Audí L - Search Results

1

Woman with virilizing congenital adrenal hyperplasia and Leydig cell tumor of the ovary.

Fernández-García Salazar R, Muñoz-Darias C, Haro-Mora JJ, Almaraz MC, Audí L, Martínez-Tudela J, Yahyaoui R, Esteva I. Fernández-García Salazar R, et al. Among authors: audi l. Gynecol Endocrinol. 2014 Aug;30(8):549-52. doi: 10.3109/09513590.2014.907260. Epub 2014 Apr 7. Gynecol Endocrinol. 2014. PMID: 24702195 Free article.

2

Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease.

Flück CE, Audí L, Fernández-Cancio M, Sauter KS, Martinez de LaPiscina I, Castaño L, Esteva I, Camats N. Flück CE, et al. Among authors: audi l. Front Genet. 2019 Aug 29;10:746. doi: 10.3389/fgene.2019.00746. eCollection 2019. Front Genet. 2019. PMID: 31555317 Free PMC article.

3

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.

4

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.

5

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.

6

Male pseudohermaphroditism due to Leydig cell agenesia and absence of testicular LH receptors.

Martínez-Mora J, Sáez JM, Torán N, Isnard R, Pérez-Iribarne MM, Egozcue J, Audí L. Martínez-Mora J, et al. Among authors: audi l. Clin Endocrinol (Oxf). 1991 Jun;34(6):485-91. doi: 10.1111/j.1365-2265.1991.tb00329.x. Clin Endocrinol (Oxf). 1991. PMID: 1909608

7

[Adult height, pattern of growth and pubertal development in patients with congenital adrenal hyperplasia, salt losing form].

Gussinyé M, Potau N, Vicens-Calvet E, Albisu MA, Yeste D, Ibáñez L, Audí L, Carrascosa A. Gussinyé M, et al. Among authors: audi l. Med Clin (Barc). 1997 Jan 25;108(3):87-90. Med Clin (Barc). 1997. PMID: 9064437 Spanish.

8

ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation.

Yeste D, González-Niño C, Pérez de Nanclares G, Pérez-Nanclares G, Audi L, Castaño L, Carrascosa A. Yeste D, et al. Among authors: audi l. Eur J Pediatr. 2009 Jan;168(1):65-9. doi: 10.1007/s00431-008-0710-5. Epub 2008 Apr 15. Eur J Pediatr. 2009. PMID: 18414894

9

Height gain at adult-height age in 184 short patients treated with growth hormone from prepubertal age to near adult-height age is not related to GH secretory status at GH therapy onset.

Carrascosa A, Audí L, Fernández-Cancio M, Yeste D, Gussinye M, Campos A, Albisu MA, Clemente M, Bel J, Nosás R, Rabanal M, Del Pozo C, Gómez JM, Mesa J; Group for Short Stature Study. Carrascosa A, et al. Among authors: audi l. Horm Res Paediatr. 2013;79:145-56. doi: 10.1159/000348540. Epub 2013 Mar 28. Horm Res Paediatr. 2013. PMID: 23548791

10

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

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