المؤلفون: Raul Nicoli, Cheng Xu, Tiia Kuuranne, Nelly Pitteloud, Serge Rudaz, Martial Saugy, Julien Boccard, Olivier Salamin

المصدر: Journal of pharmaceutical and biomedical analysis, vol. 204, pp. 114280
Journal of pharmaceutical & biomedical analysis, Vol. 204 (2021) P. 114280

مصطلحات موضوعية: medicine.medical_treatment, Clinical Biochemistry, Population, Pharmaceutical Science, Context (language use), Steroid profiling, Testosterone gel, Analytical Chemistry, Steroid, Matrix (chemical analysis), Dried blood spots, Tandem Mass Spectrometry, Drug Discovery, medicine, Humans, Testosterone, education, Spectroscopy, Chromatography, High Pressure Liquid, education.field_of_study, ddc:615, Chromatography, Chemistry, Reproducibility of Results, Venous blood, Chromatography, Liquid, Dried Blood Spot Testing, Female, Steroids, Testosterone Gel, Quantitative analysis (chemistry)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b024e9cb8f76ee66e50695672656a62aTest
https://serval.unil.ch/resource/serval:BIB_0AD6EF5F37CD.P001/REF.pdfTest

المؤلفون: Luigi Maione, Marie Christine De Vernejoul, Agnès Ostertag, Corinne Collet, Martine Cohen-Solal, Jérôme Bouligand, Georgios Papadakis, Nelly Pitteloud, Jacques Young, Séverine Trabado

المصدر: The Journal of clinical endocrinology and metabolism, vol. 106, no. 9, pp. e3312-e3326

مصطلحات موضوعية: musculoskeletal diseases, Adult, Male, medicine.medical_specialty, Bone density, Adolescent, Genotype, Hormone Replacement Therapy, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, 030209 endocrinology & metabolism, Context (language use), Biochemistry, Bone and Bones, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Endocrinology, Absorptiometry, Photon, Bone Density, Internal medicine, Medicine, Humans, Testosterone, Tibia, Congenital hypogonadotropic hypogonadism, HR-pQCT, Kallmann syndrome, androgen replacement therapy, bone microarchitecture, bone mineral density, exome, Quantitative computed tomography, 030304 developmental biology, Femoral neck, Bone mineral, 0303 health sciences, medicine.diagnostic_test, Estradiol, business.industry, Hypogonadism, Biochemistry (medical), Kallmann Syndrome, Middle Aged, medicine.anatomical_structure, Cross-Sectional Studies, Early Diagnosis, Cortical bone, Congenital Hypogonadotropic Hypogonadism, business, Tomography, X-Ray Computed, Gonadotropins

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ee8bf68219daf567ef5502db199223aTest
https://pubmed.ncbi.nlm.nih.gov/33725720Test

المؤلفون: Ravikumar Balasubramanian, Frances J. Hayes, Nelly Pitteloud, Hilana M. Lewkowitz-Shpuntoff, Andrew A. Dwyer, Niraj R. Chavan, William F. Crowley, Stephanie B. Seminara, Lacey Plummer

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Mutation, Missense, 030209 endocrinology & metabolism, Semen analysis, Biochemistry, Gonadotropin-Releasing Hormone, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Endocrinology, Hypogonadotropic hypogonadism, Weight loss, Internal medicine, medicine, Humans, Mass index, Young adult, Clinical Research Articles, Retrospective Studies, medicine.diagnostic_test, business.industry, Hypogonadism, Biochemistry (medical), Retrospective cohort study, Luteinizing Hormone, medicine.disease, Neurosecretory Systems, 030104 developmental biology, medicine.symptom, business, Weight gain, Hormone, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b46e3c6f75b9e6c1702e59ec2e12bd50Test
https://europepmc.org/articles/PMC6594303Test/

المؤلفون: Richard Quinton, Flavia Amanda Costa-Barbosa, Stephanie B. Seminara, Jin Ho Choi, Natalie D. Shaw, Brian F. Meyer, Kimberly Keefe, Nada Al-Tassan, Dorota Monies, Nelly Pitteloud, Andrew A. Dwyer, Janet E. Hall, Lacey Plummer, Cassandra Buck, Ravikumar Balasubramanian, William F. Crowley

المصدر: The Journal of Clinical Endocrinology & Metabolism. 98:E943-E953

مصطلحات موضوعية: Proband, medicine.medical_specialty, Kallmann syndrome, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, 030209 endocrinology & metabolism, Context (language use), Gene mutation, Biology, medicine.disease_cause, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Gene, 030304 developmental biology, Genetic testing, 0303 health sciences, Mutation, medicine.diagnostic_test, Biochemistry (medical), medicine.disease, Phenotype

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::af118e93da070d5675e61033cc92d2d5Test
https://doi.org/10.1210/jc.2012-4116Test

المؤلفون: Philippe Rondard, Oualid Sbai, Marija Pfeifer, Carles Gaston-Massuet, Yasufumi Shigeyoshi, Mehul T. Dattani, Louise C. Gregory, Tony Hulse, Mark J. McCabe, Nelly Pitteloud, Koh-hei Masumoto, Kyriaki S. Alatzoglou, Mamoru Nagano, Charles R. Buchanan, Vaitsa Tziaferi, Juan Pedro Martinez-Barbera

المصدر: The Journal of Clinical Endocrinology and Metabolism

مصطلحات موضوعية: Male, Kallmann syndrome, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Hypopituitarism, Biochemistry, Receptors, G-Protein-Coupled, Cohort Studies, Mice, 0302 clinical medicine, Endocrinology, Septo-Optic Dysplasia, Child, Mice, Knockout, 0303 health sciences, JCEM Online: Advances in Genetics, Homozygote, Pedigree, 3. Good health, Phenotype, Child, Preschool, Female, medicine.symptom, Heterozygote, Hypothalamo-Hypophyseal System, medicine.medical_specialty, Genotype, Receptors, Peptide, Anosmia, Context (language use), Biology, Gastrointestinal Hormones, 03 medical and health sciences, Hypogonadotropic hypogonadism, Internal medicine, medicine, Animals, Humans, Genetic Testing, 030304 developmental biology, Neuropeptides, Biochemistry (medical), Infant, Newborn, Infant, Heterozygote advantage, Septo-optic dysplasia, Kallmann Syndrome, medicine.disease, HEK293 Cells, Dysplasia, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac9f4898d10fd7444d11434a3c086140Test
https://doi.org/10.1210/jc.2012-3067Test

المؤلفون: Teresa Alati, Brent S. Abel, Janet E. Hall, Kathryn A. Martin, Lacey Plummer, Corrine K. Welt, Judith M. Adams, Stephanie B. Seminara, Natalie D. Shaw, Duarte Pignatelli, Jenifer M Brown, Nelly Pitteloud, William F. Crowley

المصدر: The Journal of Clinical Endocrinology & Metabolism. 98:E206-E216

مصطلحات موضوعية: Adult, Infertility, Isolated hypogonadotropic hypogonadism, endocrine system, medicine.medical_specialty, Pituitary gland, Adolescent, Genotype, Hormone Replacement Therapy, medicine.drug_class, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Gonadotropin-releasing hormone, Biology, Hot Topics in Translational Endocrinology, Biochemistry, Gonadotropin-Releasing Hormone, Endocrinology, Hypogonadotropic hypogonadism, Internal medicine, medicine, Humans, Retrospective Studies, Hypogonadism, Biochemistry (medical), Middle Aged, medicine.disease, body regions, Regimen, Treatment Outcome, medicine.anatomical_structure, Sex steroid, Pituitary Gland, Mutation, Female, Gonadotropin, hormones, hormone substitutes, and hormone antagonists

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab6f42c8c187ba787b96ccfc6f395b45Test
https://doi.org/10.1210/jc.2012-3294Test

المؤلفون: Ursula B. Kaiser, Janet E. Hall, Lacey Plummer, William F. Crowley, Nelly Pitteloud, Robert G. Dluhy, Lynne L. Levitsky, Daniel Metzger, Jane Stewart, Elena Gianetti, Victor Y. Fujimoto, Paulina M. Merino, Louise Izatt, Mariarosaria Lang-Muritano, Stephanie B. Seminara, Matthew L Chase, Richard Quinton, Verónica Mericq, Margaret G. Au

المساهمون: University of Zurich, Seminara, Stephanie B

المصدر: The Journal of Clinical Endocrinology & Metabolism. 97:E1798-E1807

مصطلحات موضوعية: Adult, Male, Proband, medicine.medical_specialty, 1303 Biochemistry, Adolescent, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Clinical Biochemistry, 610 Medicine & health, Context (language use), Gonadotropin-releasing hormone, 1308 Clinical Biochemistry, Biology, 2704 Biochemistry (medical), medicine.disease_cause, Biochemistry, Gonadotropin-Releasing Hormone, Young Adult, Endocrinology, Internal medicine, Ethnicity, medicine, Humans, Allele, Amenorrhea, Puberty, Delayed, Genetics, Mutation, JCEM Online: Advances in Genetics, Hypogonadism, Biochemistry (medical), GNRHR, DNA, Phenotype, 1310 Endocrinology, Genetic load, 2712 Endocrinology, Diabetes and Metabolism, 10036 Medical Clinic, Female, Genetic Load, Hypothalamic Diseases, Receptors, LHRH

وصف الملف: GianettiE,_2012.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d100e76921f97b6a24b65752a1e33faaTest
https://doi.org/10.1210/jc.2012-1264Test

المؤلفون: Sally Radovick, Mark J. McCabe, Richard Quinton, Cecilia Martin, Chengkang Zhang, Nelly Pitteloud, Raja Padidela, Christopher J. Romero, Louise C. Gregory, Taneli Raivio, Magdalena Avbelj, Mariet W. Elting, Moosa Mohammadi, Johanna Tommiska, Gerasimos P. Sykiotis, Lacey Plummer, Andrew A. Dwyer, Qun-Yong Zhou, Yisrael Sidis, Huaibin Chen, Bihua Feng, Mehul T. Dattani, Vaitsa Tziaferi, Daniel Diaczok

المساهمون: Human genetics, Other Research

المصدر: Raivio, T, Avbelj, M, Mccabe, M J, Romero, C J, Dwyer, A A, Tommiska, J, Sykiotis, G P, Gregory, L C, Diaczok, D, Tziaferi, V, Elting, M W, Padidela, R, Plummer, L, Martin, C, Feng, B H, Zhang, C K, Zhou, Q Y, Chen, H B, Mohammadi, M, Quinton, R, Sidis, Y, Radovick, S, Dattani, M T & Pitteloud, N 2012, ' Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia ', Journal of Clinical Endocrinology and Metabolism, vol. 97, no. 4, pp. E694-E699 . https://doi.org/10.1210/jc.2011-2938Test
J Clin Endocrinol Metab
Journal of Clinical Endocrinology and Metabolism, 97(4), E694-E699. The Endocrine Society

مصطلحات موضوعية: Male, Kallmann syndrome, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Hypopituitarism, medicine.disease_cause, Biochemistry, Receptors, G-Protein-Coupled, Mice, 0302 clinical medicine, Endocrinology, Pituitary Gland, Posterior, Septo-Optic Dysplasia, Neurons, Genetics, 0303 health sciences, Mutation, JCEM Online: Advances in Genetics, Female, Signal Transduction, Heterozygote, medicine.medical_specialty, Fibroblast Growth Factor 8, Receptors, Peptide, Recombinant Fusion Proteins, Mice, Transgenic, Nerve Tissue Proteins, 030209 endocrinology & metabolism, Context (language use), Biology, 03 medical and health sciences, Internal medicine, medicine, Animals, Humans, Receptor, Fibroblast Growth Factor, Type 1, Genetic Association Studies, 030304 developmental biology, Fibroblast growth factor receptor 1, Biochemistry (medical), Septo-optic dysplasia, Heterozygote advantage, Kallmann Syndrome, medicine.disease, United Kingdom, United States, stomatognathic diseases, Dysplasia

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b6f965967a1281972351ef3e82f5796Test
https://doi.org/10.1210/jc.2011-2938Test

المؤلفون: I-Hsuan Wu, Nelly Pitteloud, Ursula B. Kaiser, Risto Lapatto, Suzy D.C. Bianco, Jean-Pierre Chanoine, Lacey Plummer, Raphael Schiffmann, Susan Kirsch, Sarabeth Broder-Fingert, Hetty J. van der Kamp, Janet E. Hall, Richard Quinton, Tim Cheetham, Adelaide De Guillebon, Virginia A. Hughes, Le Min, Kathryn A. Martin, Stephanie B. Seminara, Andrew A. Dwyer, Svetlana Ten, Sophia Paraschos, Fazal Wahab, Felecia Cerrato, Shahla Nader, Metin Ozata, Yee-Ming Chan, Margaret G. Au

المصدر: The Journal of Clinical Endocrinology & Metabolism. 96:E1771-E1781

مصطلحات موضوعية: Adult, Male, Heterozygote, medicine.medical_specialty, Candidate gene, Genotype, Endocrinology, Diabetes and Metabolism, Kozak consensus sequence, In silico, Clinical Biochemistry, Gonadotropin-releasing hormone, Biology, Hot Topics in Translational Endocrinology, Biochemistry, Gonadotropin-Releasing Hormone, Mice, Endocrinology, Internal medicine, medicine, Animals, Humans, Coding region, Genetics, Kisspeptins, business.industry, Biochemistry (medical), Obstetrics and Gynecology, Heterozygote advantage, General Medicine, Phenotype, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f5df81a53f5e4cb41fba193332ba240Test
https://doi.org/10.1210/jc.2011-0518Test

المؤلفون: Nelly Pitteloud, William F. Crowley, Lacey Plummer, Frances J. Hayes, Andrew A. Dwyer

المصدر: The Journal of Clinical Endocrinology & Metabolism. 95:4235-4243

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Context (language use), Biochemistry, Follicle-stimulating hormone, Endocrinology, Hypogonadotropic hypogonadism, Internal medicine, Testis, medicine, Humans, Testosterone, Age of Onset, business.industry, Hypogonadism, Biochemistry (medical), Luteinizing Hormone, Middle Aged, medicine.disease, Pedigree, Gonadotropin secretion, Treatment Outcome, Disease Progression, Etiology, Original Article, Follicle Stimulating Hormone, Age of onset, business, Body mass index, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7ce8298000956d2146df44bf38b5cfeTest
https://doi.org/10.1210/jc.2010-0245Test