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Items: 1 to 20 of 47


GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 "DSDnet".

Audí L, Ahmed SF, Krone N, Cools M, McElreavey K, Holterhus PM, Greenfield A, Bashamboo A, Hiort O, Wudy SA, McGowan R.

Eur J Endocrinol. 2018 Jul 4. pii: EJE-18-0256. doi: 10.1530/EJE-18-0256. [Epub ahead of print]


Involving Individuals with Disorders of Sex Development and Their Parents in Exploring New Models of Shared Learning: Proceedings from a DSDnet COST Action Workshop.

Sanders C, Hall J, Sanders C, Dessens A, Bryce J, Callens N, Cools M, Kourime M, Kyriakou A, Springer A, Audi L, Balsamo A, Iotova V, Mladenov V, Krawczynski M, Nordenskjöld A, Rozas M, Claahsen-van der Grinten H, Hiort O, Riedl S, Ahmed SF.

Sex Dev. 2018 Jun 23. doi: 10.1159/000490081. [Epub ahead of print]


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]


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.


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.


Transient hyperandrogenism in 2 preterm twins with exposure to antiretrovirals.

García García E, Falcón-Neyra L, Audí L.

Med Clin (Barc). 2018 Jan 23;150(2):81-82. doi: 10.1016/j.medcli.2017.07.005. Epub 2017 Aug 31. English, Spanish. No abstract available.


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.


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.


A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation.

Hornig NC, de Beaufort C, Denzer F, Cools M, Wabitsch M, Ukat M, Kulle AE, Schweikert HU, Werner R, Hiort O, Audi L, Siebert R, Ammerpohl O, Holterhus PM.

PLoS One. 2016 Apr 25;11(4):e0154158. doi: 10.1371/journal.pone.0154158. eCollection 2016.


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.


Intracellular oxidant activity, antioxidant enzyme defense system, and cell senescence in fibroblasts with trisomy 21.

Rodríguez-Sureda V, Vilches Á, Sánchez O, Audí L, Domínguez C.

Oxid Med Cell Longev. 2015;2015:509241. doi: 10.1155/2015/509241. Epub 2015 Mar 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.


Promoter-dependent activity on androgen receptor N-terminal domain mutations in androgen insensitivity syndrome.

Tadokoro-Cuccaro R, Davies J, Mongan NP, Bunch T, Brown RS, Audi L, Watt K, McEwan IJ, Hughes IA.

Sex Dev. 2014;8(6):339-49. doi: 10.1159/000369266. Epub 2014 Dec 6.


Past experiences of adults with disorders of sex development.

GrApSIA, Audí L.

Endocr Dev. 2014;27:138-48. doi: 10.1159/000363639. Epub 2014 Sep 12. Review.


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.


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.

Gynecol Endocrinol. 2014 Aug;30(8):549-52. doi: 10.3109/09513590.2014.907260. Epub 2014 Apr 7.


Novel associations in disorders of sex development: findings from the I-DSD Registry.

Cox K, Bryce J, Jiang J, Rodie M, Sinnott R, Alkhawari M, Arlt W, Audi L, Balsamo A, Bertelloni S, Cools M, Darendeliler F, Drop S, Ellaithi M, Guran T, Hiort O, Holterhus PM, Hughes I, Krone N, Lisa L, Morel Y, Soder O, Wieacker P, Ahmed SF.

J Clin Endocrinol Metab. 2014 Feb;99(2):E348-55. doi: 10.1210/jc.2013-2918. Epub 2013 Dec 3.

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