المؤلفون: Luciane R. Cavalli, Bassem R. Haddad, Giovanna Assis Rodrigues, Mara Albonei Dudeque Pianovski, Enzo Lalli, Luiz DeLacerda, Raul C. Ribeiro, Bonald C. Figueiredo, Gerard P. Zambetti, Romolo Sandrini

المصدر: The Journal of clinical endocrinology and metabolism. 90(2)

مصطلحات موضوعية: Steroidogenic factor 1, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Receptors, Cytoplasmic and Nuclear, Biology, medicine.disease_cause, Steroidogenic Factor 1, Biochemistry, Endocrinology, Internal medicine, medicine, Humans, Child, Gene, Genetics, Homeodomain Proteins, Adrenal cortex, Incidence, Biochemistry (medical), Gene Amplification, Chromosome Mapping, Adrenal Cortex Neoplasms, DNA-Binding Proteins, medicine.anatomical_structure, Chromosomal region, Carcinogenesis, Chromosomes, Human, Pair 9, Brazil, Comparative genomic hybridization, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e660626712f28c6b443605c5b390122fTest
https://pubmed.ncbi.nlm.nih.gov/15546904Test

المؤلفون: Adela Voican, Jérôme Dulon, Anne Bachelot, Marc Lombès, Jérôme Bouligand, Bruno Francou, Philippe Touraine, Anne Guiochon-Mantel

المصدر: The Journal of clinical endocrinology and metabolism. 98(5)

مصطلحات موضوعية: Adult, endocrine system, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Primary ovarian insufficiency, Molecular Sequence Data, Mutation, Missense, Context (language use), Biology, Primary Ovarian Insufficiency, medicine.disease_cause, Steroidogenic Factor 1, Biochemistry, Cohort Studies, Young Adult, Endocrinology, Africa, Northern, Genes, Reporter, Internal medicine, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Gene, Genetic Association Studies, Family Health, Transcriptional activity, Mutation, Biochemistry (medical), NR5A1 gene, Significant difference, Reproducibility of Results, Recombinant Proteins, Europe, Amino Acid Substitution, Female, Sequence Alignment

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::032b3ee707791dbfa2b2b4128e814a53Test
https://pubmed.ncbi.nlm.nih.gov/23543655Test

المؤلفون: L. Castaño, Nuria Toran, E. García-García, Pilar Andaluz, Primus E. Mullis, A. Carrascosa, Laura Audí, Marco Janner, Núria Camats, Francisca Moreno, Teoman Akcay, R. Gracia, Mónica Fernández-Cancio, Manuel Nistal, M. T. Muñoz, Abdullah Bereket, Amit V. Pandey, Christa E. Flück

المساهمون: Camats, N., Pandey, A. V., Fernandez-Cancio, M., Andaluz, P., Janner, M., Toran, N., Moreno, F., Bereket, A., Akcay, T., Garcia-Garcia, E., Munoz, M. T., Gracia, R., Nistal, M., Castano, L., Mullis, P. E., Carrascosa, A., Audi, L., Flueck, C. E.

المصدر: The Journal of clinical endocrinology and metabolism
Camats Tarruella, Núria; Pandey, Amit Vikram; Fernández-Cancio, M.; Andaluz, P.; Janner, Marco; Torán, N.; Moreno, F.; Bereket, A.; Akcay, T.; García-García, E.; Muñoz, M. T.; Gracia, R.; Nistal, M.; Castaño, L.; Mullis, Primus-Eugen; Carrascosa, A.; Audí, L.; Flück Pandey, Christa Emma (2012). Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals. Journal of clinical endocrinology and metabolism, 97(7), E1294-306. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2011-3169 <http://dx.doi.org/10.1210/jc.2011-3169Test>

مصطلحات موضوعية: Male, Steroidogenic factor 1, 46, XX Disorders of Sex Development, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Clinical Biochemistry, Primary Ovarian Insufficiency, Steroidogenic Factor 1, medicine.disease_cause, STEROIDOGENIC FACTOR-I, Biochemistry, 0302 clinical medicine, Endocrinology, Young adult, Child, 0303 health sciences, Mutation, Phenotype, 3. Good health, SF1, Child, Preschool, SF-1, Female, XY GONADAL-DYSGENESIS, medicine.medical_specialty, endocrine system, Adolescent, Molecular Sequence Data, 030209 endocrinology & metabolism, Context (language use), 610 Medicine & health, Biology, PATIENT, Young Adult, 03 medical and health sciences, HETEROZYGOUS MUTATION, Internal medicine, medicine, Humans, Point Mutation, Genetic Predisposition to Disease, Gene, 030304 developmental biology, Disorder of Sex Development, 46,XY, Base Sequence, Point mutation, Biochemistry (medical), Heterozygote advantage, FACTOR-1, GLY146ALA POLYMORPHISM, DNA-BINDING DOMAIN, ADRENAL INSUFFICIENCY

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be9aef72c141816e92e211c8403081abTest