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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.
Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family.
Concolino P, De Paolis E, Moffa S, Onori ME, Soldovieri L, Ricciardi Tenore C, De Bonis M, Rabacchi C, Santonocito C, Rinelli M, Calandra S, Giaccari A, Urbani A, Minucci A. Concolino P, et al. Among authors: rinelli m. Genes (Basel). 2023 Jun 16;14(6):1275. doi: 10.3390/genes14061275. Genes (Basel). 2023. PMID: 37372455 Free PMC article.
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.
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.
Establishment and Characterization of a Cell Line (S-RMS1) Derived from an Infantile Spindle Cell Rhabdomyosarcoma with SRF-NCOA2 Fusion Transcript.
Colletti M, Galardi A, Miele E, Di Paolo V, Russo I, De Stefanis C, De Vito R, Rinelli M, Ciolfi A, De Angelis B, Zin A, Guffanti A, Digilio MC, Novelli A, Alaggio R, Milano GM, Di Giannatale A. Colletti M, et al. Among authors: rinelli m. Int J Mol Sci. 2021 May 22;22(11):5484. doi: 10.3390/ijms22115484. Int J Mol Sci. 2021. PMID: 34067464 Free PMC article.
Gastric cancer, inflammatory bowel disease and polyautoimmunity in a 17-year-old boy: CTLA-4 deficiency successfully treated with Abatacept.
Angelino G, Cifaldi C, Zangari P, Di Cesare S, Di Matteo G, Chiriaco M, Francalanci P, Faraci S, Rea F, Romeo EF, Amodio D, Ursu GM, Bertocchini A, Accinni A, Crocoli A, Inserra A, Cozza R, Romano C, Licciardello M, Rinelli M, Dall'Oglio L, Cancrini C, De Angelis P, Finocchi A. Angelino G, et al. Among authors: rinelli m. Eur J Gastroenterol Hepatol. 2021 Dec 1;33(1S Suppl 1):e1051-e1056. doi: 10.1097/MEG.0000000000002185. Eur J Gastroenterol Hepatol. 2021. PMID: 34034269
Molecular Characterization of Medulloblastoma in a Patient with Neurofibromatosis Type 1: Case Report and Literature Review.
Ranalli M, Boni A, Caroleo AM, Del Baldo G, Rinelli M, Agolini E, Rossi S, Miele E, Colafati GS, Boccuto L, Alessi I, De Ioris MA, Cacchione A, Capolino R, Carai A, Vennarini S, Mastronuzzi A. Ranalli M, et al. Among authors: rinelli m. Diagnostics (Basel). 2021 Apr 2;11(4):647. doi: 10.3390/diagnostics11040647. Diagnostics (Basel). 2021. PMID: 33918520 Free PMC article.
Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.
Agolini E, Botta E, Lodi M, Digilio MC, Rinelli M, Bellacchio E, Alesi V, Nardo T, Zambruno G, Orioli D, Alessi I, Boccuto L, Rossi S, Carai A, Colafati GS, Cacchione A, Dallapiccola B, Novelli A, Mastronuzzi A. Agolini E, et al. Among authors: rinelli m. Clin Genet. 2021 Jun;99(6):842-848. doi: 10.1111/cge.13957. Epub 2021 Apr 5. Clin Genet. 2021. PMID: 33733458
25 results