Dominguez F - Search Results

1

Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system.

Bleicken C, Loidi L, Dhir V, Parajes S, Quinteiro C, Dominguez F, Grötzinger J, Sippell WG, Riepe FG, Arlt W, Krone N. Bleicken C, et al. Among authors: dominguez f. Hum Mutat. 2009 Feb;30(2):E443-50. doi: 10.1002/humu.20926. Hum Mutat. 2009. PMID: 19058224

2

The C494F variant in the CYP11B1 gene is a sequence polymorphism in the Spanish population.

Loidi L, Quinteiro C, Barros F, Domínguez F, Barreiro J, Pombo M. Loidi L, et al. Among authors: dominguez f. J Clin Endocrinol Metab. 1999 Dec;84(12):4749. doi: 10.1210/jcem.84.12.6272-6. J Clin Endocrinol Metab. 1999. PMID: 10599751 No abstract available.

3

LightCycler PCR assay for genotyping codon 634 mutations in the RET protooncogene.

de la Fuente M, Quinteiro C, Dominguez F, Loidi L. de la Fuente M, et al. Among authors: dominguez f. Clin Chem. 2001 Jun;47(6):1131-2. Clin Chem. 2001. PMID: 11375311 No abstract available.

4

Novel mutation involving the translation initiation codon of the growth hormone receptor gene (GHR) in a patient with Laron syndrome.

Quinteiro C, Castro-Feijoo L, Loidi L, Barreiro J, de la Fuente M, Dominguez F, Pombo M. Quinteiro C, et al. Among authors: dominguez f. J Pediatr Endocrinol Metab. 2002 Jul-Aug;15(7):1041-5. doi: 10.1515/jpem.2002.15.7.1041. J Pediatr Endocrinol Metab. 2002. PMID: 12199334

5

Kallmann's syndrome with a novel missense mutation in the KAL1 gene that modifies the major cell adhesion site of the anosmin-1 protein.

Loidi L, Castro-Feijóo L, Barreiro J, Quinteiro C, Cabanas P, Varela R, Alonso A, Domínguez F, Pombo M. Loidi L, et al. Among authors: dominguez f. J Pediatr Endocrinol Metab. 2005 Jun;18(6):545-8. doi: 10.1515/jpem.2005.18.6.545. J Pediatr Endocrinol Metab. 2005. PMID: 16042321

6

High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect.

Loidi L, Quinteiro C, Parajes S, Barreiro J, Lestón DG, Cabezas-Agrícola JM, Sueiro AM, Araujo-Vilar D, Catro-Feijóo L, Costas J, Pombo M, Domínguez F. Loidi L, et al. Among authors: dominguez f. Clin Endocrinol (Oxf). 2006 Mar;64(3):330-6. doi: 10.1111/j.1365-2265.2006.02465.x. Clin Endocrinol (Oxf). 2006. PMID: 16487445

7

A simple and robust quantitative PCR assay to determine CYP21A2 gene dose in the diagnosis of 21-hydroxylase deficiency.

Parajes S, Quinterio C, Domínguez F, Loidi L. Parajes S, et al. Among authors: dominguez f. Clin Chem. 2007 Sep;53(9):1577-84. doi: 10.1373/clinchem.2007.087361. Epub 2007 Jul 18. Clin Chem. 2007. PMID: 17634211

8

High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency.

Parajes S, Quinteiro C, Domínguez F, Loidi L. Parajes S, et al. Among authors: dominguez f. PLoS One. 2008 May 14;3(5):e2138. doi: 10.1371/journal.pone.0002138. PLoS One. 2008. PMID: 18478071 Free PMC article.

9

Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?

Castro-Feijóo L, Loidi L, Vidal A, Parajes S, Rosón E, Alvarez A, Cabanas P, Barreiro J, Alonso A, Domínguez F, Pombo M. Castro-Feijóo L, et al. Among authors: dominguez f. Eur J Endocrinol. 2008 Sep;159(3):243-9. doi: 10.1530/EJE-08-0393. Epub 2008 Jun 26. Eur J Endocrinol. 2008. PMID: 18583390

10

Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.

Parajes S, Loidi L, Reisch N, Dhir V, Rose IT, Hampel R, Quinkler M, Conway GS, Castro-Feijóo L, Araujo-Vilar D, Pombo M, Dominguez F, Williams EL, Cole TR, Kirk JM, Kaminsky E, Rumsby G, Arlt W, Krone N. Parajes S, et al. Among authors: dominguez f. J Clin Endocrinol Metab. 2010 Feb;95(2):779-88. doi: 10.1210/jc.2009-0651. Epub 2010 Jan 20. J Clin Endocrinol Metab. 2010. PMID: 20089618 Free PMC article.

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