Audí L - Search Results

1

STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.

Camats N, Pandey AV, Fernández-Cancio M, Fernández JM, Ortega AM, Udhane S, Andaluz P, Audí L, Flück CE. Camats N, et al. Among authors: audi l. Clin Endocrinol (Oxf). 2014 Feb;80(2):191-9. doi: 10.1111/cen.12293. Epub 2013 Aug 17. Clin Endocrinol (Oxf). 2014. PMID: 23859637 Review.

2

Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity.

Hirsch A, Meimaridou E, Fernandez-Cancio M, Pandey AV, Clemente M, Audi L, Clark AJ, Flück CE. Hirsch A, et al. Among authors: audi l. J Clin Endocrinol Metab. 2011 Jan;96(1):E65-72. doi: 10.1210/jc.2010-1056. Epub 2010 Oct 20. J Clin Endocrinol Metab. 2011. PMID: 20962024

3

Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia.

Flück CE, Pandey AV, Dick B, Camats N, Fernández-Cancio M, Clemente M, Gussinyé M, Carrascosa A, Mullis PE, Audi L. Flück CE, et al. Among authors: audi l. PLoS One. 2011;6(5):e20178. doi: 10.1371/journal.pone.0020178. Epub 2011 May 27. PLoS One. 2011. PMID: 21647419 Free PMC article.

4

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

Camats N, Fernández-Cancio M, Audí L, Schaller A, Flück CE. Camats N, et al. Among authors: audi l. Eur J Hum Genet. 2018 Sep;26(9):1329-1338. doi: 10.1038/s41431-018-0202-7. Epub 2018 Jun 11. Eur J Hum Genet. 2018. PMID: 29891883 Free PMC article.

5

Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype.

Parween S, Fernández-Cancio M, Benito-Sanz S, Camats N, Rojas Velazquez MN, López-Siguero JP, Udhane SS, Kagawa N, Flück CE, Audí L, Pandey AV. Parween S, et al. Among authors: audi l. J Clin Endocrinol Metab. 2020 Apr 1;105(4):dgaa076. doi: 10.1210/clinem/dgaa076. J Clin Endocrinol Metab. 2020. PMID: 32060549 Free article.

6

Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals.

Camats N, Pandey AV, Fernández-Cancio M, Andaluz P, Janner M, Torán N, Moreno F, Bereket A, Akcay T, García-García E, Muñoz MT, Gracia R, Nistal M, Castaño L, Mullis PE, Carrascosa A, Audí L, Flück CE. Camats N, et al. Among authors: audi l. J Clin Endocrinol Metab. 2012 Jul;97(7):E1294-306. doi: 10.1210/jc.2011-3169. Epub 2012 May 1. J Clin Endocrinol Metab. 2012. PMID: 22549935 Free article.

7

Human growth hormone (GH1) gene polymorphism map in a normal-statured adult population.

Esteban C, Audí L, Carrascosa A, Fernández-Cancio M, Pérez-Arroyo A, Ulied A, Andaluz P, Arjona R, Albisu M, Clemente M, Gussinyé M, Yeste D. Esteban C, et al. Among authors: audi l. Clin Endocrinol (Oxf). 2007 Feb;66(2):258-68. doi: 10.1111/j.1365-2265.2006.02718.x. Clin Endocrinol (Oxf). 2007. PMID: 17223997 Free PMC article.

8

Contribution of human growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to isolated severe growth hormone deficiency (ISGHD) and normal adult height.

Camats N, Fernández-Cancio M, Carrascosa A, Andaluz P, Albisu MÁ, Clemente M, Gussinyé M, Yeste D, Audí L. Camats N, et al. Among authors: audi l. Clin Endocrinol (Oxf). 2012 Oct;77(4):564-74. doi: 10.1111/j.1365-2265.2012.04410.x. Clin Endocrinol (Oxf). 2012. PMID: 22489751

9

Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF-I receptor (IGF1R) gene.

Labarta JI, Barrio E, Audí L, Fernández-Cancio M, Andaluz P, de Arriba A, Puga B, Calvo MT, Mayayo E, Carrascosa A, Ferrández-Longás A. Labarta JI, et al. Among authors: audi l. Clin Endocrinol (Oxf). 2013 Feb;78(2):255-62. doi: 10.1111/j.1365-2265.2012.04481.x. Clin Endocrinol (Oxf). 2013. PMID: 22738321

10

Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis.

Malikova J, Camats N, Fernández-Cancio M, Heath K, González I, Caimarí M, del Campo M, Albisu M, Kolouskova S, Audí L, Flück CE. Malikova J, et al. Among authors: audi l. PLoS One. 2014 Aug 14;9(8):e104838. doi: 10.1371/journal.pone.0104838. eCollection 2014. PLoS One. 2014. PMID: 25122490 Free PMC article.

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