Montserrat Baiget

Overview

Best Publications

• Factor VIII gene inversions in severe hemophilia A: results of an international consortium study

  S. E. Antonarakis;J. P. Rossiter;M. Young;J. Horst

  455
  Citations

• UGT1A1 gene variations and irinotecan treatment in patients with metastatic colorectal cancer

  E Marcuello;A Altés;A Menoyo;E del Rio

  414
  Citations

• Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype.

  Isabel Illa;Carme Serrano‐Munuera;Eduard Gallardo;Adriana Lasa

  331
  Citations

• A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients.

  Elena Bussaglia;Olivier Clermont;Eduardo Tizzano;Suzie Lefebvre

  303
  Citations

• New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1)

  T. Ashizawa;I. Gonzales;N. Ohsawa;R. H. Singer

  295
  Citations

• 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.

  Orland Díez;Ana Osorio;Mercedes Durán;José Ignacio Martinez-Ferrandis

  220
  Citations

• Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

  Laura Alías;Sara Bernal;Pablo Fuentes-Prior;María Jesus Barceló

  192
  Citations

• 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.

  Eugenio Marcuello;Albert Altés;Elisabeth del Rio;Angeles César

  188
  Citations

• Progression of Somatic CTG Repeat Length Heterogeneity in the Blood Cells of Myotonic Dystrophy Patients

  Loreto Martorell;Darren G. Monckton;José Gamez;Keith J. Johnson

  187
  Citations

• Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy

  Ashizawa T;Anvret M;Baiget M;Barceló Jm

  167
  Citations

• Pharmacogenetic prediction of clinical outcome in advanced colorectal cancer patients receiving oxaliplatin/5-fluorouracil as first-line chemotherapy.

  L Paré;E Marcuello;A Altés;E del Río

  151
  Citations

• SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings.

  I Cuscó;M J Barceló;R Rojas-García;I Illa

  146
  Citations

• The Exon 13 Duplication in the BRCA1 Gene Is a Founder Mutation Present in Geographically Diverse Populations

  S. Mazoyer;J. Leary;J. Kirk;E. Fleischmann

  143
  Citations

• Neuronal death is enhanced and begins during foetal development in type I spinal muscular atrophy spinal cord

  Caroline Soler-Botija;Isidre Ferrer;Ignasi Gich;Montserrat Baiget

  141
  Citations

• DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations

  Jonas Juan-Mateu;Lidia Gonzalez-Quereda;Maria Jose Rodriguez;Manel Baena

  140
  Citations

• Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle

  Debra A. Thompson;Andreas R. Janecke;Jessica Lange;Kecia L. Feathers

  136
  Citations

• A genotype-directed phase I-IV dose-finding study of irinotecan in combination with fluorouracil/leucovorin as first-line treatment in advanced colorectal cancer.

  E Marcuello;D Páez;L Paré;J Salazar

  136
  Citations

• Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.

  María Martínez-Gimeno;María José Gamundi;Imma Hernan;Miquel Maseras

  133
  Citations

• The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript.

  Ana Vega;Berta Campos;Brigitte Bressac-de-Paillerets;Patricia M. Bond

  133
  Citations

• Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study

  Anthonie J. van Essen;Stephen Abbs;Montserrat Baiget;Egbert Bakker

  119
  Citations