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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 -
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المؤلفون: Marine Guillaud-Bataille, Xavier Bertagna, Frédérique Tissier, C. Auzan, Hortense Wilmot-Roussel, Jérôme Bertherat, Bertrand Dousset, Fernande René-Corail, Eric Clauser, Guillaume Assié, Aurélien de Reyniès, Olivia Barreau
المصدر: The Journal of Clinical Endocrinology & Metabolism; Vol 97
The Journal of Clinical Endocrinology & Metabolismمصطلحات موضوعية: Steroidogenic factor 1, Adenoma, Adult, Male, Adolescent, DNA Copy Number Variations, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Locus (genetics), Biology, Malignancy, medicine.disease_cause, Bioinformatics, Biochemistry, Genome, Transcriptome, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Endocrinology, Carcinoma, medicine, Humans, 030304 developmental biology, Aged, Aged, 80 and over, Chromosome Aberrations, 0303 health sciences, Comparative Genomic Hybridization, Biochemistry (medical), Genomics, Middle Aged, medicine.disease, Adrenal Cortex Neoplasms, 3. Good health, Systems Integration, 030220 oncology & carcinogenesis, Female, Carcinogenesis, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d73d21173f2ef58aa7a6b13fb88650a4Test
https://pubmed.ncbi.nlm.nih.gov/22112813Test -
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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