نتائج البحث - "Nelly Pitteloud"

المساهمون: Messina, Andrea, Pulli, Kristiina, Santini, Sara, Acierno, Jame, Känsäkoski, Johanna, Cassatella, Daniele, Xu, Cheng, Casoni, Filippo, Malone, Samuel A., Ternier, Gaetan, Conte, Daniele, Sidis, Yisrael, Tommiska, Johanna, Vaaralahti, Kirsi, Dwyer, Andrew, Gothilf, Yoav, Merlo, Giorgio R., Santoni, Federico, Niederländer, Nicolas J., Giacobini, Paolo, Raivio, Taneli, Pitteloud, Nelly, STEMM - Stem Cells and Metabolism Research Program, Raivio Group, Research Programs Unit, Faculty of Medicine, University of Helsinki, Department of Physiology, University Management, Medicum, HUS Children and Adolescents, Children's Hospital

المصدر: Am J Hum Genet

مصطلحات موضوعية: 0301 basic medicine, Male, Kallmann syndrome, PROTEIN, Cohort Studies, Mice, 0302 clinical medicine, Neurotrophic factors, Cell Movement, Missense mutation, Genetics (clinical), Zebrafish, GnRH Neuron, Mice, Knockout, Neurons, 1184 Genetics, developmental biology, physiology, Pedigree, INSIGHTS, medicine.anatomical_structure, OLFACTORY SENSORY NEURONS, Female, Congenital Hypogonadotropic Hypogonadism, HORMONE NEURONS, Neural development, hormones, hormone substitutes, and hormone antagonists, medicine.medical_specialty, endocrine system, Heterozygote, Adolescent, MIGRATION, Biology, Article, 03 medical and health sciences, Internal medicine, KALLMANN-SYNDROME, Genetics, medicine, Animals, Humans, Nerve Growth Factors, MUTATIONS, Hypogonadism, medicine.disease, GENE, Olfactory bulb, DELETIONS, 030104 developmental biology, Endocrinology, CELLS, Mutation, Neuron, 3111 Biomedicine, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::389f39ff315ce6f9494670ffba8a9ff0Test

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Author response: Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism

مصطلحات موضوعية: GnRH Neuron, Hypogonadotropic hypogonadism, medicine, Biology, medicine.disease, Neuroscience, Function (biology)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2bb193614343efa9e81b90f6b7583906Test
https://doi.org/10.7554/elife.47198.024Test

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Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

المصدر: European Journal of Endocrinology
Cassatella, Daniele; Howard, Sasha R; Acierno, James S; Xu, Cheng; Papadakis, Georgios E; Santoni, Federico A; Dwyer, Andrew A; Santini, Sara; Sykiotis, Gerasimos P; Chambion, Caroline; Meylan, Jenny; Marino, Laura; Favre, Lucie; Li, Jiankang; Liu, Xuanzhu; Zhang, Jianguo; Bouloux, Pierre-Marc; Geyter, Christian De; Paepe, Anne De; Dhillo, Waljit S; ... (2018). Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures. European journal of endocrinology, 178(4), pp. 377-388. BioScientifica Ltd. 10.1530/EJE-17-0568 <http://dx.doi.org/10.1530/EJE-17-0568Test>
European journal of endocrinology, vol. 178, no. 4, pp. 377-388

مصطلحات موضوعية: 0301 basic medicine, Proband, Delayed puberty, Adult, Male, Pediatrics, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Early adolescence, 030209 endocrinology & metabolism, 610 Medicine & health, Biology, Delayed diagnosis, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Humans, In patient, Exome sequencing, Finland, Growth Disorders, Aged, Puberty, Delayed, Female, Finland/epidemiology, Growth Disorders/diagnosis, Growth Disorders/epidemiology, Growth Disorders/genetics, Hypogonadism/diagnosis, Hypogonadism/epidemiology, Hypogonadism/genetics, Middle Aged, Mutation/genetics, Puberty, Delayed/diagnosis, Puberty, Delayed/epidemiology, Puberty, Delayed/genetics, business.industry, Hypogonadism, General Medicine, 030104 developmental biology, Mutation, Clinical Study, Congenital Hypogonadotropic Hypogonadism, Differential diagnosis, medicine.symptom, business