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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 Sep;26(9):1329-1338. doi: 10.1038/s41431-018-0202-7. Epub 2018 Jun 11.


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.


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.


A rare cause of primary adrenal insufficiency due to a homozygous Arg188Cys mutation in the STAR gene.

Burget L, Parera LA, Fernandez-Cancio M, Gräni R, Henzen C, Flück CE.

Endocrinol Diabetes Metab Case Rep. 2018 Mar 21;2018. pii: 18-0003. doi: 10.1530/EDM-18-0003. eCollection 2018.


[Body mass index and tri-ponderal mass index of 1,453 healthy non-obese, non-undernourished millennial children. The Barcelona longitudinal growth study].

Carrascosa A, Yeste D, Moreno-Galdó A, Gussinyé M, Ferrández Á, Clemente M, Fernández-Cancio M.

An Pediatr (Barc). 2018 Sep;89(3):137-143. doi: 10.1016/j.anpedi.2017.12.016. Epub 2018 Feb 22. Spanish.


[Pubertal growth of 1,453 healthy children according to age at pubertal growth spurt onset. The Barcelona longitudinal growth study].

Carrascosa A, Yeste D, Moreno-Galdó A, Gussinyé M, Ferrández Á, Clemente M, Fernández-Cancio M.

An Pediatr (Barc). 2018 Sep;89(3):144-152. doi: 10.1016/j.anpedi.2017.11.018. Epub 2018 Feb 21. Spanish.


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. Review.


Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17α-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients.

Fernández-Cancio M, García-García E, González-Cejudo C, Martínez-Maestre MA, Mangas-Cruz MA, Guerra-Junior G, Pandi de Mello M, Arnhold IJP, Nishi MY, Bilharinho Mendonça B, García-Arumí E, Audí L, Tizzano E, Carrascosa A.

Sex Dev. 2017;11(2):70-77. doi: 10.1159/000468160. Epub 2017 Apr 4.


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.


Nutritional rickets: vitamin D, calcium, and the genetic make-up.

El Kholy M, Elsedfy H, Fernández-Cancio M, Hamza RT, Amr NH, Ahmed AY, Toaima NN, Audí L.

Pediatr Res. 2017 Feb;81(2):356-363. doi: 10.1038/pr.2016.222. Epub 2016 Nov 3.


Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes.

Tiosano D, Audi L, Climer S, Zhang W, Templeton AR, Fernández-Cancio M, Gershoni-Baruch R, Sánchez-Muro JM, El Kholy M, Hochberg Z.

G3 (Bethesda). 2016 May 3;6(5):1251-66. doi: 10.1534/g3.115.026773.


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.


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.


Complete androgen insensitivity syndrome associated with male gender identity or female precocious puberty in the same family.

Bermúdez de la Vega JA, Fernández-Cancio M, Bernal S, Audí L.

Sex Dev. 2015;9(2):75-9. doi: 10.1159/000371617. Epub 2015 Jan 29.


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.


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.


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.

Clin Endocrinol (Oxf). 2013 Feb;78(2):255-62. doi: 10.1111/j.1365-2265.2012.04481.x.


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.


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.


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.

J Clin Endocrinol Metab. 2011 Jan;96(1):E65-72. doi: 10.1210/jc.2010-1056. Epub 2010 Oct 20.


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