Borrego S - Search Results

1

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

Alías L, Bernal S, Fuentes-Prior P, Barceló MJ, Also E, Martínez-Hernández R, Rodríguez-Alvarez FJ, Martín Y, Aller E, Grau E, Peciña A, Antiñolo G, Galán E, Rosa AL, Fernández-Burriel M, Borrego S, Millán JM, Hernández-Chico C, Baiget M, Tizzano EF. Alías L, et al. Among authors: borrego s. Hum Genet. 2009 Feb;125(1):29-39. doi: 10.1007/s00439-008-0598-1. Epub 2008 Dec 3. Hum Genet. 2009. PMID: 19050931

2

Familial spastic paraplegia with neuropathy and poikiloderma. A new syndrome?

Antiñolo G, Nieto M, Borrego S, Sierra J, Rufo M, Siljeström ML. Antiñolo G, et al. Among authors: borrego s. Clin Genet. 1992 Jun;41(6):281-4. doi: 10.1111/j.1399-0004.1992.tb03397.x. Clin Genet. 1992. PMID: 1623621

3

Molecular and clinical analyses of cystic fibrosis in the south of Spain.

Borrego S, Casals T, Dapena J, Fernández E, Giménez J, Cabeza JC, Sánchez J, Antiñolo G. Borrego S, et al. Clin Genet. 1994 Oct;46(4):287-90. doi: 10.1111/j.1399-0004.1994.tb04161.x. Clin Genet. 1994. PMID: 7530610

4

Megalocornea-mental retardation syndrome: an additional case.

Antiñolo G, Rufo M, Borrego S, Morales C. Antiñolo G, et al. Among authors: borrego s. Am J Med Genet. 1994 Aug 15;52(2):196-7. doi: 10.1002/ajmg.1320520214. Am J Med Genet. 1994. PMID: 7802008 Review.

5

Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa.

Antiñolo G, Sánchez B, Borrego S, Rueda T, Chaparro P, Cabeza JC. Antiñolo G, et al. Among authors: borrego s. Hum Mol Genet. 1994 Aug;3(8):1421. doi: 10.1093/hmg/3.8.1421. Hum Mol Genet. 1994. PMID: 7987326 No abstract available.

6

Translocation (14;18) in a patient with common acute lymphoblastic leukemia (FAB l2).

Borrego S, Antiñolo G, Parody R, Jiménez F. Borrego S, et al. Cancer Genet Cytogenet. 1993 Feb;65(2):177-8. doi: 10.1016/0165-4608(93)90232-b. Cancer Genet Cytogenet. 1993. PMID: 8453607 No abstract available.

7

Reverse mutation in fragile X syndrome.

Antiñolo G, Borrego S, Cabeza JC, Sánchez R, Sánchez J, Sánchez B. Antiñolo G, et al. Among authors: borrego s. Am J Hum Genet. 1996 Jan;58(1):237-9. Am J Hum Genet. 1996. PMID: 8554061 Free PMC article. No abstract available.

8

Two additional ANLL cases with chromosome 3 rearrangements involving bands q21 and q26.

Borrego S, Antiñolo G, Prieto J. Borrego S, et al. Cancer Genet Cytogenet. 1996 May;88(1):90-1. doi: 10.1016/0165-4608(95)00310-x. Cancer Genet Cytogenet. 1996. PMID: 8630989 No abstract available.

9

A novel null mutation in the rhodopsin gene causing late onset autosomal dominant retinitis pigmentosa.

Sánchez B, Borrego S, Chaparro P, Rueda T, López F, Antiñolo G. Sánchez B, et al. Among authors: borrego s. Hum Mutat. 1996;7(2):180. doi: 10.1002/humu.1380070202. Hum Mutat. 1996. PMID: 8829640 No abstract available.

10

Missense mutation A346P in the rhodopsin gene in one family with autosomal dominant retinitis pigmentosa.

Borrego S, Sánchez B, Ruiz A, Antiñolo G. Borrego S, et al. Hum Mutat. 1996;7(2):180-1. doi: 10.1002/humu.1380070202. Hum Mutat. 1996. PMID: 8829641 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

208 results

Search Page

Filters