M. Cornet

发表

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.

M. Baiget, E. Tizzano, A. Venceslá, 2008, Blood.

Inversion of intron 1 of the factor VIII gene for direct molecular diagnosis of hemophilia A.

M. Baiget, E. Tizzano, M. Cornet, 2003, Haematologica.

suggests new intermolecular binding sites hemophilia A patients: structural analysis of 20 missense mutations Identification of 31 novel mutations in the F8 gene in Spanish

M. Baiget, E. Tizzano, A. Venceslá, 2013 .

Molecular Detection of Peripheral Blood Breast Cancer mRNA Transcripts as a Surrogate Biomarker for Circulating Tumor Cells

M. Baiget, A. Lasa, A. Barnadas, 2013, PloS one.

The prothrombin 20210A allele influences clinical manifestations of hemophilia A in patients with intron 22 inversion and without inhibitors.

M. Baiget, E. Tizzano, J. Fontcuberta, 2002, Haematologica.

Modifier genes in haemophilia: their expansion in the human genome

M. Baiget, E. Tizzano, M. Cornet, 2002, Haemophilia : the official journal of the World Federation of Hemophilia.

Inhibitor Development in Haemophilia A Patients with Inversion of the Intron 22 of the Factor VIII Gene

M. Baiget, E. Tizzano, C. Altisent, 1996, Thrombosis and Haemostasis.

First report of two independent point factorVIII mutations in a family with haemophilia a: a word of caution for carrier diagnosis.

M. Baiget, E. Tizzano, R. Pérez Garrido, 2005, Thrombosis and Haemostasis.

Rapid identification of female haemophilia A carriers with deletions in the factor VIII gene by quantitative Real-Time PCR analysis

M. Barceló, M. Baiget, E. Tizzano, 2005, Thrombosis and Haemostasis.

Application of intron 9 and intron 25 dinucleotide repeats of the factor VIII gene for carrier diagnosis in haemophilia A

M. Baiget, E. Tizzano, A. Venceslá, 2008, Haemophilia : the official journal of the World Federation of Hemophilia.

Utility of a (GT)n dinucleotide repeat in intron 1 of the factor 8 gene for haemophilia A carrier diagnosis

M. Baiget, E. Tizzano, A. Venceslá, 2005, Haemophilia : the official journal of the World Federation of Hemophilia.

Exclusion of mosaicism in Spanish haemophilia A families with inversion of intron 22

M. Baiget, E. Tizzano, M. Cornet, 2003, Haemophilia : the official journal of the World Federation of Hemophilia.

About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants

J. Benítez, A. Osorio, T. Ramón Y Cajal, 2014, International journal of cancer.

Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats.

C. Angelini, B. Dallapiccola, A. Pizzuti, 1996, American journal of medical genetics.

Copy number variations are not modifiers of phenotypic expression in a pair of identical twins carrying a BRCA1 mutation

J. Suela, J. Cigudosa, C. Alonso, 2010, Breast Cancer Research and Treatment.

Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated cases

J. Rosell, M. Baiget, I. Illa, 1996, Neuromuscular Disorders.

Ionizing radiation or mitomycin-induced micronuclei in lymphocytes of BRCA1 or BRCA2 mutation carriers

P. Carrasco, C. Alonso, T. Ramón Y Cajal, 2011, Breast Cancer Research and Treatment.