Antiñolo G - Search Results

1

Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

Tang CS, Gui H, Kapoor A, Kim JH, Luzón-Toro B, Pelet A, Burzynski G, Lantieri F, So MT, Berrios C, Shin HD, Fernández RM, Le TL, Verheij JB, Matera I, Cherny SS, Nandakumar P, Cheong HS, Antiñolo G, Amiel J, Seo JM, Kim DY, Oh JT, Lyonnet S, Borrego S, Ceccherini I, Hofstra RM, Chakravarti A, Kim HY, Sham PC, Tam PK, Garcia-Barceló MM. Tang CS, et al. Among authors: antinolo g. Hum Mol Genet. 2016 Dec 1;25(23):5265-5275. doi: 10.1093/hmg/ddw333. Hum Mol Genet. 2016. PMID: 27702942 Free PMC 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

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.

7

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.

8

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.

9

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. Among authors: antinolo g. Hum Mutat. 1996;7(2):180-1. doi: 10.1002/humu.1380070202. Hum Mutat. 1996. PMID: 8829641 No abstract available.

10

Genotype-phenotype relationship in 12 patients carrying cystic fibrosis mutation R334W.

Antiñolo G, Borrego S, Gili M, Dapena J, Alfageme I, Reina F. Antiñolo G, et al. J Med Genet. 1997 Feb;34(2):89-91. doi: 10.1136/jmg.34.2.89. J Med Genet. 1997. PMID: 9039981 Free PMC article.

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