نتائج البحث - "Segni, Maria"

1

Disorders of the Thyroid Gland in Infancy, Childhood and Adolescence

المؤلفون: Segni, Maria

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______3686::906ee3c44439e1a9b1bb9ab03aed99bbTest
http://hdl.handle.net/11573/957975Test

2

Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism

المؤلفون: Elli, Francesca Marta, Bordogna, Paolo, De Sanctis, Luisa, Giachero, Federica, Verrua, Elisa, Segni, Maria, Mazzanti, Laura, Boldrin, Valentina, Toromanovic, Alma, Spada, Anna, Mantovani, Giovanna

المساهمون: Elli, Francesca Marta, Bordogna, Paolo, De Sanctis, Luisa, Giachero, Federica, Verrua, Elisa, Segni, Maria, Mazzanti, Laura, Boldrin, Valentina, Toromanovic, Alma, Spada, Anna, Mantovani, Giovanna

المصدر: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 31(6)

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::870c35f26194fce3f3148110f29fbb61Test
https://pubmed.ncbi.nlm.nih.gov/26763073Test

3

Truncation of POC1A associated with short stature and extreme insulin resistance

المؤلفون: Chen, Jian-Hua, Segni, Maria, Payne, Felicity, Huang-Doran, Isabel, Sleigh, Alison, Adams, Claire, UK10K Consortium, Savage, David B, O'Rahilly, Stephen, Semple, Robert K, Barroso, Inês

المساهمون: Huang-Doran, Isabel [0000-0002-0573-6557], Adams, Claire [0000-0002-4445-4747], Savage, David [0000-0002-7857-7032], O'Rahilly, Stephen [0000-0003-2199-4449], Semple, Robert [0000-0001-6539-3069], Barroso, Ines [0000-0001-5800-4520], Apollo - University of Cambridge Repository

مصطلحات موضوعية: Adult, dyslipidaemia, Molecular Sequence Data, Mitosis, Cell Cycle Proteins, Dwarfism, Spindle Apparatus, skeletal dysplasia, POC1A, insulin resistance, centriole, Humans, Protein Isoforms, Amino Acid Sequence, Frameshift Mutation, Centrioles, Centrosome, diabetes, Cell Cycle, Facies, Proteins, Body Height, short stature, Fatty Liver, Cytoskeletal Proteins, Female, Sequence Alignment, primary cilium

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______109::0d6ec0fc8cc303057a06b023a1f54533Test
https://www.repository.cam.ac.uk/handle/1810/250316Test

4

Truncation of POC1A associated with short stature and extreme insulin resistance

المصدر: Chen, J H, Segni, M, Payne, F, Huang-Doran, I, Sleigh, A, Adams, C, Durbin, R, Muddyman, D, Soranzo, N, Timpson, N, Spector, T, Richards, B, Palotie, A, Owen, M, Barrett, J, Geschwind, D, Hurles, M, Fitzpatrick, D, Barroso, I, Farooqi, S, Zeggini, E, Kaye, J, Kennedy, K, McCarthy, S, Stalker, J, Langford, C, Keane, T, Savage, D B, O’Rahilly, S & Semple, R K 2015, ' Truncation of POC1A associated with short stature and extreme insulin resistance ', Journal of Molecular Endocrinology, vol. 55, no. 2, pp. 147-158 . https://doi.org/10.1530/JME-15-0090Test

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5372ee0fa257b487c0ac64b6506b693cTest
https://pubmed.ncbi.nlm.nih.gov/26336158Test

5

GERMLINE PROKINETICIN RECEPTOR 2 (PROKR2) VARIANTS ASSOCIATED WITH CENTRAL HYPOGONADISM CAUSE DIFFERENTAL MODULATION OF DISTINCT INTRACELLULAR PATHWAYS

المؤلفون: Domenico Vladimiro Libri, Gunnar, Kleinau, Valeria, Vezzoli, Marta, Busnelli, Fabiana, Guizzardi, Antonio Agostino Sinisi, Angela Ida Pincelli, Antonio, Mancini, Gianni, Russo, Paolo Beck Peccoz, Sandro, Loche, Claudio, Crivellaro, Maghnie, Mohamad, Csilla, Krausz, Luca, Persani, Marco, Bonomi, Aimaretti, G., Altobelli, M., Arnaldi, G., Baldi, M., Bartalena, L., Beccaria, L., Bellastella, G., Bellizzi, M., Bona, G., Borretta, G., Buzi, F., Cannavo, S., Cappa, M., Cariboni, A., Ciampani, T., Cicognani, A., Cisternino, M., Corbetta, S., Corciulo, N., Corona, G., Cozzi, R., D'Elia, A. V., Degli Uberti, E., De Marchi, M., Forti, G., Di Iorgi, N., Isidori, Andrea, Fabbri, A., Ferlin, A., Foresta, C., Franceschi, R., Garolla, A., Gaudino, R., Giagulli, V., Grosso, E., Jannini, E., Lanfranco, F., Larizza, L., Lenzi, A., Lombardo, Francesco, Limone, P., Maggi, M., Maggi, R., Maggio, M. C., Mandrile, G., Marino, M., Mencarelli, M. A., Migone, N., Neri, G., Perroni, L., Pignatti, E., Pilotta, A., Pizzocaro, A., Pontecorvi, A., Pozzobon, G., Prodam, F., Radetti, G., Razzore, P., Salerno, M. C., Salvatoni, A., Salvini, F., Secco, A., Segni, Maria, Simoni, M., Vigneri, R., Weber, G.

المساهمون: Libri, Dv, Kleinau, G, Vezzoli, V, Busnelli, M, Guizzardi, F, Sinisi, Antonio Agostino, Pincelli, Ai, Mancini, A, Russo, G, Beck Peccoz, P, Loche, S, Crivellaro, C, Maghnie, M, Krausz, C, Persani, L, Bonomi, M., Libri DV, Kleinau G, Vezzoli V, Busnelli M, Guizzardi F, Sinisi AA, Pincelli AI, Mancini A, Russo G, Beck-Peccoz P, Loche S, Crivellaro C, Maghnie M, Krausz C, Persani L, Bonomi M, Maggio MC, et al, Libri, Domenico Vladimiro, Kleinau, Gunnar, Vezzoli, Valeria, Busnelli, Marta, Guizzardi, Fabiana, Pincelli, Angela Ida, Mancini, Antonio, Russo, Gianni, Beck Peccoz, Paolo, Loche, Sandro, Crivellaro, Claudio, Maghnie, Mohamad, Krausz, Csilla, Persani, Luca, Bonomi, Marco, Salerno, Mariacarolina

مصطلحات موضوعية: Male, Kallmann syndrome, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Inositol Phosphate, medicine.disease_cause, Biochemistry, Hypogonadotropic hypogonadism, Germline, Receptors, G-Protein-Coupled, Cohort Studies, Endocrinology, Settore MED/38 - Pediatria Generale E Specialistica, Adolescent, Adult, Child, Cyclic AMP, Female, Genetic Association Studies, Humans, Hypogonadism, Inositol Phosphates, Middle Aged, Mutation, Missense, Receptors, Peptide, Signal Transduction, Young Adult, Germ-Line Mutation, Receptors, mutations, septo-optic dysplasia, Missense mutation, Receptor, Mutation, Prokineticin, Peptide, Human, medicine.medical_specialty, Adolescent, Adult, Child, Cohort Studies, Cyclic AMP, metabolism, Female, Genetic Association Studies, Germ-Line Mutation, Humans, Hypogonadism, epidemiology/genetics, Inositol Phosphates, metabolism, Male, Middle Aged, Missense, Receptors, G-Protein-Coupled, genetics, Receptors, genetics, Signal Transduction, genetics, Young Adult, Genetic Association Studie, Biology, Germline mutation, Internal medicine, medicine, Biochemistry (medical), Prokineticin receptor 2, medicine.disease, PROKR2, hypogonadism, prokineticin, Missense, Cohort Studie