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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2016 | 1 |
2018 | 1 |
2019 | 1 |
2020 | 2 |
2022 | 1 |
2023 | 2 |
2024 | 1 |
Search Results
7 results
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A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Genet Med. 2022 Oct;24(10):2194-2203. doi: 10.1016/j.gim.2022.07.013. Epub 2022 Aug 24.
Genet Med. 2022.
PMID: 36001086
Free PMC article.
Genetic analysis of genes associated with Mendelian dementia.
Dautaj A, Mandarà L, Tassi V, Dhuli K, Bertelli M.
Dautaj A, et al. Among authors: mandara l.
Acta Biomed. 2020 Nov 9;91(13-S):e2020004. doi: 10.23750/abm.v91i13-S.10602.
Acta Biomed. 2020.
PMID: 33170157
Free PMC article.
Review.
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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H.
Salpietro V, et al.
Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20.
Am J Hum Genet. 2024.
PMID: 38118446
Free PMC article.
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Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development.
Iacomino M, Baldassari S, Tochigi Y, Kośla K, Buffelli F, Torella A, Severino M, Paladini D, Mandarà L, Riva A, Scala M, Balagura G, Accogli A, Nigro V, Minetti C, Fulcheri E, Zara F, Bednarek AK, Striano P, Suzuki H, Salpietro V.
Iacomino M, et al. Among authors: mandara l.
Front Neurosci. 2020 Jun 11;14:644. doi: 10.3389/fnins.2020.00644. eCollection 2020.
Front Neurosci. 2020.
PMID: 32581702
Free PMC article.
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NGS study in a sicilian case series with a genetic diagnosis for Gerstmann-Sträussler-Scheinker syndrome (PRNP, p.P102L).
Salemi M, Mandarà LGM, Salluzzo MG, Schillaci FA, Castiglione R, Cordella A, Iorio R, Perrotta CS, Ferri R, Romano C.
Salemi M, et al. Among authors: mandara lgm.
Mol Biol Rep. 2023 Nov;50(11):9715-9720. doi: 10.1007/s11033-023-08764-z. Epub 2023 Oct 9.
Mol Biol Rep. 2023.
PMID: 37812352
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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Pizzo L, Jensen M, Polyak A, Rosenfeld JA, Mannik K, Krishnan A, McCready E, Pichon O, Le Caignec C, Van Dijck A, Pope K, Voorhoeve E, Yoon J, Stankiewicz P, Cheung SW, Pazuchanics D, Huber E, Kumar V, Kember RL, Mari F, Curró A, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà L, Vincent M, Nizon M, Mercier S, Bénéteau C, Blesson S, Martin-Coignard D, Mosca-Boidron AL, Caberg JH, Bucan M, Zeesman S, Nowaczyk MJM, Lefebvre M, Faivre L, Callier P, Skinner C, Keren B, Perrine C, Prontera P, Marle N, Renieri A, Reymond A, Kooy RF, Isidor B, Schwartz C, Romano C, Sistermans E, Amor DJ, Andrieux J, Girirajan S.
Pizzo L, et al. Among authors: mandara l.
Genet Med. 2019 Apr;21(4):816-825. doi: 10.1038/s41436-018-0266-3. Epub 2018 Sep 7.
Genet Med. 2019.
PMID: 30190612
Free PMC article.
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JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects.
de Filippis T, Marelli F, Nebbia G, Porazzi P, Corbetta S, Fugazzola L, Gastaldi R, Vigone MC, Biffanti R, Frizziero D, Mandarà L, Prontera P, Salerno M, Maghnie M, Tiso N, Radetti G, Weber G, Persani L.
de Filippis T, et al. Among authors: mandara l.
J Clin Endocrinol Metab. 2016 Mar;101(3):861-70. doi: 10.1210/jc.2015-3403. Epub 2016 Jan 13.
J Clin Endocrinol Metab. 2016.
PMID: 26760175
Free article.
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