Search Results - "Audí, Laura"

Oligogenic Origin of Differences of Sex Development in Humans by Camats, Núria, Flück, Christa E, Audí, Laura

“…Sex development is a very complex biological event that requires the concerted collaboration of a large network of genes in a spatial and temporal correct…”
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Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin? by Camats, Núria, Fernández-Cancio, Mónica, Audí, Laura, Schaller, André, Flück, Christa E

“…SF-1/NR5A1 is a transcriptional regulator of adrenal and gonadal development. NR5A1 disease-causing variants cause disorders of sex development (DSD) and…”
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Molecular Aspects of Sex Development in Mammals: New Insight for Practice by Audí, Laura, Bertelloni, Silvano, Flück, Christa E

“…Disorders (or differences) of sex development (DSD) are congenital conditions characterized by atypical development of genetic, gonadal or phenotypic sex [...]…”
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Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease by Flück, Christa E., Audí, Laura, Fernández-Cancio, Mónica, Sauter, Kay-Sara, Martinez de LaPiscina, Idoia, Castaño, Luis, Esteva, Isabel, Camats, Núria

“…Disorders/differences of sex development (DSD) are the result of a discordance between chromosomal, gonadal, and genital sex. DSD may be due to mutations in…”
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Clinical usefulness of growth hormone secretion elicited by acute stimulation tests by Laura, Audí, Antonio, Carrascosa

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The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD) by Granada Maria Luisa, Audí Laura

“…The development of female or male sex characteristics occurs during fetal life, when the genetic, gonadal, and internal and external genital sex is determined…”
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The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD) by Granada Maria Luisa, Audí Laura

“…46,XY differences/disorders of sex development (DSD) involve an abnormal gonadal and/or genital (external and/or internal) development caused by lack or…”
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Decreased cell proliferation and higher oxidative stress in fibroblasts from Down Syndrome fetuses. Preliminary study by Gimeno, Amparo, García-Giménez, José Luis, Audí, Laura, Toran, Nuria, Andaluz, Pilar, Dasí, Francisco, Viña, José, Pallardó, Federico V.

“…Down Syndrome is the most common chromosomal disease and is also known for its decreased incidence of solid tumors and its progeroid phenotype. Cellular and…”
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Clinical usefulness of growth hormone secretion elicited by acute stimulation tests by Audí, Laura, Carrascosa, Antonio

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Five-alpha-reductase type 2 deficiency in Spain by Fernández-Cancio, Mónica, Audí, Laura, Yeste, Diego

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Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype by Parween, Shaheena, Fernández-Cancio, Mónica, Benito-Sanz, Sara, Camats, Núria, Rojas Velazquez, Maria Natalia, López-Siguero, Juan-Pedro, Udhane, Sameer S, Kagawa, Norio, Flück, Christa E, Audí, Laura, Pandey, Amit V

“…Mutations in cytochrome P450 oxidoreductase (POR) cause a form of congenital adrenal hyperplasia (CAH). We report a novel R550W mutation in POR identified in a…”
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Intracellular Oxidant Activity, Antioxidant Enzyme Defense System, and Cell Senescence in Fibroblasts with Trisomy 21 by Rodriguez-Sureda, Victor, Vilches, Angel, Sanchez, Olga, Audi, Laura, Dominguez, Carmen

“…Down’s syndrome (DS) is characterized by a complex phenotype associated with chronic oxidative stress and mitochondrial dysfunction. Overexpression of genes on…”
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Nutritional rickets: vitamin D, calcium, and the genetic make-up by El Kholy, Mohamed, Elsedfy, Heba, Fernández-Cancio, Monica, Hamza, Rasha Tarif, Amr, Nermine Hussein, Ahmed, Alaa Youssef, Toaima, Nadin Nabil, Audí, Laura

“…Background: The prevalence of vitamin D (vitD) deficiency presenting as rickets is increasing worldwide. Insufficient sun exposure, vitD administration, and/or…”
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A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent Müllerian Duct Syndrome by Fernández-Cancio, Mónica, Viswanath, Naveen, Puzhankara, Ramakrishnan, Valiyaprambil Pavithran, Praveen, Mora-Palma, Cristina, Camats, Núria, Audí, Laura, Benito-Sanz, Sara

“…Persistent müllerian duct syndrome (PMDS) is characterized by the presence of müllerian duct derivatives in otherwise phenotypically normal males. Homozygous…”
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A rare cause of primary adrenal insufficiency due to a homozygous Arg188Cys mutation in the STAR gene by Burget, Lukas, Parera, Laura Audí, Fernandez-Cancio, Monica, Gräni, Rolf, Henzen, Christoph, Flück, Christa E

“…Summary Steroidogenic acute regulatory protein (STAR) is a key protein for the intracellular transport of cholesterol to the mitochondrium in endocrine organs…”
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Growth Hormone (GH) Dose, But Not Exon 3-Deleted/Full-Length GH Receptor Polymorphism Genotypes, Influences Growth Response to Two-Year GH Therapy in Short Small-for-Gestational-Age Children by Carrascosa, Antonio, Audí, Laura, Esteban, Cristina, Fernández-Cancio, Mónica, Andaluz, Pilar, Gussinyé, Miquel, Clemente, María, Yeste, Diego, Albisu, María Angeles

“…Context: In short small-for-gestational-age (SGA) patients, the exon 3-deleted(d3)/full-length (fl)-GHR polymorphism was associated with responsiveness to GH…”
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Past experiences of adults with disorders of sex development by Audí, Laura

“…When a human being born with any disorder/difference of sex development (DSD) reaches adulthood, the experience lived may be quite varied, depending partly on…”
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El laboratorio en el diagnóstico multidisciplinar del desarrollo sexual anómalo o diferente (DSD) by Granada Maria Luisa, Audí Laura

“…El desarrollo de las características sexuales femeninas o masculinas acontece durante la vida fetal, determinándose el sexo genético, el gonadal y el sexo…”
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STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases by Camats, Núria, Pandey, Amit V., Fernández-Cancio, Mónica, Fernández, Juan M., Ortega, Ana M., Udhane, Sameer, Andaluz, Pilar, Audí, Laura, Flück, Christa E.

“…Summary Objective The steroidogenic acute regulatory protein (StAR) transports cholesterol to the mitochondria for steroidogenesis. Loss of StAR function…”
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Complete androgen insensitivity syndrome associated with male gender identity or female precocious puberty in the same family by Bermúdez de la Vega, José A, Fernández-Cancio, Mónica, Bernal, Susana, Audí, Laura

“…In 4 complete androgen insensitivity syndrome (CAIS) members of one family, 2 presented extreme and unusual clinical features: male gender identity disorder…”
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