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Generation of IGGi003-A induced pluripotent stem cell line from a patient with Sotos Syndrome carrying c.1633delA NSD1 variant in exon 5.
Stem Cell Res. 2024 Apr;76:103324. doi: 10.1016/j.scr.2024.103324. Epub 2024 Jan 29.
Stem Cell Res. 2024.
PMID: 38301425
Free article.
Generation and characterization of induced pluripotent stem cells from a Parkinson's disease patient carrying the digenic LRRK2 p.G2019S and GBA1 p.N409S mutations.
Oleksy C, Massart F, Goldwurm S, Arado A, Arena G, Boussaad I, Krüger R.
Oleksy C, et al. Among authors: arado a.
Stem Cell Res. 2023 Oct;72:103212. doi: 10.1016/j.scr.2023.103212. Epub 2023 Sep 28.
Stem Cell Res. 2023.
PMID: 37832355
Free article.
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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz JM, Andersen CB, Kibæk M, Prijoles EJ, Stevenson RE, Everman DB, Patterson WG, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke PJ, Lopez Garcia MS, Perrier R, Sousa SB, Almeida PM, Simões MJ, Isidor B, Deb W, Schmanski AA, Abdul-Rahman O, Philippe C, Bruel AL, Faivre L, Vitobello A, Thauvin C, Smits JJ, Garavelli L, Caraffi SG, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann APA, Stumpel CTRM, Tiller GE, Bosch DGM, Potgieter ST, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti AG, Freitag CM, Satterstrom FK, De Rubeis S, Buxbaum J, Gelb BD, Branko A, Kushima I, Howe J, Scherer SW, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli FM, Haack TB, Dufke A, Bertrand M, Falb RJ, Rieß A, Krieg P, Spranger S, Bedeschi MF, Iascone M, Josephi-Taylor S, Roscioli T, Buckley MF, Liebelt J, Dagli AI, Aten E, Hurst ACE, Hicks A, Suri M, Aliu E, Naik S, Sidlow R, Coursimault J, Ni…
See abstract for full author list ➔
Rots D, et al. Among authors: arado a.
Am J Hum Genet. 2023 Jun 1;110(6):963-978. doi: 10.1016/j.ajhg.2023.04.008. Epub 2023 May 16.
Am J Hum Genet. 2023.
PMID: 37196654
Free PMC article.
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Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome.
Testa B, Conteduca G, Grasso M, Cecconi M, Lantieri F, Baldo C, Arado A, Andraghetti L, Malacarne M, Milani D, Coviello D, Sotos Collaborative Group.
Testa B, et al. Among authors: arado a.
Genes (Basel). 2023 Jan 22;14(2):295. doi: 10.3390/genes14020295.
Genes (Basel). 2023.
PMID: 36833222
Free PMC article.
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Generation of induced pluripotent stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion.
Conteduca G, Baldo C, Arado A, Traverso M, Testa B, Malacarne M, Coviello D, Zara F, Baldassari S.
Conteduca G, et al. Among authors: arado a.
Stem Cell Res. 2023 Feb;66:103007. doi: 10.1016/j.scr.2022.103007. Epub 2022 Dec 21.
Stem Cell Res. 2023.
PMID: 36580887
Free article.
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Identification of alternative transcripts of NSD1 gene in Sotos Syndrome patients and healthy subjects.
Conteduca G, Testa B, Baldo C, Arado A, Malacarne M, Candiano G, Garbarino A, Coviello DA, Cantoni C.
Conteduca G, et al. Among authors: arado a.
Gene. 2023 Jan 30;851:146970. doi: 10.1016/j.gene.2022.146970. Epub 2022 Oct 17.
Gene. 2023.
PMID: 36261088
Free article.
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NSD1 Mutations in Sotos Syndrome Induce Differential Expression of Long Noncoding RNAs, miR646 and Genes Controlling the G2/M Checkpoint.
Conteduca G, Cangelosi D, Coco S, Malacarne M, Baldo C, Arado A, Pinto R, Testa B, Coviello DA.
Conteduca G, et al. Among authors: arado a.
Life (Basel). 2022 Jul 2;12(7):988. doi: 10.3390/life12070988.
Life (Basel). 2022.
PMID: 35888078
Free PMC article.
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