Tizzano EF - Search Results

1

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.

Cuscó I, López E, Soler-Botija C, Jesús Barceló M, Baiget M, Tizzano EF. Cuscó I, et al. Among authors: tizzano ef. Hum Mutat. 2003 Aug;22(2):136-43. doi: 10.1002/humu.10245. Hum Mutat. 2003. PMID: 12872254

2

High proportion of twins in carriers of fragile X syndrome.

Tizzano EF, Baiget M. Tizzano EF, et al. J Med Genet. 1992 Aug;29(8):599. doi: 10.1136/jmg.29.8.599-a. J Med Genet. 1992. PMID: 1518031 Free PMC article. No abstract available.

3

DMD carrier detection in a female with mosaic Turner's syndrome.

Baiget M, Tizzano E, Volpini V, del Rio E, Pérez-Vidal T, Gallano P. Baiget M, et al. J Med Genet. 1991 Mar;28(3):209-10. doi: 10.1136/jmg.28.3.209. J Med Genet. 1991. PMID: 2051460 Free PMC article. No abstract available.

4

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

Bussaglia E, Clermont O, Tizzano E, Lefebvre S, Bürglen L, Cruaud C, Urtizberea JA, Colomer J, Munnich A, Baiget M, et al. Bussaglia E, et al. Nat Genet. 1995 Nov;11(3):335-7. doi: 10.1038/ng1195-335. Nat Genet. 1995. PMID: 7581461

5

Inversion of intron 22 in isolated cases of severe hemophilia A.

Tizzano EF, Domènech M, Baiget M. Tizzano EF, et al. Thromb Haemost. 1995 Jan;73(1):6-9. Thromb Haemost. 1995. PMID: 7740498

6

Severe mental retardation in a young boy with an in-frame deletion in the dystrophin gene.

Colomer J, Gallano P, Nicholson LV, Tizzano E, Baiget M. Colomer J, et al. Eur J Pediatr. 1994 Jul;153(7):492-4. doi: 10.1007/BF01957003. Eur J Pediatr. 1994. PMID: 7957365

7

Inversions in the factor VIII gene in Spanish hemophilia A patients.

Tizzano EF, Domènech M, Altisent C, Tusell J, Baiget M. Tizzano EF, et al. Blood. 1994 Jun 15;83(12):3826. Blood. 1994. PMID: 8204899 Free article. No abstract available.

8

Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus.

Capon F, Levato C, Bussaglia E, Lo Cicero S, Tizzano EF, Baiget M, Silani V, Pizzuti A, Novelli G, Dallapiccola B. Capon F, et al. Among authors: tizzano ef. Hum Mutat. 1996;7(3):198-201. doi: 10.1002/(SICI)1098-1004(1996)7:3<198::AID-HUMU3>3.0.CO;2-7. Hum Mutat. 1996. PMID: 8829652

9

[The contribution of molecular genetics to the study of spinal muscular atrophy].

Bussaglia E, Tizzano E, Baiget M. Bussaglia E, et al. Neurologia. 1996 Dec;11 Suppl 5:14-9. Neurologia. 1996. PMID: 9044570 Review. Spanish.

10

Cramps and minimal EMG abnormalities as preclinical manifestations of spinal muscular atrophy patients with homozygous deletions of the SMN gene.

Bussaglia E, Tizzano EF, Illa I, Cervera C, Baiget M. Bussaglia E, et al. Among authors: tizzano ef. Neurology. 1997 May;48(5):1443-5. doi: 10.1212/wnl.48.5.1443. Neurology. 1997. PMID: 9153488

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