Fernández RM - 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: fernandez rm. Genet Med. 2006 Nov;8(11):704-10. doi: 10.1097/01.gim.0000245632.06064.f1. Genet Med. 2006. PMID: 17108762 Free article.

2

Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population.

Ruiz A, Antiñolo G, Fernández RM, Eng C, Marcos I, Borrego S. Ruiz A, et al. Among authors: fernandez rm. Clin Endocrinol (Oxf). 2001 Sep;55(3):399-402. doi: 10.1046/j.1365-2265.2001.01328.x. Clin Endocrinol (Oxf). 2001. PMID: 11589684

3

A novel germline point mutation, c.2304 G-->T, in codon 768 of the RET proto-oncogene in a patient with medullary thyroid carcinoma.

Antiñolo G, Marcos I, Fernández RM, Romero M, Borrego S. Antiñolo G, et al. Among authors: fernandez rm. Am J Med Genet. 2002 Jun 1;110(1):85-7. doi: 10.1002/ajmg.10399. Am J Med Genet. 2002. PMID: 12116277 No abstract available.

4

A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.

Borrego S, Wright FA, Fernández RM, Williams N, López-Alonso M, Davuluri R, Antiñolo G, Eng C. Borrego S, et al. Among authors: fernandez rm. Am J Hum Genet. 2003 Jan;72(1):88-100. doi: 10.1086/345466. Epub 2002 Dec 9. Am J Hum Genet. 2003. PMID: 12474140 Free PMC article.

5

Evaluation of germline sequence variants of GFRA1, GFRA2, and GFRA3 genes in a cohort of Spanish patients with sporadic medullary thyroid cancer.

Borrego S, Fernández RM, Dziema H, Japón MA, Marcos I, Eng C, Antiñolo G. Borrego S, et al. Among authors: fernandez rm. Thyroid. 2002 Nov;12(11):1017-22. doi: 10.1089/105072502320908367. Thyroid. 2002. PMID: 12490080

6

Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease.

Borrego S, Fernández RM, Dziema H, Niess A, López-Alonso M, Antiñolo G, Eng C. Borrego S, et al. Among authors: fernandez rm. J Med Genet. 2003 Mar;40(3):e18. doi: 10.1136/jmg.40.3.e18. J Med Genet. 2003. PMID: 12624147 Free PMC article. No abstract available.

7

Fluorescence resonance energy transfer analysis of the RANTES polymorphisms -403G --> A and -28G --> C: evaluation of both variants as susceptibility factors to HIV type 1 infection in the Spanish population.

Fernández RM, Borrego S, Marcos I, Rubio A, Lissen E, Antiñolo G. Fernández RM, et al. AIDS Res Hum Retroviruses. 2003 May;19(5):349-52. doi: 10.1089/088922203765551692. AIDS Res Hum Retroviruses. 2003. PMID: 12803993

8

Evaluation of germline sequence variants within the promoter region of RANTES gene in a cohort of women with endometriosis from Spain.

Antiñolo G, Fernández RM, Noval JA, García-Lozano JC, Borrego S, Marcos I, Moliní JL. Antiñolo G, et al. Among authors: fernandez rm. Mol Hum Reprod. 2003 Aug;9(8):491-5. doi: 10.1093/molehr/gag057. Mol Hum Reprod. 2003. PMID: 12837926

9

The RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes.

Fernández RM, Antiñolo G, Eng C, Borrego S. Fernández RM, et al. Hum Mutat. 2003 Nov;22(5):412-5. doi: 10.1002/humu.10273. Hum Mutat. 2003. PMID: 14517954 No abstract available.

10

Analysis of the involvement of CCR5-Delta32 and CCR2-V64I variants in the development of endometriosis.

Antiñolo G, Fernández RM, Noval JA, Moliní JL, Borrego S. Antiñolo G, et al. Among authors: fernandez rm. Mol Hum Reprod. 2004 Mar;10(3):155-7. doi: 10.1093/molehr/gah026. Epub 2004 Jan 29. Mol Hum Reprod. 2004. PMID: 14981141

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