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Phenocopy in a patient with triple negative breast cancer: a case report.
Costa GHMD, Dias ES, Pegoraro NB, Kohler CN, Raskin S, Mikami LR. Costa GHMD, et al. Among authors: raskin s. Einstein (Sao Paulo). 2023 Nov 17;21:eRC0319. doi: 10.31744/einstein_journal/2023RC0319. eCollection 2023. Einstein (Sao Paulo). 2023. PMID: 37991089 Free PMC article.
Autism and duplication of 17q12q21.2 by array-CGH: a case report.
Weingartner A, Pegoraro NB, Maglioni RT, Moreira ICFN, Rodrigues GE, Kunz AC, Piai CB, Milano AS, Raskin S, Ferrari LP, Mikami LR. Weingartner A, et al. Among authors: raskin s. Rev Paul Pediatr. 2023 Jan 20;41:e2021387. doi: 10.1590/1984-0462/2023/41/2021387. eCollection 2023. Rev Paul Pediatr. 2023. PMID: 36700567 Free PMC article.
Multiple copy number variation in a patient with Kleefstra syndrome.
Lee TN, Rechetello HEL, Lima Júnior JBA, Cornelio JPFF, Pegoraro NB, Raskin S, Mikami LR. Lee TN, et al. Among authors: raskin s. Rev Paul Pediatr. 2023 Sep 15;42:e2022230. doi: 10.1590/1984-0462/2024/42/2022230. eCollection 2023. Rev Paul Pediatr. 2023. PMID: 37729241 Free PMC article.
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira… See abstract for full author list ➔ Redin C, et al. Among authors: raskin s. Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14. Nat Genet. 2017. PMID: 27841880 Free PMC article.
SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.
Schossig A, Bloch-Zupan A, Lussi A, Wolf NI, Raskin S, Cohen M, Giuliano F, Jurgens J, Krabichler B, Koolen DA, de Macena Sobreira NL, Maurer E, Muller-Bolla M, Penzien J, Zschocke J, Kapferer-Seebacher I. Schossig A, et al. Among authors: raskin s. J Med Genet. 2017 Jan;54(1):54-62. doi: 10.1136/jmedgenet-2016-103988. Epub 2016 Sep 6. J Med Genet. 2017. PMID: 27600704 Clinical Trial.
335 results