Publicaciones
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Tizzano E, Soria JM, Coll I, Guzmán B, Cornet M, Altisent C, Martorell M, Domenech M, del Río E, Fontcuberta J and Baiget M.
The prothrombin 20210A allele influences clinical manifestations of hemophilia A in patients with intron 22 inversion and without inhibitors.
HAEMATOLOGICA . 87(3): 279-285. Nº de citas: 47
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Tizzano E, Cuscó I, Barceló MJ, Parra J and Baiget M.
Should gamete donors be tested for spinal muscular atrophy?
FERTILITY AND STERILITY . 77(2): 409-411. Nº de citas: 12
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Cuscó I, Barceló MJ, del Rio E, Martín Y, Hernández-Chico C, Bussaglia E, Baiget M and Tizzano E.
Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases.
HUMAN GENETICS . 108(3): 222-229. Nº de citas: 41
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Tizzano E and Baiget M.
Bases moleculares de la atrofia muscular espinal: el gen SMN.
NEUROLOGIA . 15(9): 393-400.
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Montejo JM, Magallón M, Tizzano E and Solera J.
Identification of twenty-one new mutations in the factor IX gene by SSCP analysis.
HUMAN MUTATION . 13(2): 160-165. Nº de citas: 25
[doi:10.1002/(SICI)1098-1004(1999)13:2<160::AID-HUMU9>3.0.CO;2-C]
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Tizzano E, Cabot C and Baiget M.
Cell-specific survival motor neuron gene expression during human development of the central nervous system: implications for the pathogenesis of spinal muscular atrophy.
AMERICAN JOURNAL OF PATHOLOGY . 153(2): 355-361. Nº de citas: 42
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Loureiro González B, Justa Roldán ML, Rite García S, Marco Tello A, Calvo González M, Baiget Bastus M, Tizzano E and López Pisón J.
Importancia del diagnóstico genético en un caso atípico de atrofia muscular espinal tipo I.
Anales espanoles de pediatria . 48(6): 644-646.
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Bussaglia E, Tizzano E, Illa I, Cervera C and Baiget M.
Cramps and minimal EMG abnormalities as preclinical manifestations of spinal muscular atrophy patients with homozygous deletions of the SMN gene.
Neurology . 48(5): 1443-1445. Nº de citas: 10
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Bussaglia E, Tizzano E and Baiget M.
Contribución de la genética molecular al estudio de la atrofia muscular espinal.
NEUROLOGIA . 11 Suppl 5: 14-19.
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Capon F, Levato C, Bussaglia E, Lo Cicero S, Tizzano E, Baiget M, Silani V, Pizzuti A, Novelli G and Dallapiccola B.
Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus.
HUMAN MUTATION . 7(3): 198-201. Nº de citas: 6
[doi:10.1002/(SICI)1098-1004(1996)7:3<198::AID-HUMU3>3.0.CO;2-7]