Antiñolo G - Search Results

1

A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes.

Ruiz-Ferrer M, Fernández RM, Antiñolo G, López-Alonso M, Eng C, Borrego S. Ruiz-Ferrer M, et al. Among authors: antinolo g. Genet Med. 2006 Nov;8(11):704-10. doi: 10.1097/01.gim.0000245632.06064.f1. Genet Med. 2006. PMID: 17108762 Free article.

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. 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. Among authors: antinolo g. 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. 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. 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 (8;12) in a patient with agnogenic myeloid metaplasia.

Borrego S, Antiñolo G, Martín-Noya A, Parody R. Borrego S, et al. Among authors: antinolo g. Cancer Genet Cytogenet. 1993 Dec;71(2):183-4. doi: 10.1016/0165-4608(93)90030-p. Cancer Genet Cytogenet. 1993. PMID: 8281526 No abstract available.

7

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. Among authors: antinolo g. 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.

8

Reverse mutation in fragile X syndrome.

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

9

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

Borrego S, Antiñolo G, Prieto J. Borrego S, et al. Among authors: antinolo g. 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.

10

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: antinolo g. Hum Mutat. 1996;7(2):180. doi: 10.1002/humu.1380070202. Hum Mutat. 1996. PMID: 8829640 No abstract available.

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