المؤلفون: Manuela Morleo, Nunziana Pezzella, Brunella Franco

المساهمون: Morleo, Manuela, Pezzella, Nunziana, Franco, Brunella

المصدر: Trends in molecular medicine.

مصطلحات موضوعية: protein synthesis, cilia, gene expression, protein degradation, Molecular Medicine, OFD1, Molecular Biology, Ciliopathie

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::076d2495004813f182d23b7a0023b190
https://pubmed.ncbi.nlm.nih.gov/36494254

المؤلفون: Mathieu, Hélène

المساهمون: Moldovan, Hélène

مصطلحات موضوعية: Primary cilia, Scoliosis, Glutamylation, Ciliopathy, Scoliose, TTLL11, Cil primaire, POC5, Ciliopathie

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______317::14d3f40cebd298365db5bd18b85e64a0
https://hdl.handle.net/1866/26920

المؤلفون: Neha Gupta, Mariavittoria D'Acierno, Enrica Zona, Giovambattista Capasso, Miriam Zacchia

المساهمون: Gupta, N., D'Acierno, M., Zona, E., Capasso, G., Zacchia, M.

المصدر: American journal of medical genetics. Part C, Seminars in medical genetics. 190(1)

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Bardet–Biedl syndrome, BBS6/MKKS, Chaperonins, BBS10, Group II Chaperonins, macromolecular substances, chaperonopathies, BBS12 and ciliopathie, chaperonin-like protein, Mutation, Genetics, Humans, Bardet-Biedl Syndrome, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8217387ac2e863d338f5a4118ce05340
https://pubmed.ncbi.nlm.nih.gov/35373910

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المؤلفون: Cervesato, A., Raucci, R., Buononato, D., Emanuela Marchese, Capolongo, G., Perna, A., Capasso, G., Zacchia, M.

المساهمون: Cervesato, A., Raucci, R., Buononato, D., Marchese, E., Capolongo, G., Perna, A., Capasso, G., Zacchia, M.

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Fabry disease, ciliopathie, inherited kidney disorder, tubulopathies, proteomic, metabolomic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a30b5123ac9c4ce57915abc37193ae1d
http://hdl.handle.net/11591/441740

المؤلفون: Margherita Ruoppolo, Miriam Zacchia, Emanuela Marchese, Giovambattista Capasso, Alessandra F. Perna

المساهمون: Marchese, E., Ruoppolo, M., Perna, A., Capasso, G., Zacchia, M., Marchese, E, Ruoppolo, M, Perna, A, Capasso, G

المصدر: Kidney International Reports
Kidney International Reports, Vol 5, Iss 9, Pp 1403-1415 (2020)

مصطلحات موضوعية: BBS2, BBS1, ciliopathie, kidney disease, 030232 urology & nephrology, BBS10, Kidney development, Review, 030204 cardiovascular system & hematology, Bioinformatics, lcsh:RC870-923, 03 medical and health sciences, 0302 clinical medicine, Bardet–Biedl syndrome, medicine, genetics, business.industry, medicine.disease, lcsh:Diseases of the genitourinary system. Urology, Penetrance, Ciliopathy, Nephrology, ciliopathies, genetic, physiopathology, business, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86e1e4cc51fbf5fcff217687516288d8
http://hdl.handle.net/11591/458955

المؤلفون: Margherita Ruoppolo, Giovambattista Capasso, Miriam Zacchia, Marianna Caterino, Emanuela Marchese, Elena Martina Trani, Alessandra F. Perna, Giovanna Capolongo

المساهمون: Zacchia, Miriam, Marchese, Emanuela, Martina Trani, Elena, Caterino, Marianna, Capolongo, Giovanna, Perna, Alessandra, Ruoppolo, Margherita, Capasso, Giovambattista, Zacchia, M., Marchese, E., Trani, E. M., Caterino, M., Capolongo, G., Perna, A., Ruoppolo, M., Capasso, G.

مصطلحات موضوعية: 0301 basic medicine, Proteome, 030232 urology & nephrology, Autosomal dominant polycystic kidney disease, Metabolomic, Disease, Bioinformatics, Proteomics, Kidney, Ciliopathies, Ciliopathie, 03 medical and health sciences, proteomics, 0302 clinical medicine, Metabolomics, renal disease, ciliopathies, metabolomics, primary cilium, prote- omics,renaldisease, medicine, Animals, Humans, Transplantation, business.industry, Cilium, Proteomic, medicine.disease, Polycystic Kidney, Autosomal Dominant, metabolomics, 030104 developmental biology, medicine.anatomical_structure, Nephrology, Metabolome, business, primary cilium, Kidney disease, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c948bd3b46cadb20d4b911a062498cb9
http://hdl.handle.net/11588/755627

المؤلفون: Andreu Cervera, Abraham

المساهمون: Laboratoire de Biologie du Développement [Paris] (LBD), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université, Sylvie Schneider-Maunoury

المصدر: Biochemistry [q-bio.BM]. Sorbonne Université, 2018. English. ⟨NNT : 2018SORUS223⟩

مصطلحات موضوعية: Ciliopathy, Hypothalamus, Cils primaires, Ciliopathie, Primary cilia, Diencéphale, [SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB], Morphogenesis, Forebrain, Morphogénèse, Cerveau antérieur, Diencephalon, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], Holoprosencéphale, Hedgehog, Gli

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______212::7d1733a1217c5fc0666fd3c69080ffca
https://tel.archives-ouvertes.fr/tel-02483157v2/document

المؤلفون: Andreu Cervera, Abraham

المساهمون: Laboratoire de Biologie du Développement [Paris] (LBD), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université, Sylvie Schneider-Maunoury

المصدر: Biochemistry [q-bio.BM]. Sorbonne Université, 2018. English. ⟨NNT : 2018SORUS223⟩

مصطلحات موضوعية: Ciliopathy, Hypothalamus, Cils primaires, Ciliopathie, Primary cilia, Diencéphale, [SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB], Morphogenesis, Forebrain, Morphogénèse, Cerveau antérieur, Diencephalon, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], Holoprosencéphale, Hedgehog, Gli

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2592::7d1733a1217c5fc0666fd3c69080ffca
https://tel.archives-ouvertes.fr/tel-02483157v2/document

المؤلفون: Kempeneers, Céline, Chilvers, Mark A.

المصدر: Pediatric Pulmonology, 53 (8), 1122-1129 (2018-08-25)

مصطلحات موضوعية: cilia, ciliopathie, motile cilia, non-motile cilia, primary ciliary dyskinesia, respiratory cilia, Human health sciences, Cardiovascular & respiratory systems, Pediatrics, Sciences de la santé humaine, Systèmes cardiovasculaire & respiratoire, Pédiatrie

Relation: urn:issn:8755-6863; urn:issn:1099-0496

URL الوصول: https://orbi.uliege.be/handle/2268/230544