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Year Number of Results
2014 1
2018 1
2019 3
2020 9
2021 9
2022 3
2023 2
2024 0

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25 results

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Page 1
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Oppermann H, Marcos-Grañeda E, Weiss LA, Gurnett CA, Jelsig AM, Vineke SH, Isidor B, Mercier S, Magnussen K, Zacher P, Hashim M, Pagnamenta AT, Race S, Srivastava S, Frazier Z, Maiwald R, Pergande M, Milani D, Rinelli M, Levy J, Krey I, Fontana P, Lonardo F, Riley S, Kretzer J, Rankin J, Reis LM, Semina EV, Reuter MS, Scherer SW, Iascone M, Weis D, Fagerberg CR, Brasch-Andersen C, Hansen LK, Kuechler A, Noble N, Gardham A, Tenney J, Rathore G, Beck-Woedl S, Haack TB, Pavlidou DC, Atallah I, Vodopiutz J, Janecke AR, Hsieh TC, Lesmann H, Klinkhammer H, Krawitz PM, Lemke JR, Jamra RA, Nieto M, Tümer Z, Platzer K. Oppermann H, et al. Among authors: rinelli m. Eur J Hum Genet. 2023 Nov;31(11):1251-1260. doi: 10.1038/s41431-023-01445-2. Epub 2023 Aug 30. Eur J Hum Genet. 2023. PMID: 37644171 Free PMC article.
Cancer Predisposition Syndromes Associated With Pediatric High-Grade Gliomas.
Ceglie G, Del Baldo G, Agolini E, Rinelli M, Cacchione A, Del Bufalo F, Vinci M, Carta R, Boccuto L, Miele E, Mastronuzzi A, Locatelli F, Carai A. Ceglie G, et al. Among authors: rinelli m. Front Pediatr. 2020 Nov 12;8:561487. doi: 10.3389/fped.2020.561487. eCollection 2020. Front Pediatr. 2020. PMID: 33282797 Free PMC article. Review.
Cancer Predisposition Syndromes and Medulloblastoma in the Molecular Era.
Carta R, Del Baldo G, Miele E, Po A, Besharat ZM, Nazio F, Colafati GS, Piccirilli E, Agolini E, Rinelli M, Lodi M, Cacchione A, Carai A, Boccuto L, Ferretti E, Locatelli F, Mastronuzzi A. Carta R, et al. Among authors: rinelli m. Front Oncol. 2020 Oct 29;10:566822. doi: 10.3389/fonc.2020.566822. eCollection 2020. Front Oncol. 2020. PMID: 33194646 Free PMC article. Review.
Targeted therapy for pediatric diffuse intrinsic pontine glioma: a single-center experience.
Del Baldo G, Carai A, Abbas R, Cacchione A, Vinci M, Di Ruscio V, Colafati GS, Rossi S, Diomedi Camassei F, Maestro N, Temelso S, Pericoli G, De Billy E, Giovannoni I, Carboni A, Rinelli M, Agolini E, Mackay A, Jones C, Chiesa S, Balducci M, Locatelli F, Mastronuzzi A. Del Baldo G, et al. Among authors: rinelli m. Ther Adv Med Oncol. 2022 Sep 6;14:17588359221113693. doi: 10.1177/17588359221113693. eCollection 2022. Ther Adv Med Oncol. 2022. PMID: 36090803 Free PMC article.
Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management.
Del Baldo G, Carta R, Alessi I, Merli P, Agolini E, Rinelli M, Boccuto L, Milano GM, Serra A, Carai A, Locatelli F, Mastronuzzi A. Del Baldo G, et al. Among authors: rinelli m. Front Oncol. 2021 Feb 22;11:586288. doi: 10.3389/fonc.2021.586288. eCollection 2021. Front Oncol. 2021. PMID: 33692948 Free PMC article. Review.
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumić M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ. Amor DJ, et al. Among authors: rinelli m. Am J Hum Genet. 2019 May 2;104(5):914-924. doi: 10.1016/j.ajhg.2019.02.026. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982611 Free PMC article.
Novel clinical features associated with Clouston syndrome.
Cammarata-Scalisi F, Rinelli M, Pisaneschi E, Diociaiuti A, Willoughby CE, Avendaño A, Digilio MC, Novelli A, Callea M. Cammarata-Scalisi F, et al. Among authors: rinelli m. Int J Dermatol. 2019 Aug;58(8):e143-e146. doi: 10.1111/ijd.14507. Epub 2019 Jun 5. Int J Dermatol. 2019. PMID: 31165482 No abstract available.
Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant.
Paparella R, Caroleo AM, Agolini E, Chillemi G, Miele E, Pedace L, Rinelli M, Pizzi S, Boccuto L, Colafati GS, Lodi M, Cacchione A, Carai A, Digilio MC, Tomà P, Tartaglia M, Mastronuzzi A. Paparella R, et al. Among authors: rinelli m. Am J Med Genet A. 2022 Sep;188(9):2796-2802. doi: 10.1002/ajmg.a.62869. Epub 2022 Jun 11. Am J Med Genet A. 2022. PMID: 35689525 Free PMC article.
25 results