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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 -
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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: Kam-Bo Wong, C. P. Cheung, Fernand M. M. Lai, Shiuan Chen, Franky L. Chan, Shan Yu, L. W. Chan, Masatomo Suetsugi, Xianghong Wang
المصدر: The Journal of clinical endocrinology and metabolism. 90(3)
مصطلحات موضوعية: Male, medicine.medical_specialty, Cell type, Adolescent, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Green Fluorescent Proteins, Estrogen receptor, Gene Expression, Mice, Nude, Receptors, Cytoplasmic and Nuclear, Biology, Steroidogenic Factor 1, Transfection, Biochemistry, Mice, Endocrinology, Internal medicine, Cell Line, Tumor, medicine, Animals, Humans, RNA, Messenger, Receptor, Transcription factor, Estrogen receptor beta, Homeodomain Proteins, Mice, Inbred BALB C, Biochemistry (medical), Estrogen Receptor alpha, Prostate, Prostatic Neoplasms, DNA-Binding Proteins, Receptors, Estrogen, Immortalised cell line, Estrogen receptor alpha, Cell Division, Neoplasm Transplantation, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9f39847067d43e54f72e944c1c78ff1Test
https://pubmed.ncbi.nlm.nih.gov/15598686Test -
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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