilia 2008;14(5):1094-8.
2008: Paré Laia; Salazar Juliana; del Rio Elisabeth; Baiget Montserrat; Altés Albert; Marcuello Eugenio; Paez David; Barnadas Agustí
Methylenetetrahydrofolate reductase gene polymorphisms: genomic predictors of clinical response to fluoropyrimidine-based chemotherapy in females.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2008;26(20):3468; author reply 3468-9.
2008: Remacha A F; Del Río E; Sardà M P; Canals C; Simó M; Baiget M
Role of (Glu --> Arg, Q5R) mutation of the intrinsic factor in pernicious anemia and other causes of low vitamin B12.
Annals of hematology 2008;87(7):599-600.
2008: Venceslá A; Baena M; Fares Taie L; Cornet M; Baiget M; Tizzano E F
Application of intron 9 and intron 25 dinucleotide repeats of the factor VIII gene for carrier diagnosis in haemophilia A.
Haemophilia : the official journal of the World Federation of Hemophilia 2008;14(3):489-93.
2008: Venceslá Adoración; Corral-Rodríguez María Angeles; Baena Manel; Cornet Mónica; Domènech Montserrat; Baiget Montserrat; Fuentes-Prior Pablo; Tizzano Eduardo F
Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites.
Blood 2008;111(7):3468-78.
2008: Hoskins Janelle M; Marcuello Eugenio; Altes Albert; Marsh Sharon; Maxwell Taylor; Van Booven Derek J; Paré Laia; Culverhouse Robert; McLeod Howard L; Baiget Montserrat
Irinotecan pharmacogenetics: influence of pharmacodynamic genes.
Clinical cancer research : an official journal of the American Association for Cancer Research 2008;14(6):1788-96.
2008: Gutiérrez-Enríquez Sara; Balmaña Judith; Baiget Montserrat; Díez Orland
Detection of the CHEK2 1100delC mutation by MLPA BRCA1/2 analysis: a worthwhile strategy for its clinical applicability in 1100delC low-frequency populations?
Breast cancer research and treatment 2008;107(3):455-7.
2008: Pascual Juan Carlos; Soler Joaquim; Barrachina Judith; Campins M Jose; Alvarez Enrique; Pérez Víctor; Cortés Anna; Baiget Montserrat
Failure to detect an association between the serotonin transporter gene and borderline personality disorder.
Journal of psychiatric research 2008;42(1):87-8.
2007: Gamez Josep; Also Eva; Alias Laura; Corbera-Bellalta Marc; Barceló Maria J; Centeno Maria; Raguer Nuria; Gratacós Margarita; Baiget Montserrat; Tizzano Eduardo F
Investigation of the role of SMN1 and SMN2 haploinsufficiency as a risk factor for Hirayama's disease: clinical, neurophysiological and genetic characteristics in a Spanish series of 13 patients.
Clinical neurology and neurosurgery 2007;109(10):844-8.
2007: Venceslá Adoración; Barceló María Jesús; Baena Manel; Quintana Manuel; Baiget Montserrat; Tizzano Eduardo F
Marker and real-time quantitative analyses to confirm hemophilia B carrier diagnosis of a complete deletion of the F9 gene.
Haematologica 2007;92(11):1583-4.
2007: Altes Albert; Ruiz Angels; Martinez Clara; Esteve Anna; Vela Maria Dolores; Remacha Angel Francisco; Sarda Pilar; Bach Vanessa; Baiget Montserrat
The relationship between iron overload and clinical characteristics in a Spanish cohort of 100 C282Y homozygous hemochromatosis patients.
Annals of hematology 2007;86(11):831-5.
2007: Crescenti A; Mas S; Gassó P; Baiget M; Bernardo M; Lafuente A
Simultaneous genotyping of CYP2D6*3, *4, *5 and *6 polymorphisms in a Spanish population through multiplex long polymerase chain reaction and minisequencing multiplex single base extension analysis.
Clinical and experimental pharmacology & physiology 2007;34(10):992-7.
2007: Alias Laura; Barceló Maria J; Gich Ignasi; Estapé Marta; Parra Juan; Amenedo Maria; Baiget Montserrat; Tizzano Eduardo F
Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy.
European journal of human genetics : EJHG 2007;15(10):1090-3.
2007: Paré Laia; Altés Albert; Ramón y Cajal Teresa; Del Rio Elisabeth; Alonso Carmen; Sedano Lidia; Barnadas Agusti; Baiget Montserrat
Influence of thymidylate synthase and methylenetetrahydrofolate reductase gene polymorphisms on the disease-free survival of breast cancer patients receiving adjuvant 5-fluorouracil/methotrexate-based therapy.
Anti-cancer drugs 2007;18(7):821-5.
2007: Pérez de los Cobos José; Siñol Núria; Trujols Joan; del Río Elisabeth; Bañuls Enrique; Luquero Elena; Menoyo Anna; Queraltó Josep Maria; Baiget Montserrat; Alvarez Enric
Association of CYP2D6 ultrarapid metabolizer genotype with deficient patient satisfaction regarding methadone maintenance treatment.
Drug and alcohol dependence 2007;89(2-3):190-4.
2007: Altes Albert; Remacha Angel Francisco; Sarda Pilar; Baiget Montserrat; Sureda Anna; Martino Rodrigo; Briones Javier; Brunet Salut; Canals Carme; Sierra Jorge
Early clinical impact of iron overload in stem cell transplantation. A prospective study.
Annals of hematology 2007;86(6):443-7.
2007: Villaverde-Montero Cristina; García-Hoyos M; Giménez-Pardo A; Trujillo-Tiebas M J; Baiget M; Ayuso C
Gene symbol: RP2.
Human genetics 2007;121(2):289.
2007: Jaijo T; Aller E; Beneyto M; Najera C; Graziano C; Turchetti D; Seri M; Ayuso C; Baiget M; Moreno F; Morera C; Perez-Garrigues H; Millan J M
MYO7A mutation screening in Usher syndrome type I patients from diverse origins.
Journal of medical genetics 2007;44(3):e71.
2007: Valverde Diana; Riveiro-Alvarez Rosa; Aguirre-Lamban Jana; Baiget Montserrat; Carballo Miguel; Antiñolo Guillermo; Millán José Maria; Garcia Sandoval Blanca; Ayuso Carmen
Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients.
Investigative ophthalmology & visual science 2007;48(3):985-90.
2007: Martorell Loreto; Cobo Ana Maria; Baiget Montserrat; Naudó Montserrat; Poza Juan José; Parra Juan
Prenatal diagnosis in myotonic dystrophy type 1. Thirteen years of experience: implications for reproductive counselling in DM1 families.
Prenatal diagnosis 2007;27(1):68-72.
2007: Gamundi María José; Hernan Imma; Muntanyola Marta; Trujillo María José; García-Sandoval Blanca; Ayuso Carmen; Baiget Montserrat; Carballo Miguel
High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.
Molecular vision 2007;13():1031-7.
2007: Perez de los Cobos Jose; Baiget Montserrat; Trujols Joan; Sinol Nuria; Volpini Victor; Banuls Enrique; Calafell Francesc; Luquero Elena; del Rio Elisabeth; Alvarez Enric
Allelic and genotypic associations of DRD2 TaqI A polymorphism with heroin dependence in Spanish subjects: a case control study.
Behavioral and brain functions : BBF 2007;3():25.
2006: Goldfrank Deborah; Chuai Shannon; Bernstein Jonine L; Ramon Y Cajal Teresa; Lee Johanna B; Alonso M Carmen; Diez Orland; Baiget Monserrat; Kauff Noah D; Offit Kenneth; Robson Mark
Effect of mammography on breast cancer risk in women with mutations in BRCA1 or BRCA2.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2006;15(11):2311-3.
2006: Aller E; Jaijo T; Beneyto M; Nájera C; Oltra S; Ayuso C; Baiget M; Carballo M; Antiñolo G; Valverde D; Moreno F; Vilela C; Collado D; Pérez-Garrigues H; Navea A; Millán J M
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: Corominas H; Fíguls R; Riera M; Baiget M
[Phenotype of ulcerative colitis, rheumatoid arthritis, and interleukin-10 gene polymorphism]
Revista española de enfermedades digestivas : organo oficial de la Sociedad Española de Patología Digestiva 2006;98(9):704-5.
2006: García-Hoyos Maria; Garcia-Sandoval Blanca; Cantalapiedra Diego; Riveiro Rosa; Lorda-Sánchez Isabel; Trujillo-Tiebas Maria Jose; Rodriguez de Alba Marta; Millan Jose Maria; Baiget Monserrat; Ramos Carmen; Ayuso Carmen
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: Menoyo Anna; del Rio Elisabeth; Baiget Montserrat
Characterization of variant alleles of cytochrome CYP2D6 in a Spanish population.
Cell biochemistry and function 2006;24(5):381-5.
2006: Altes Albert; Remacha Angel Francisco; Sarda Pilar; Baiget Montserrat; Canals Carme; Sierra Jordi
The relationship between transferrin saturation and erythropoiesis during stem cell transplantation.
Haematologica 2006;91(7):992-3.
2006: Marcuello E; Altés A; Menoyo A; Rio E Del; Baiget M
Methylenetetrahydrofolate reductase gene polymorphisms: genomic predictors of clinical response to fluoropyrimidine-based chemotherapy?
Cancer chemotherapy and pharmacology 2006;57(6):835-40.
2006: Remacha Angel F; Sardà M Pilar; Barceló M Jesús; Bach Vanessa; Altès Albert; Baiget Montserrat; Guarner Carlos; Blesa Irene
Genotype-phenotype correlation in a Spanish population homozygous for the H63D mutation of the HFE gene.
Annals of hematology 2006;85(5):340-2.
2006: Altés Albert; Ruiz M Angels; Remacha Angel F; Sardá Pilar; Baiget Montserrat; Sierra Jordi
[Treatment of type 1 hereditary haemochromatosis with oral magnesium]
Medicina clínica 2006;126(16):611-3.
2006: Barceló María Jesús; Alias Laura; Caselles Lídia; Robles Yolanda; Baiget Montserrat; Tizzano Eduardo F
Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch: lessons for carrier diagnosis.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(4):259-62.
2006: Corominas Hector; Domènech Montserrat; del Río Elisabeth; Gich Ignasi; Domingo Pere; Baiget Montserrat
[Frequency of thiopurine S-methyltransferase alleles in different ethnic groups living in Spain]
Medicina clínica 2006;126(11):410-2.
2006: Bach V; Barceló M J; Altés A; Remacha A; Félez J; Baiget M
Genotyping the HFE gene by melting point analysis with the LightCycler system: Pros and cons.
Blood cells, molecules & diseases 2006;36(2):288-91.
2006: Jaijo T; Aller E; Oltra S; Beneyto M; Nájera C; Ayuso C; Baiget M; Carballo M; Antiñolo G; Valverde D; Moreno F; Vilela C; Perez-Garrigues H; Navea A; Millán J M
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.
Human mutation 2006;27(3):290-1.
2006: Masoliver Elisabet; Menoyo Ana; Pérez Victor; Volpini Victor; Rio Elisabet Del; Pérez Josefina; Alvarez Enric; Baiget Monserrat
Serotonin transporter linked promoter (polymorphism) in the serotonin transporter gene may be associated with antidepressant-induced mania in bipolar disorder.
Psychiatric genetics 2006;16(1):25-9.
2006: Bach V; Remacha A; Altés A; Barceló M J; Molina M A; Baiget M
Autosomal dominant hereditary hemochromatosis associated with two novel Ferroportin 1 mutations in Spain.
Blood cells, molecules & diseases 2006;36(1):41-5.
2006: Cuscó I; Barceló M J; Rojas-García R; Illa I; Gámez J; Cervera C; Pou A; Izquierdo G; Baiget M; Tizzano E F
SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings.
Journal of neurology 2006;253(1):21-5.
2006: Valverde Diana; Riveiro-Alvarez Rosa; Bernal Sara; Jaakson Kaie; Baiget Montserrat; Navarro Rafael; Ayuso Carmen
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: Gamundi María José; Hernan Imma; Martínez-Gimeno María; Maseras Miquel; García-Sandoval Blanca; Ayuso Carmen; Antiñolo Guillermo; Baiget Montserrat; Carballo Miguel
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: Thompson Debra A; Janecke Andreas R; Lange Jessica; Feathers Kecia L; Hübner Christian A; McHenry Christina L; Stockton David W; Rammesmayer Gabriele; Lupski James R; Antinolo Guillermo; Ayuso Carmen; Baiget Montserrat; Gouras Peter; Heckenlively John R; den Hollander Anneke; Jacobson Samuel G; Lewis Richard A; Sieving Paul A; Wissinger Bernd; Yzer Suzanne; Zrenner Eberhart; Utermann Gerd; Gal Andreas
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
Human molecular genetics 2005;14(24):3865-75.
2005: Tizzano Eduardo F; Venceslá Adoracion; Baena Manel; Cornet Mónica; Calvo María T; Lucía José F; Pérez Garrido Rosario; Núñez Ramiro; Baiget Montserrat
First report of two independent point factorVIII mutations in a family with haemophilia a: a word of caution for carrier diagnosis.
Thrombosis and haemostasis 2005;94(3):675-7.
2005: Tizzano Eduardo F; Barceló María J; Baena Manel; Cornet Mónica; Venceslá Adoración; Mateo José; Fontcuberta Jordi; Baiget Montserrat
Rapid identification of female haemophilia A carriers with deletions in the factor VIII gene by quantitative real-time PCR analysis.
Thrombosis and haemostasis 2005;94(3):661-4.
2005: Bernal S; Medà C; Solans T; Ayuso C; Garcia-Sandoval B; Valverde D; Del Rio E; Baiget M
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: Balmaña Judith; Díez Orland; Campos Berta; Majewski Magdalena; Sanz Judit; Alonso Carmen; Baiget Montserrat; Garber Judy E
Sex ratio distortion in offspring of families with BRCA1 or BRCA2 mutant alleles: an ascertainment bias phenomenon?
Breast cancer research and treatment 2005;92(3):273-7.
2005: Vilchez Juan J; Gallano Pia; Gallardo Eduard; Lasa Adriana; Rojas-García Ricardo; Freixas Alba; De Luna Noemí; Calafell Francesc; Sevilla Teresa; Mayordomo Fernando; Baiget Montserrat; Illa Isabel
Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.
Archives of neurology 2005;62(8):1256-9.
2005: Tizzano E; Venceslá A; Cornet M; Baena M; Baiget M
Utility of a (GT) dinucleotide repeat in intron 1 of the factor 8 gene for haemophilia A carrier diagnosis.
Haemophilia : the official journal of the World Federation of Hemophilia 2005;11(2):142-4.
2005: Soler-Botija Carolina; Cuscó Ivón; Caselles Lídia; López Eva; Baiget Montserrat; Tizzano Eduardo F
Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function?
Journal of neuropathology and experimental neurology 2005;64(3):215-23.
2005: Soler-Botija Carolina; Cuscó Ivón; López Eva; Clua Agustín; Gich Ignasi; Baiget Montserrat; Ferrer Isidre; Tizzano Eduardo F
Choline acetyltransferase expression does not identify early pathogenic events in fetal SMA spinal cord.
Neuromuscular disorders : NMD 2005;15(3):253-8.
2005: Gamundi María José; Hernan Imma; Maseras Miquel; Baiget Montserrat; Ayuso Carmen; Borrego Salud; Antiñolo Guillermo; Millán José María; Valverde Diana; Carballo Miguel
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.
2004: Marcuello Eugenio; Altés Albert; del Rio Elisabeth; César Angeles; Menoyo Anna; Baiget Montserrat
Single nucleotide polymorphism in the 5' tandem repeat sequences of thymidylate synthase gene predicts for response to fluorouracil-based chemotherapy in advanced colorectal cancer patients.
International journal of cancer. Journal international du cancer 2004;112(5):733-7.
2004: Balmaña Judith; Sanz Judit; Bonfill Xavier; Casado Alfonso; Rué Montse; Gich Ignasi; Díez Orland; Sabaté Josep M; Baiget Montserrat; Alonso M Carmen
Genetic counseling program in familial breast cancer: analysis of its effectiveness, cost and cost-effectiveness ratio.
International journal of cancer. Journal international du cancer 2004;112(4):647-52.
2004: Campos Berta; Díez Orland; Alvarez Carolina; Palma Lorena; Domènech Montserrat; Balmaña Judith; Sanz Judit; Ramírez Amaya; Alonso Carmen; Carvallo Pilar; Baiget Montserrat
[Haplotype of the BRCA2 6857delAA mutation in 4 families with breast/ovarian cancer]
Medicina clínica 2004;123(14):543-5.
2004: Marcuello E; Altés A; Menoyo A; Del Rio E; Gómez-Pardo M; Baiget M
UGT1A1 gene variations and irinotecan treatment in patients with metastatic colorectal cancer.
British journal of cancer 2004;91(4):678-82.
2004: Cuscó I; Barceló M Jesus; del Río E; Baiget M; Tizzano E F
Detection of novel mutations in the SMN Tudor domain in type I SMA patients.
Neurology 2004;63(1):146-9.
2004: Alias Laura; Gallano Pía; Moreno Dolores; Pujol Ramón; Martínez-Matos Juan Antonio; Baiget Montserrat; Ferrer Isidro; Olivé Montse
A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.
Neuromuscular disorders : NMD 2004;14(5):321-4.
2004: Martorell L; Gámez J; Cayuela M L; Gould F K; McAbney J P; Ashizawa T; Monckton D G; Baiget M
Germline mutational dynamics in myotonic dystrophy type 1 males: allele length and age effects.
Neurology 2004;62(2):269-74.
2004: Gordon Marilyn M; Brada Nancy; Remacha Angel; Badell Isabel; del Río Elisabeth; Baiget Montserrat; Santer René; Quadros Edward V; Rothenberg Sheldon P; Alpers David H
A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency.
Human mutation 2004;23(1):85-91.
2004: Altes Albert; Ruiz Angels; Barceló Ma Jesus; Remacha Angel Francisco; Puig Teresa; Maya Antonio José; Castell Conxa; Amate Jose Ma; Saz Zuleika; Baiget Montserrat
Prevalence of the C282Y, H63D, and S65C mutations of the HFE gene in 1,146 newborns from a region of Northern Spain.
Genetic testing 2004;8(4):407-10.
2004: Estévez-González Armando; García-Sánchez Carmen; Boltes Anunciación; Otermín Pilar; Baiget Montserrat; Escartín Antonio; del Rio Elisabeth; Gironell Alex; Kulisevsky Jaime
Preclinical memory profile in Alzheimer patients with and without allele APOE-epsilon4.
European neurology 2004;51(4):199-205.
2004: Corominas Hèctor; Baiget Montserrat
Clinical utility of thiopurine S-methyltransferase genotyping.
American journal of pharmacogenomics : genomics-related research in drug development and clinical practice 2004;4(1):1-8.
2003: Campos Berta; Díez Orland; Domènech Montserrat; Baena Manel; Balmaña Judith; Sanz Judit; Ramírez Amaya; Alonso Carmen; Baiget Montserrat
RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain.
Human mutation 2003;22(4):337.
2003: Díez Orland; Osorio Ana; Durán Mercedes; Martinez-Ferrandis José Ignacio; de la Hoya Miguel; Salazar Raquel; Vega Ana; Campos Berta; Rodríguez-López Raquel; Velasco Eladio; Chaves Javier; Díaz-Rubio Eduardo; Jesús Cruz Juan; Torres María; Esteban Eva; Cervantes Andrés; Alonso Carmen; San Román Juan Manuel; González-Sarmiento Rogelio; Miner Cristina; Carracedo Angel; Eugenia Armengod María; Caldés Trinidad; Benítez Javier; Baiget Montserrat
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.
Human mutation 2003;22(4):301-12.
2003: Tizzano E F; Cornet M; Domènech M; Baiget M
Exclusion of mosaicism in Spanish haemophilia A families with inversion of intron 22.
Haemophilia : the official journal of the World Federation of Hemophilia 2003;9(5):584-7.
2003: Bellido Mar; Aventín Anna; Lasa Adriana; Estivill Camino; Carnicer Maria J; Pons Cristina; Matías-Guiu Xavier; Bordes Ramón; Baiget Montserrat; Sierra Jorge; Nomdedéu Josep F
Id4 is deregulated by a t(6;14)(p22;q32) chromosomal translocation in a B-cell lineage acute lymphoblastic leukemia.
Haematologica 2003;88(9):994-1001.
2003: Cuscó Ivon; López Eva; Soler-Botija Carolina; Jesús Barceló María; Baiget Montserrat; Tizzano Eduardo F
A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.
Human mutation 2003;22(2):136-43.
2003: Bernal S; Calaf M; Garcia-Hoyos M; Garcia-Sandoval B; Rosell J; Adan A; Ayuso C; Baiget M
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: Osorio Ana; de la Hoya Miguel; Rodríguez-López Raquel; Granizo Juan José; Díez Orland; Vega Ana; Durán Mercedes; Carracedo Angel; Baiget Montserrat; Caldés Trinidad; Benítez Javier
Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations.
European journal of human genetics : EJHG 2003;11(6):489-92.
2003: Martínez-Gimeno María; Gamundi María José; Hernan Imma; Maseras Miquel; Millá Elena; Ayuso Carmen; García-Sandoval Blanca; Beneyto Magdalena; Vilela Concha; Baiget Montserrat; Antiñolo Guillermo; Carballo Miguel
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: Soler-Botija Carolina; Ferrer Isidro; Alvarez Jose Luis; Baiget Montserrat; Tizzano Eduardo F
Downregulation of Bcl-2 proteins in type I spinal muscular atrophy motor neurons during fetal development.
Journal of neuropathology and experimental neurology 2003;62(4):420-6.
2003: Campos Berta; Díez Orland; Odefrey Fabrice; Domènech Montserrat; Moncoutier Virginie; Martínez-Ferrandis José Ignacio; Osorio Ana; Balmaña Judith; Barroso Alicia; Armengod María Eugenia; Benítez Javier; Alonso Carmen; Stoppa-Lyonnet Dominique; Goldgar David; Baiget Montserrat
Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain.
Human mutation 2003;21(4):452.
2003: Altes A; Remacha A F; Sureda A; Martino R; Briones J; Brunet S; Baiget M; Sierra J
Patients with biochemical iron overload: causes and characteristics of a cohort of 150 cases.
Annals of hematology 2003;82(2):127-30.
2003: Tizzano Eduardo F; Cornet Mónica; Baiget Montserrat
Inversion of intron 1 of the factor VIII gene for direct molecular diagnosis of hemophilia A.
Haematologica 2003;88(1):118-20.
2003: Bernal S; Ayuso C; Antiñolo G; Gimenez A; Borrego S; Trujillo M J; Marcos I; Calaf M; Del Rio E; Baiget M
Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.
Journal of medical genetics 2003;40(1):e8.
2003: Corominas H; Domènech M; Laíz A; Gich I; Geli C; Díaz C; de Cuevillas F; Moreno M; Vázquez G; Baiget M
Is thiopurine methyltransferase genetic polymorphism a major factor for withdrawal of azathioprine in rheumatoid arthritis patients?
Rheumatology (Oxford, England) 2003;42(1):40-5.
2002: Cuscó Ivon; Barceló María J; Baiget Montserrat; Tizzano Eduardo F
Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the SMN1 gene.
Human mutation 2002;20(6):452-9.
2002: Cuscó I; Barceló M J; Soler C; Parra J; Baiget M; Tizzano E
Prenatal diagnosis for risk of spinal muscular atrophy.
BJOG : an international journal of obstetrics and gynaecology 2002;109(11):1244-9.
2002: Gamez J; Barceló M J; Muñoz X; Carmona F; Cuscó I; Baiget M; Cervera C; Tizzano E F
Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients.
Neurology 2002;59(9):1456-60.
2002: Carnicer M J; Nomdedéu J F; Lasa A; Bellido M; Aventín A; Baiget M; Sierra J
AML-1 mutations outside the RUNT domain: description of two cases in myeloid malignancies.
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K 2002;16(11):2329-32.
2002: Corominas H; Díaz C; Vázquez G; Baiget M
[Pharmacogenetic study of thiopurine S-methyltransferase (TPMT) and thiopurine toxicity]
Revista española de enfermedades digestivas : organo oficial de la Sociedad Española de Patología Digestiva 2002;94(10):635-6.
2002: Balmaña Judith; Nomdedéu Josep; Díez Orland; Sabaté Josep Maria; Balil Anna; Pericay Carles; López López Juan José; Brunet Joan; Baiget Montse; Alonso Carmen
[Description of a new TP53 gene germline mutation in a family with the Li-Fraumeni syndrome. Genetic counselling to healthy mutation carriers]
Medicina clínica 2002;119(13):497-9.
2002: Rojas-García R; Tizzano E; Cuscó I; Gallardo E; Barceló M J; de Andrés I; Larrodé P; Martí-Massó J F; Martínez-Matos J A; Povedano M; Rallo B; Serrano S; Baiget M; Illa I
The absence of survival motor neuron 2 gene may play a role in multifocal motor neuropathy.
Neurology 2002;59(7):1112-3.
2002: Conte Ivan; Lestingi Marta; den Hollander Anneke; Miano Maria Giuseppina; Alfano Giovanna; Circolo Diego; Pugliese Mariarosaria; Testa Francesco; Simonelli Francesca; Rinaldi Ernesto; Baiget Montserrat; Banfi Sandro; Ciccodicola Alfredo
Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.
Gene 2002;297(1-2):33-8.
2002: Bellido Mar; Capello Daniela; Altés Albert; Estivill Camino; Gaidano Gianluca; Pujol Ramón; Bordes Ramón; Baiget Montserrat; Saglio Giuseppe; Sierra Jorge; Nomdedéu Josep F
Bcl-6 p53 mutations in lymphomas carrying the bcl-2/Jh rearrangement.
Haematologica 2002;87(9):908-17.
2002: Nomdedéu Josep F; Lasa Adriana; Ubeda Josep; Saglio Giuseppe; Bellido Mar; Casas Sílvia; Carnicer Maria J; Aventín Anna; Sureda Anna; Sierra Jorge; Baiget Montserrat
Interstitial deletions at the long arm of chromosome 13 may be as common as monosomies in multiple myeloma. A genotypic study.
Haematologica 2002;87(8):828-35.
2002: Mulero M C; Estivill C; Corral J; Sierra J; Baiget M; Nomdedéu J F
Sequence conservation of RAG-1 and RAG-2 genes in hematologic malignancies.
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K 2002;16(8):1571.
2002: Domingo Pere; Baiget Montserrat; Arroyo Juan A; Seco Luisa; Sambeat Maria A; Domenech Montserrat; Vazquez Guillermo
Absence of mutations in exon 8 of the gene in combination antiretroviral therapy-associated partial lipodystrophy.
Journal of acquired immune deficiency syndromes (1999) 2002;30(4):457-8.
2002: de la Hoya Miguel; Sulleiro Sara; Osorio Ana; Díez Orland; Baiget Montserrat; Benítez Javier; Díaz-Rubio Eduardo; Caldés Trinidad
Clustering of cancer-related mutations in a subset of BRCA1 alleles: a study in the Spanish population.
International journal of cancer. Journal international du cancer 2002;100(5):618-9.
2002: Soler-Botija Caroline; Ferrer Isidre; Gich Ignasi; Baiget Montserrat; Tizzano Eduardo F
Neuronal death is enhanced and begins during foetal development in type I spinal muscular atrophy spinal cord.
Brain : a journal of neurology 2002;125(Pt 7):1624-34.
2002: Tizzano E F; Cornet M; Domènech M; Baiget M
Modifier genes in haemophilia: their expansion in the human genome.
Haemophilia : the official journal of the World Federation of Hemophilia 2002;8(3):250-4.
2002: Tizzano Eduardo F; Soria José Manuel; Coll Immaculada; Guzmán Blanca; Cornet Mónica; Altisent Carmen; Martorell Marta; Domenech Montserrat; del Río Elisabeth; Fontcuberta Jordi; Baiget Montserrat
The prothrombin 20210A allele influences clinical manifestations of hemophilia A in patients with intron 22 inversion and without inhibitors.
Haematologica 2002;87(3):279-85.
2002: Seco M L; del Río E; Barceló M J; Remacha A; Ginovart G; Moliner E; Baiget M
[Interest in the study of genetic variants of the promoter region of the UGT1A1 gene in neonatal jaundice]
Anales españoles de pediatría 2002;56(2):139-43.
2002: Tizzano Eduardo F; Cuscó Ivón; Barceló María Jesús; Parra Juan; Baiget Montserrat
Should gamete donors be tested for spinal muscular atrophy?
Fertility and sterility 2002;77(2):409-11.
2001: Campos B; Diez O; Domènech M; Baena M; Pericay C; Balmaña J; del Rio E; Sanz J; Alonso C; Baiget M
BRCA2 mutation analysis of 87 Spanish breast/ovarian cancer families.
Annals of oncology : official journal of the European Society for Medical Oncology / ESMO 2001;12(12):1699-703.
2001: Gras E; Cortes J; Diez O; Alonso C; Matias-Guiu X; Baiget M; Prat J
Loss of heterozygosity on chromosome 13q12-q14, BRCA-2 mutations and lack of BRCA-2 promoter hypermethylation in sporadic epithelial ovarian tumors.
Cancer 2001;92(4):787-95.
2001: Pericay C; Díez O; Campos B; Balmaña J; Domènech M; Lerma E; Baena M; Maria Sabaté J; Gómez A; José López J; Baiget M; Alonso C
[Clinical and pathological characteristics and clinical course of patients with breast cancer and BRCA1/BRCA2 mutations]
Medicina clínica 2001;117(5):161-6.
2001: Marcos I; Ruiz A; Borrego S; Ayuso C; Baiget M; Antiñolo G
[Molecular analysis of the RPE65 gene in 72 Spanish families with autosomal recessive retinitis pigmentosa]
Medicina clínica 2001;117(4):121-3.
2001: Vega A; Campos B; Bressac-De-Paillerets B; Bond P M; Janin N; Douglas F S; Domènech M; Baena M; Pericay C; Alonso C; Carracedo A; Baiget M; Diez O
The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript.
Human mutation 2001;17(6):520-1.
2001: Martinez-Gimeno M; Maseras M; Baiget M; Beneito M; Antiñolo G; Ayuso C; Carballo M
Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa.
Human mutation 2001;17(6):520.
2001: Campos B; Díez O; Cortés J; Domènech M; Pericay C; Alonso C; Baiget M
Conditions for single-strand conformation polymorphism (SSCP) analysis of BRCA1 gene using an automated electrophoresis unit.
Clinical chemistry and laboratory medicine : CCLM / FESCC 2001;39(5):401-4.
2001: Nomdedéu J F; Badell I; Estivill C; Carnicer M J; Sierra J; Baiget M
TEL rearrangements in acute lymphoblastic leukemia: association with p16 deletions in relapsed cases.
Haematologica 2001;86(5):547-8.
2001: Cuscó I; Barceló M J; del Rio E; Martín Y; Hernández-Chico C; Bussaglia E; Baiget M; Tizzano E F
Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases.
Human genetics 2001;108(3):222-9.
2001: Bernal S; Calaf M; Adan A; Solans T; Valverde D; Ayuso C; Baiget M
Evaluation of RLBP1 in 50 autosomal recessive retinitis pigmentosa and 4 retinitis punctata albescens Spanish families.
Ophthalmic genetics 2001;22(1):19-25.
2001: Pericay C; Brunet J; Díez O; Sanz J; Cortès J; Baiget M; Alonso C
Clinical and pathological findings of BRCA1/2 associated breast cancer.
Breast (Edinburgh, Scotland) 2001;10(1):46-8.
2001: Martorell L; Monckton D G; Sanchez A; Lopez De Munain A; Baiget M
Frequency and stability of the myotonic dystrophy type 1 premutation.
Neurology 2001;56(3):328-35.
2001: Illa I; Serrano-Munuera C; Gallardo E; Lasa A; Rojas-García R; Palmer J; Gallano P; Baiget M; Matsuda C; Brown R H
Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype.
Annals of neurology 2001;49(1):130-4.
2000: Remacha A F; Barceló M J; Sardà M P; Blesa I; Altés A; Baiget M
The S65C mutation in Spain. Implications for iron overload screening.
Haematologica 2000;85(12):1324-5.
2000: Tizzano E; Baiget M
[Molecular basis of spinal muscular atrophy: th SMN gene]
Neurología (Barcelona, Spain) 2000;15(9):393-400.
2000: Nomdedéu J F; Badell I; Estivill C; del Río E; Sierra J; Baiget M
[Mutational analysis of p53 in T-cell lymphoblastic leukemia]
Medicina clínica 2000;115(15):573-5.
2000: Corominas H; Domènech M; González-Juan D; González-Suárez B; Díaz C; Pujol J; Vázquez G; Baiget M
[Aplasia after azathioprine administration: role of the thiopurine methyltransferase genetic polymorphism]
Medicina clínica 2000;115(8):299-301.
2000: Corominas H; Domènech M; González D; Diaz C; Roca M; García-González M A; Peña S; Baiget M
Allelic variants of the thiopurine S-methyltransferase deficiency in patients with ulcerative colitis and in healthy controls.
The American journal of gastroenterology 2000;95(9):2313-7.
2000: Remacha A F; Carrasco M; Sardà M P; Barceló M J; Blesa I; Baiget M
Screening for iron overload and HFE mutations in a university hospital.
Haematologica 2000;85(8):873-4.
2000: Díez O; Campos B; Baiget M
[Molecular diagnosis of hereditary cancer]
Medicina clínica 2000;115(5):190-7.
2000: Beneyto M M; Cuevas J M; Millán J M; Espinós C; Mateu E; González-Cabo P; Baiget M; Doménech M; Bernal S; Ayuso C; García-Sandoval B; Trujillo M J; Borrego S; Antiñolo G; Carballo M; Nájera C
Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).
Ophthalmic genetics 2000;21(2):123-8.
2000: Martorell L; Monckton D G; Gamez J; Baiget M
Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1.
European journal of human genetics : EJHG 2000;8(6):423-30.
2000: Díez O; Cortés J; Domènech M; Pericay C; Brunet J; Alonso C; Baiget M
BRCA2 germ-line mutations in Spanish male breast cancer patients.
Annals of oncology : official journal of the European Society for Medical Oncology / ESMO 2000;11(1):81-4.
1999: Díez O; Cortés J; Domènech M; Brunet J; Del Río E; Pericay C; Sanz J; Alonso C; Baiget M
BRCA1 mutation analysis in 83 Spanish breast and breast/ovarian cancer families.
International journal of cancer. Journal international du cancer 1999;83(4):465-9.
1999: de Diego C; Gámez J; Plassart-Schiess E; Lasa A; Del Río E; Cervera C; Baiget M; Gallano P; Fontaine B
Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families.
Journal of neurology 1999;246(9):825-9.
1999: Miano M G; Testa F; Strazzullo M; Trujillo M; De Bernardo C; Grammatico B; Simonelli F; Mangino M; Torrente I; Ruberto G; Beneyto M; Antinolo G; Rinaldi E; Danesino C; Ventruto V; D'Urso M; Ayuso C; Baiget M; Ciccodicola A
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.
European journal of human genetics : EJHG 1999;7(6):687-94.
1999: Hernández F; López O; Estivill C; Baiget M; Pujol R M; Bordes R; Nomdedéu J F
NPM/ALK rearrangements in indolent cutaneous lesions.
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K 1999;13(8):1291-2.
1999: Díez O; Domènech M; Cortés J; Del Río E; Brunet J; Alonso M C; Baiget M
Two contiguously located germline BRCA1 mutations in a Spanish early-onset breast cancer family.
Cancer letters 1999;142(1):71-3.
1999: Díez O; Osorio A; Robledo M; Barroso A; Domènech M; Cortés J; Albertos J; Sanz J; Brunet J; SanRomán J M; Alonso M C; Baiget M; Benítez J
Prevalence of BRCA1 and BRCA2 Jewish mutations in Spanish breast cancer patients.
British journal of cancer 1999;79(7-8):1302-3.
1999: Díez O; del Río E; Domènech M; Sanz J; Cortés J; Brunet J; Alonso M del C; Baiget M
[The identification of a new mutation in the BRCA2 gene by protein truncation analysis in a Spanish family with hereditary breast cancer]
Medicina clínica 1999;112(5):179-81.
1999: López de Munain A; Urtasun A; Poza J J; Ruiz J; Sáenz A; Cobo A M; Lasa A; Gallano P; Baiget M; Martí-Massó J F
[Alterations in functional proteins. Calpaine-3 deficiency]
Revista de neurologia 1999;28(2):158-64.
1999: Díez Gibert O; del Río E; Domènech M; Hernández E M; Sanz J; Brunet J; Alonso M C; Baiget M
[Mutations in the BRCA1 gene in young Spanish women with breast cancer]
Medicina clínica 1999;112(2):51-4.
1998: Díez O; Doménech M; Alonso M C; Brunet J; Sanz J; Cortés J; del Río E; Baiget M
Identification of the 185delAG BRCA1 mutation in a Spanish Gypsy population.
Human genetics 1998;103(6):707-8.
1998: Valverde D; Vázquez-Gundín F; del Rio E; Calaf M; Fernández J L; Baiget M
Analysis of the IRBP gene as a cause of RP in 45 ARRP Spanish families. Autosomal recessive retinitis pigmentosa. Interstitial retinol binding protein. Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa.
Ophthalmic genetics 1998;19(4):197-202.
1998: Baiget M; Calaf M; Valverde D; del Río E; Reig C; Carballo M; Calvo M T; González-Duarte R
[Identification of 2 allelic mutations of the gene of the phosphodiesterase beta subunit in a Spanish family with recessive autosomic retinitis pigmentosa]
Medicina clínica 1998;111(11):420-2.
1998: Lasa A; Piccolo F; de Diego C; Jeanpierre M; Colomer J; Rodríguez M J; Urtizberea J A; Baiget M; Kaplan J; Gallano P
Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene.
European journal of human genetics : EJHG 1998;6(4):396-9.
1998: Nomdedéu J F; Baiget M; Gaidano G; Estivill C; Lasa A; Rubiol E; Mateu R; Bordes R; Brunet S; Saglio G; Soler J
p53 mutation in a case of blastic transformation of follicular lymphoma with double bcl-2 rearrangement (MBR and VCR).
Leukemia & lymphoma 1998;29(5-6):595-605.
1998: Espinós C; Nájera C; Millán J M; Ayuso C; Baiget M; Pérez-Garrigues H; Rodrigo O; Vilela C; Beneyto M
Linkage analysis in Usher syndrome type I (USH1) families from Spain.
Journal of medical genetics 1998;35(5):391-8.
1998: Bayés M; Goldaracena B; Martínez-Mir A; Iragui-Madoz M I; Solans T; Chivelet P; Bussaglia E; Ramos-Arroyo M A; Baiget M; Vilageliu L; Balcells S; Gonzàlez-Duarte R; Grinberg D
A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.
Journal of medical genetics 1998;35(2):141-5.
1998: Martorell L; Monckton D G; Gamez J; Johnson K J; Gich I; Lopez de Munain A; Baiget M
Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients.
Human molecular genetics 1998;7(2):307-12.
1998: Osorio A; Robledo M; Albertos J; Díez O; Alonso C; Baiget M; Benítez J
Molecular analysis of the six most recurrent mutations in the BRCA1 gene in 87 Spanish breast/ovarian cancer families.
Cancer letters 1998;123(2):153-8.
1998: Miano M G; Valverde D; Solans T; Grammatico B; Migliaccio C; Cirigliano V; DeBernardo C; Ventruto V; Meitinger T; Wright A; Del Porto G; Baiget M; D'Urso M; Ciccodicola A
Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online.
Human mutation 1998;12(3):212-3.
1997: Nomdedéu J F; Lete I; Baiget M; Lasa A; Estivill C; Rubiol E; Badell I; Pardo N; Cubells J; Mateu R; Brunet S; Bordes R; Soler J
Mutational analysis of p53 in 16 cases of acute lymphoblastic leukemia and Burkitt's lymphoma.
Haematologica 1997;82(5):550-4.
1997: Diez O; Brunet J; Sanz J; del Rio E; Alonso M C; Baiget M
Differences in phenotypic expression of a new BRCA1 mutation in identical twins.
Lancet 1997;350(9079):713.
1997: Martínez-Mir A; Vilela C; Bayés M; Valverde D; Dain L; Beneyto M; Marco M; Baiget M; Grinberg D; Balcells S; Gonzàlez-Duarte R; Vilageliu L
Putative association of a mutant ROM1 allele with retinitis pigmentosa.
Human genetics 1997;99(6):827-30.
1997: Martorell L; Johnson K; Boucher C A; Baiget M
Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development.
Human molecular genetics 1997;6(6):877-80.
1997: Bussaglia E; Tizzano E F; Illa I; Cervera C; Baiget M
Cramps and minimal EMG abnormalities as preclinical manifestations of spinal muscular atrophy patients with homozygous deletions of the SMN gene.
Neurology 1997;48(5):1443-5.
1997: Martínez-Mir A; Bayés M; Vilageliu L; Grinberg D; Ayuso C; del Río T; García-Sandoval B; Bussaglia E; Baiget M; Gonzàlez-Duarte R; Balcells S
A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21.
Genomics 1997;40(1):142-6.
1997: Lasa A; Gallano P; Baiget M
Three novel point mutations in the dystrophin gene in DMD patients.
Human mutation 1997;9(5):473-4.
1996: Bussaglia E; Tizzano E; Baiget M
[The contribution of molecular genetics to the study of spinal muscular atrophy]
Neurología (Barcelona, Spain) 1996;11 Suppl 5():14-9.
1996: Bayés M; Martínez-Mir A; Valverde D; del Río E; Vilageliu L; Grinberg D; Balcells S; Ayuso C; Baiget M; Gonzàlez-Duarte R
Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease.
Clinical genetics 1996;50(5):380-7.
1996: Gennarelli M; Novelli G; Andreasi Bassi F; Martorell L; Cornet M; Menegazzo E; Mostacciuolo M L; Martinez J M; Angelini C; Pizzuti A; Baiget M; Dallapiccola B
Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats.
American journal of medical genetics 1996;65(4):342-7.
1996: Nomdedéu J; Lasa A; Seminago R; Mateu R; Rubiol E; Baiget M; Soler J
Mutational analysis of RAG-1 in lymphoid malignancies.
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K 1996;10(11):1715-8.
1996: Martorell L; Illa I; Rosell J; Benitez J; Sedano M J; Baiget M
Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated cases.
Journal of medical genetics 1996;33(9):783-5.
1996: Tizzano E F; Altisent C; Domènech M; Cornet M; Tusell J; Baiget M
Inhibitor development in haemophilia A patients with inversion of the intron 22 of the factor VIII gene.
Thrombosis and haemostasis 1996;76(1):125-6.
1996: Petroni D; Pastore C; Lasa A; Soler J; Baiget M; Nomdedéu J
Rapid sequencing protocol using microconcentrators.
Trends in genetics : TIG 1996;12(5):167-8.
1996: Reig C; Antich J; Gean E; Dante Heredia C; Valverde D; Baiget M; Carballo M
[Identification of Arg-135-Leu mutation in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa]
Medicina clínica 1996;106(6):219-21.
1996: Valverde D; Solans T; Grinberg D; Balcells S; Vilageliu L; Bayés M; Chivelet P; Besmond C; Goossens M; González-Duarte R; Baiget M
A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family.
Human genetics 1996;97(1):35-8.
1996: Valverde D; Baiget M; Seminago R; del Rio E; García-Sandoval B; del Rio T; Bayés M; Balcells S; Martínez A; Grinberg D; Ayuso C
Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa.
Human mutation 1996;8(4):393-4.
1996: López de Munain A; Cobo A M; Sáenz A; Blanco A; Poza J J; Martorell L; Martí-Massó J F; Baiget M
Frequency of intergenerational contractions of the CTG repeats in myotonic dystrophy.
Genetic epidemiology 1996;13(5):483-7.
1996: Nomdedéu J F; Lasa A; Seminago R; Rubiol E; Baiget M; Soler J
Two new variants of RAG-1 protein predicted by SSCP.
Human mutation 1996;8(2):191-2.
1996: Capon F; Levato C; Bussaglia E; Lo Cicero S; Tizzano E F; Baiget M; Silani V; Pizzuti A; Novelli G; Dallapiccola B
Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus.
Human mutation 1996;7(3):198-201.
1995: Gallano P; Lasa A; Baiget M
[Dystrophinopathies]
Neurología (Barcelona, Spain) 1995;10 Suppl 1():8-11.
1995: Baiget M
[Basic concepts in molecular genetics]
Neurología (Barcelona, Spain) 1995;10 Suppl 1():2-7.
1995: Martino R; Brunet S; García A; Sureda A; Soler J; Martínez C; Domingo-Albós A; Baiget M
Various patterns of chimerism after allogeneic bone marrow transplantation for advanced chronic lymphocytic leukemia.
Bone marrow transplantation 1995;16(6):783-6.
1995: Bussaglia E; Clermont O; Tizzano E; Lefebvre S; Bürglen L; Cruaud C; Urtizberea J A; Colomer J; Munnich A; Baiget M
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients.
Nature genetics 1995;11(3):335-7.
1995: Lasa A; Gallano P; Colomer J; Baiget M
A novel insertional mutation of a single base on exon 12 of the dystrophin gene.
Clinical genetics 1995;48(3):128-30.
1995: López de Munain A; Cobo A M; Poza J J; Navarrete D; Martorell L; Palau F; Emparanza J I; Baiget M
Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy.
Journal of medical genetics 1995;32(9):689-91.
1995: Antonarakis S E; Rossiter J P; Young M; Horst J; de Moerloose P; Sommer S S; Ketterling R P; Kazazian H H; Négrier C; Vinciguerra C; Gitschier J; Goossens M; Girodon E; Ghanem N; Plassa F; Lavergne J M; Vidaud M; Costa J M; Laurian Y; Lin S W; Lin S R; Shen M C; Lillicrap D; Taylor S A; Windsor S; Valleix S V; Nafa K; Sultan Y; Delpech M; Vnencak-Jones C L; Phillips J A; Ljung R C; Koumbarelis E; Gialeraki A; Mandalaki T; Jenkins P V; Collins P W; Pasi K J; Goodeve A; Peake I; Preston F E; Schwartz M; Scheibel E; Ingerslev J; Cooper D N; Millar D S; Kakkar V V; Giannelli F; Naylor J A; Tizzano E F; Baiget M; Domenech M; Altisent C; Tusell J; Beneyto M; Lorenzo J I; Gaucher C; Mazurier C; Peerlinck K; Matthijs G; Cassiman J J; Vermylen J; Mori P G; Acquila M; Caprino D; Inaba H
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.
Blood 1995;86(6):2206-12.
1995: Martorell L; Martinez J M; Carey N; Johnson K; Baiget M
Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period.
Journal of medical genetics 1995;32(8):593-6.
1995: Bayés M; Valverde D; Balcells S; Grinberg D; Vilageliu L; Benítez J; Ayuso C; Beneyto M; Baiget M; Gonzàlez-Duarte R
Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families.
Human genetics 1995;96(1):89-94.
1995: García A; Román J; Brunet S; Andrés P; Baiget M; Torres A
[Minimal residual disease in chronic myeloid leukemia in patients with long survival after allogeneic bone marrow transplantation]
Medicina clínica 1995;104(11):401-6.
1995: Cobo A M; Poza J J; Martorell L; López de Munain A; Emparanza J I; Baiget M
Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy.
Journal of medical genetics 1995;32(2):105-8.
1995: Nomdedéu J F; Lasa A; Seminago R; Baiget M; Soler J
Polymorphism in the RAG-1 gene identified by SSCP.
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K 1995;9(1):229-30.
1995: Tizzano E F; Domènech M; Baiget M
Inversion of intron 22 in isolated cases of severe hemophilia A.
Thrombosis and haemostasis 1995;73(1):6-9.
1994: Gennarelli M; Dallapiccola B; Baiget M; Martorell L; Novelli G
Meiotic drive at the myotonic dystrophy locus.
Journal of medical genetics 1994;31(12):980.
1994: Martino R; Badell I; Brunet S; Sureda A; Nomdedéu J; Altés A; Ayats R; Cubells J; Baiget M; Domingo-Albós A
Second bone marrow transplantation for leukemia in untreated relapse.
Bone marrow transplantation 1994;14(4):589-93.
1994: López de Munain A; Cobo A; Martí Massó J F; Baiget M
[DNA instability and neurological diseases: a new model for genetic disease]
Neurología (Barcelona, Spain) 1994;9(8):342-51.
1994: Valverde D; Bayés M; Martínez I; Grinberg D; Vilageliu L; Balcells S; Gonzàlez-Duarte R; Baiget M
Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172.
Human genetics 1994;94(2):193-4.
1994: Colomer J; Gallano P; Nicholson L V; Tizzano E; Baiget M
Severe mental retardation in a young boy with an in-frame deletion in the dystrophin gene.
European journal of pediatrics 1994;153(7):492-4.
1994: Tizzano E F; Domènech M; Altisent C; Tusell J; Baiget M
Inversions in the factor VIII gene in Spanish hemophilia A patients.
Blood 1994;83(12):3826.
1994: Tizzano E F; Altisent C; Tusell J; Domènech M; Baiget M
Intron 22 inversions and haemophilia.
Lancet 1994;343(8900):792.
1994: López de Munain A; Blanco A; Emparanza J I; Martí Massó J F; Cobo A; Basauri B; Martorell L; Baiget M; Martínez Lage J M
Anticipation in myotonic dystrophy: a parental-sex-related phenomenon.
Neuroepidemiology 1994;13(1-2):75-8.
1993: López de Munain A; Blanco A; Emparanza J I; Poza J J; Martí Massó J F; Cobo A; Martorell L; Baiget M; Martínez Lage J M
Prevalence of myotonic dystrophy in Guipúzcoa (Basque Country, Spain).
Neurology 1993;43(8):1573-6.
1993: Cobo A; Martinez J M; Martorell L; Baiget M; Johnson K
Molecular diagnosis of homozygous myotonic dystrophy in two asymptomatic sisters.
Human molecular genetics 1993;2(6):711-5.
1993: López de Munain A; Emparanza J I; Blanco A; Cobo A; Poza J J; Basauri B; Baiget M; Martí Massó J F
[Clinical manifestations of myotonic dystrophy: epidemiologic survey]
Medicina clínica 1993;101(5):161-4.
1993: Cobo A M; Baiget M; López de Munain A; Poza J J; Emparanza J I; Johnson K
Sex-related difference in intergenerational expansion of myotonic dystrophy gene.
Lancet 1993;341(8853):1159-60.
1993: Cobo A M; Martorell L; López de Munain A; Basauri B; Martínez J M; Johnson K; Baiget M
[Direct genotypic analysis of myotonic dystrophy: detection of an unstable DNA fragment in carriers]
Medicina clínica 1993;100(10):361-4.
1992: Melchionda S; Cobo A; Gennarelli M; Martorell L; Fattorini C; Baiget M; Lopez de Munain A; Johnson K; Shelbourne P; Novelli G
Expansion of the myotonic dystrophy gene in Italian and Spanish patients.
Journal of medical genetics 1992;29(11):789-90.
1992: Gallano P; Girodon E; Ghanem N; Font L L; del Rio E; Martin J; Goossens M; Baiget M
High prevalence of the beta-thalassaemia nonsense 37 mutation in Catalonians from the Ebro delta.
British journal of haematology 1992;81(1):126-7.
1992: Cobo A; Grinberg D; Balcells S; Vilageliu L; Gonzàlez-Duarte R; Baiget M
Linkage disequilibrium detected between myotonic dystrophy and the anonymous marker D19S63 in the Spanish population.
Human genetics 1992;89(3):287-91.
1991: Gallano M P; Baiget M; Palau F
[Molecular genetics in neurology (III). Contribution to the knowledge of molecular pathology]
Neurología (Barcelona, Spain) 1991;6(9):334-43.
1991: Cobo A M; Martínez J M; López de Munain A; Baiget M
[Application of the polymerase chain reaction technique (PCR) to the molecular diagnosis of myotonic dystrophy]
Neurología (Barcelona, Spain) 1991;6(9):317-21.
1991: Palau F; Baiget M; Gallano P
[Molecular genetics in neurology (II). Analysis of the human genome]
Neurología (Barcelona, Spain) 1991;6(8):302-6.
1991: Baiget M; Gallano P; Palau F
[Molecular genetics in neurology (I). Diagnostic strategies in the genotypic study of monogenic hereditary pathology]
Neurología (Barcelona, Spain) 1991;6(7):263-5.
1991: Baiget M; Tizzano E; Volpini V; del Rio E; Pérez-Vidal T; Gallano P
DMD carrier detection in a female with mosaic Turner's syndrome.
Journal of medical genetics 1991;28(3):209-10.
1990: Cobo A M; Martínez J M; Parra J; Pérez M M; Pradas J; Baiget M
[Prenatal diagnosis of myotonic dystrophy: the first experience in Spain]
Medicina clínica 1990;94(14):538-40.
1990: Cobo A M; Martínez J M; Pradas J; Baiget M
[Genetic analysis of Spanish families with myotonic dystrophy]
Neurología (Barcelona, Spain) 1990;5(3):86-91.
1990: Baiget M
[Thalassemia 1990]
Medicina clínica 1990;94(3):96-7.
1989: Baiget M; del Río E; Gallano P
[Use of dystrophin c-DNA for the direct diagnosis of Duchenne muscular dystrophy in female carriers]
Neurología (Barcelona, Spain) 1989;4(8):268-76.
1988: Soler J; Baiget M; Rubiol E; Guañabens C; Nunes V; Estivill X; Bosch M A
[Genotype study of T receptors in the diagnosis and classification of leukemias and lymphomas]
Medicina clínica 1988;91(4):135-8.
1987: Baiget M; Nunes V; del Río E; Ramos C; Ayuso C; Benítez J; Díaz Recasens J
[Prenatal diagnosis of hemophilia A by DNA analysis. First experience in Spain]
Medicina clínica 1987;88(19):770-2.

Sign-in to see more

Sign-in free and Explore the Exciting World of BiomedExperts:

NetworkView

Montserrat Baiget

Research Profile (preview)

Geographic Areas

Concepts & Ideas

Physiology

Procedures

Phenomena

Disorders

Genes & Molecular Sequences

Chemicals & Drugs

Network (preview)

Publications

Sign in free and see...

Visualized networks:

GeoTargeted Searches:

Research Profiles:

Geonetwork of Montserrat Baiget (preview)

All Publications