المؤلفون: Magrinelli, Francesca, Rocca, Clarissa, Simone, Roberto, Zenezini Chiozzi, Riccardo, Jaunmuktane, Zane, Mencacci, Niccolò E, Tinazzi, Michele, Jayawant, Sandeep, Nemeth, Andrea H, Demidov, German, Houlden, Henry, Bhatia, Kailash P

المساهمون: Magrinelli, Francesca, Rocca, Clarissa, Simone, Roberto, Zenezini Chiozzi, Riccardo, Jaunmuktane, Zane, Mencacci, Niccolò E, Tinazzi, Michele, Jayawant, Sandeep, Nemeth, Andrea H, Demidov, German, Houlden, Henry, Bhatia, Kailash P

مصطلحات موضوعية: brain-lung-thyroid syndrome, chorea, dystonia, mobile element insertion, thyroid transcription factor-1

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36420574; info:eu-repo/semantics/altIdentifier/wos/WOS:000889920000001; volume:38; issue:2; firstpage:347; lastpage:353; numberofpages:7; journal:MOVEMENT DISORDERS; info:eu-repo/grantAgreement/EC/H2020/779257; https://hdl.handle.net/11562/1086131Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85142663733; https://doi.org/10.1002/mds.29280Test

الإتاحة: https://doi.org/10.1002/mds.29280Test
https://hdl.handle.net/11562/1086131Test

المؤلفون: Thust, Steffi, Veneziano, Liana, Parkinson, Michael H, Bhatia, Kailash P, Mantuano, Elide, Gonzalez-Robles, Cristina, Davagnanam, Indran, Giunti, Paola

المصدر: Neurogenetics (2022) (In press).

مصطلحات موضوعية: Benign hereditary chorea · Brain-lung-thyroid syndrome · Pituitary gland · Pituitary cyst · NKX2.1

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10143260/1/Giunti_AlteredPituitaryMorphologyAsAS.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10143260Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10143260/1/Giunti_AlteredPituitaryMorphologyAsAS.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10143260Test/

المؤلفون: Xuyun Hu, Jun Liu, Ruolan Guo, Jun Guo, Zhipeng Zhao, Wei Li, Baoping Xu, Chanjuan Hao

المصدر: Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-6 (2019)

مصطلحات موضوعية: 14q13 deletion, CNV-seq, Brain-lung-thyroid syndrome, Immunodeficiency, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8166Test

الوصول الحر: https://doaj.org/article/32d1817aeede487790ef2ad71a7c340bTest

المؤلفون: O.L. Logvinova, M.A. Gonchar

المصدر: Zdorovʹe Rebenka, Vol 13, Iss 5, Pp 502-505 (2018)

مصطلحات موضوعية: children, newborns, NKX2-1, TTF-1, interstitial lung diseases, respiratory distress syndrome, brain-lung-thyroid syndrome, review, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: http://childshealth.zaslavsky.com.ua/article/view/141568Test; https://doaj.org/toc/2224-0551Test; https://doaj.org/toc/2307-1168Test

الوصول الحر: https://doaj.org/article/0af8d10aa455488a9333368542be5b15Test

المؤلفون: Francesca Magrinelli, Clarissa Rocca, Roberto Simone, Riccardo Zenezini Chiozzi, Zane Jaunmuktane, Niccolò E. Mencacci, Michele Tinazzi, Sandeep Jayawant, Andrea H. Nemeth, German Demidov, Henry Houlden, Kailash P. Bhatia

المصدر: Movement Disorders. 38:347-353

مصطلحات موضوعية: Neurology, mobile element insertion, chorea, thyroid transcription factor-1, dystonia, Neurology (clinical), brain-lung-thyroid syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5058942a7ab3f9e0f6450c7a492df8acTest
https://doi.org/10.1002/mds.29280Test

المؤلفون: Kazuya Itomi, Mahito Atobe, Motomasa Suzuki, Shinji Saitoh, Tatsushi Tanaka, Yasuko Kojima, Yuusuke Aoki, 小島 泰子, 田中 達之, 糸見 和也, 跡部 真人, 鈴木 基正, 青木 雄介, 齋藤 伸治

المصدر: 脳と発達 / NO TO HATTATSU. 2021, 53(1):44

المؤلفون: Péter Balicza, Zoltán Grosz, Viktor Molnár, Anett Illés, Dora Csabán, Andras Gézsi, Lívia Dézsi, Dénes Zádori, László Vécsei, Mária Judit Molnár

المصدر: Frontiers in Genetics, Vol 9 (2018)

مصطلحات موضوعية: NKX2-1 gene, NKX2-1 related disorders, benign hereditary chorea, brain-lung-thyroid syndrome, chorea, myoclonus dystonia, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fgene.2018.00335/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/29a8ef6e2ffb44f08eeeba06d530d232Test

المؤلفون: Steffi Thust, Liana Veneziano, Michael H. Parkinson, Kailash P. Bhatia, Elide Mantuano, Cristina Gonzalez-Robles, Indran Davagnanam, Paola Giunti

المصدر: Neurogenetics (Oxf., Print) 23 (2022): 91–102. doi:10.1007/s10048-021-00680-3
info:cnr-pdr/source/autori:Thust, Steffi; Veneziano, Liana; Parkinson, Michael H.; Bhatia, Kailash P.; Mantuano, Elide; Gonzalez-Robles, Cristina; Davagnanam, Indran; Giunti, Paola/titolo:Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1%2FNKX2.1 mutations/doi:10.1007%2Fs10048-021-00680-3/rivista:Neurogenetics (Oxf., Print)/anno:2022/pagina_da:91/pagina_a:102/intervallo_pagine:91–102/volume:23

مصطلحات موضوعية: Thyroid Nuclear Factor 1, Nuclear Proteins, Brain-lung-thyroid syndrome, Pituitary gland, Cellular and Molecular Neuroscience, Pituitary cyst, Chorea, NKX2, Mutation, Congenital Hypothyroidism, Genetics, Humans, Benign hereditary chorea, Genetics (clinical), Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c46eaf06bf0ee1c4795b27d23164fb1Test
https://doi.org/10.1007/s10048-021-00680-3Test

المؤلفون: O.L. Logvinova, M.A. Gonchar

المصدر: CHILD`S HEALTH. 13:502-505

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Brain-Lung-Thyroid Syndrome, medicine, Etiology, General Earth and Planetary Sciences, Gene mutation, business, General Environmental Science

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9dcceaa1a9f57c98a2e86dbc2273129eTest
https://doi.org/10.22141/2224-0551.13.5.2018.141568Test

المؤلفون: F. Invernizzi, G. Zorzi, A. Legati, G. Coppola, P. D'Adamo, N. Nardocci, B. Garavaglia, D. Ghezzi

المساهمون: F. Invernizzi, G. Zorzi, A. Legati, G. Coppola, P. D'Adamo, N. Nardocci, B. Garavaglia, D. Ghezzi

مصطلحات موضوعية: Benign hereditary chorea, Brain-lung-thyroid syndrome, MBIP, NKX2-1, Genetic, Genetics (clinical), Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29621620; info:eu-repo/semantics/altIdentifier/wos/WOS:000444004900002; volume:61; issue:10; firstpage:581; lastpage:584; numberofpages:4; journal:EUROPEAN JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/2434/585776Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85045114001

الإتاحة: https://doi.org/10.1016/j.ejmg.2018.03.011Test
http://hdl.handle.net/2434/585776Test