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Items: 17

1.

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.

Eur J Hum Genet. 2018 Jun 11. doi: 10.1038/s41431-018-0202-7. [Epub ahead of print]

PMID:
29891883
2.

Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency.

Fernández-Cancio M, Camats N, Flück CE, Zalewski A, Dick B, Frey BM, Monné R, Torán N, Audí L, Pandey AV.

Pharmaceuticals (Basel). 2018 Apr 29;11(2). pii: E37. doi: 10.3390/ph11020037.

3.

GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes.

Martinez de LaPiscina I, de Mingo C, Riedl S, Rodriguez A, Pandey AV, Fernández-Cancio M, Camats N, Sinclair A, Castaño L, Audi L, Flück CE.

Front Endocrinol (Lausanne). 2018 Apr 4;9:142. doi: 10.3389/fendo.2018.00142. eCollection 2018.

4.

Development of Laboratory Investigations in Disorders of Sex Development.

Audí L, Camats N, Fernández-Cancio M, Granada ML.

Sex Dev. 2018;12(1-3):7-18. doi: 10.1159/000479719. Epub 2017 Sep 13.

PMID:
28898878
5.

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.

Prasad R, Hadjidemetriou I, Maharaj A, Meimaridou E, Buonocore F, Saleem M, Hurcombe J, Bierzynska A, Barbagelata E, Bergadá I, Cassinelli H, Das U, Krone R, Hacihamdioglu B, Sari E, Yesilkaya E, Storr HL, Clemente M, Fernandez-Cancio M, Camats N, Ram N, Achermann JC, Van Veldhoven PP, Guasti L, Braslavsky D, Guran T, Metherell LA.

J Clin Invest. 2017 Mar 1;127(3):942-953. doi: 10.1172/JCI90171. Epub 2017 Feb 6.

6.

Non-Virilizing Congenital Adrenal Hyperplasia in a Female Patient with a Novel HSD3B2 Mutation.

Probst-Scheidegger U, Udhane SS, l'Allemand D, Flück CE, Camats N.

Sex Dev. 2016;10(4):200-204. Epub 2016 Sep 15.

7.

Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype.

Camats N, Fernández-Cancio M, Audí L, Mullis PE, Moreno F, González Casado I, López-Siguero JP, Corripio R, Bermúdez de la Vega JA, Blanco JA, Flück CE.

PLoS One. 2015 Nov 16;10(11):e0142831. doi: 10.1371/journal.pone.0142831. eCollection 2015.

8.

A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene.

Camats N, Üstyol A, Atabek ME, Dick B, Flück CE.

Clin Case Rep. 2015 Oct;3(10):793-7. doi: 10.1002/ccr3.343. Epub 2015 Aug 26.

9.

LRH-1 May Rescue SF-1 Deficiency for Steroidogenesis: An in vitro and in vivo Study.

Camats N, Audí L, Fernández-Cancio M, Andaluz P, Mullis PE, Carrascosa A, Flück CE.

Sex Dev. 2015;9(3):144-54. doi: 10.1159/000381575. Epub 2015 Apr 17.

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.

PLoS One. 2014 Aug 14;9(8):e104838. doi: 10.1371/journal.pone.0104838. eCollection 2014.

11.

Testicular differentiation factor SF-1 is required for human spleen development.

Zangen D, Kaufman Y, Banne E, Weinberg-Shukron A, Abulibdeh A, Garfinkel BP, Dweik D, Kanaan M, Camats N, Flück C, Renbaum P, Levy-Lahad E.

J Clin Invest. 2014 May;124(5):2071-5. Epub 2014 Apr 8.

12.

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.

Clin Endocrinol (Oxf). 2014 Feb;80(2):191-9. doi: 10.1111/cen.12293. Epub 2013 Aug 17. Review.

PMID:
23859637
13.

Contribution of rare copy number variants to isolated human malformations.

Serra-Juhé C, Rodríguez-Santiago B, Cuscó I, Vendrell T, Camats N, Torán N, Pérez-Jurado LA.

PLoS One. 2012;7(10):e45530. doi: 10.1371/journal.pone.0045530. Epub 2012 Oct 3.

14.

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.

Clin Endocrinol (Oxf). 2012 Oct;77(4):564-74. doi: 10.1111/j.1365-2265.2012.04410.x.

PMID:
22489751
15.

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.

PLoS One. 2011;6(5):e20178. doi: 10.1371/journal.pone.0020178. Epub 2011 May 27.

16.

Pairing and recombination features during meiosis in Cebus paraguayanus (Primates: Platyrrhini).

Garcia-Cruz R, Robles P, Steinberg ER, Camats N, Brieño MA, Garcia-Caldés M, Mudry MD.

BMC Genet. 2009 Jun 5;10:25. doi: 10.1186/1471-2156-10-25.

17.

Trans-generational radiation-induced chromosomal instability in the female enhances the action of chemical mutagens.

Camats N, García F, Parrilla JJ, Calaf J, Martín M, Caldés MG.

Mutat Res. 2008 Apr 2;640(1-2):16-26. doi: 10.1016/j.mrfmmm.2007.11.009. Epub 2007 Dec 8.

PMID:
18206182

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