The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD): III) Biochemical and genetic markers in the 46,XYIV) Proposals for the diffe... von Granada, Maria Luisa, Audí, Laura

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Rickets in the Middle East: Role of Environment and Genetic Predisposition von Baroncelli, Giampiero I., Bereket, Abdullah, El Kholy, Mohamed, Audì, Laura, Cesur, Yasar, Ozkan, Behzat, Rashad, Mona, Fernández-Cancio, Monica, Weisman, Yoseph, Saggese, Giuseppe, Hochberg, Ze'ev

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A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation von Hornig, Nadine C, de Beaufort, Carine, Denzer, Friederike, Cools, Martine, Wabitsch, Martin, Ukat, Martin, Kulle, Alexandra E, Schweikert, Hans-Udo, Werner, Ralf, Hiort, Olaf, Audi, Laura, Siebert, Reiner, Ammerpohl, Ole, Holterhus, Paul-Martin

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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 von Fernández-Cancio, Mónica, Camats, Núria, Flück, Christa E, Zalewski, Adam, Dick, Bernhard, Frey, Brigitte M, Monné, Raquel, Torán, Núria, Audí, Laura, Pandey, Amit V

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Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype von Camats, Núria, Fernández-Cancio, Mónica, Audí, Laura, Mullis, Primus E, Moreno, Francisca, González Casado, Isabel, López-Siguero, Juan Pedro, Corripio, Raquel, Bermúdez de la Vega, José Antonio, Blanco, José Antonio, Flück, Christa E

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Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia von Flück, Christa E, Pandey, Amit V, Dick, Bernhard, Camats, Núria, Fernández-Cancio, Mónica, Clemente, María, Gussinyé, Miquel, Carrascosa, Antonio, Mullis, Primus E, Audi, Laura

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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 von Martinez de LaPiscina, Idoia, de Mingo, Carmen, Riedl, Stefan, Rodriguez, Amaia, Pandey, Amit V, Fernández-Cancio, Mónica, Camats, Nuria, Sinclair, Andrew, Castaño, Luis, Audi, Laura, Flück, Christa E

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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 bey... von Malikova, Jana, Camats, Núria, Fernández-Cancio, Mónica, Heath, Karen, González, Isabel, Caimarí, María, del Campo, Miguel, Albisu, Marian, Kolouskova, Stanislava, Audí, Laura, Flück, Christa E

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

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Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes von Tiosano, Dov, Audi, Laura, Climer, Sharlee, Zhang, Weixiong, Templeton, Alan R, Fernández-Cancio, Monica, Gershoni-Baruch, Ruth, Sánchez-Muro, José Miguel, El Kholy, Mohamed, Hochberg, Zèev

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Growth Hormone Receptor Polymorphism and Growth Hormone Therapy Response in Children: A Bayesian Meta-Analysis von RENEHAN, Andrew G, SOLOMON, Mattea, CARRASCOSA, Antonio, HOKKEN-KOELEGA, Anita, JORGE, Alexander, MULLIS, Primus E, TAUBER, Maïthé, PATEL, Leena, CLAYTON, Peter E, ZWAHLEN, Marcel, MORJARIA, Reena, WHATMORE, Andrew, AUDI, Laura, BINDER, Gerhard, BLUM, Werner, BOUGNERES, Pierre, SANTOS, Christine Dos

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Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF-I receptor (IGF1R) gene von Labarta, José I., Barrio, Eva, Audí, Laura, Fernández-Cancio, Mónica, Andaluz, Pilar, de Arriba, Antonio, Puga, Beatriz, Calvo, María T., Mayayo, Esteban, Carrascosa, Antonio, Ferrández-Longás, Angel

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Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin? von Camats, Núria, Fernández-Cancio, Mónica, Audí, Laura, Schaller, André, Flück, Christa E

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Gender-associated differences of perforin polymorphisms in the susceptibility to multiple sclerosis von Camiña-Tato, Montse, Morcillo-Suárez, Carlos, Bustamante, Marta F, Ortega, Israel, Navarro, Arcadi, Muntasell, Aura, López-Botet, Miguel, Sánchez, Alex, Carmona, Paco, Julià, Eva, Tortola, María Teresa, Audí, Laura, Oksenberg, Jorge R, Martin, Roland, Montalban, Xavier, Comabella, Manuel

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Molecular Aspects of Sex Development in Mammals: New Insight for Practice von Audí, Laura, Bertelloni, Silvano, Flück, Christa E

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Exon 3-Deleted/Full-Length Growth Hormone Receptor Polymorphism Genotype Frequencies in Spanish Short Small-for-Gestational-Age (SGA) Children and Adolescents (n = 247) and in an A... von Audí, Laura, Esteban, Cristina, Carrascosa, Antonio, Espadero, Rosa, Pérez-Arroyo, Annalisa, Arjona, Rosa, Clemente, María, Wollmann, Hartmut, Fryklund, Linda, Parodi, Luis A.

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Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease von Flück, Christa E., Audí, Laura, Fernández-Cancio, Mónica, Sauter, Kay-Sara, Martinez de LaPiscina, Idoia, Castaño, Luis, Esteva, Isabel, Camats, Núria

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Clinical usefulness of growth hormone secretion elicited by acute stimulation tests von Laura, Audí, Antonio, Carrascosa

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Decreased cell proliferation and higher oxidative stress in fibroblasts from Down Syndrome fetuses. Preliminary study von Gimeno, Amparo, García-Giménez, José Luis, Audí, Laura, Toran, Nuria, Andaluz, Pilar, Dasí, Francisco, Viña, José, Pallardó, Federico V.

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Clinical usefulness of growth hormone secretion elicited by acute stimulation tests von Audí, Laura, Carrascosa, Antonio

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