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Single-nucleotide polymorphism array-based characterization of ring chromosome 18.
Spreiz A, Guilherme RS, Castellan C, Green A, Rittinger O, Wellek B, Utermann B, Erdel M, Fauth C, Haberlandt E, Kim CA, Kulikowski LD, Meloni VA, Utermann G, Zschocke J, Melaragno MI, Kotzot D. Spreiz A, et al. Among authors: kulikowski ld. J Pediatr. 2013 Oct;163(4):1174-8.e3. doi: 10.1016/j.jpeds.2013.06.005. Epub 2013 Jul 19. J Pediatr. 2013. PMID: 23876976
Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines.
Gasparini Y, Montenegro MM, Novo-Filho GM, Ceroni JRM, Honjo RS, Zanardo ÉA, Dias AT, Nascimento AM, Costa TVMM, Madia FA, Chehimi SN, Damasceno JG, Kim CA, Kulikowski LD. Gasparini Y, et al. Among authors: kulikowski ld. Cytogenet Genome Res. 2019;157(3):153-157. doi: 10.1159/000498836. Epub 2019 Apr 2. Cytogenet Genome Res. 2019. PMID: 30933946
Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.
Moysés-Oliveira M, Giannuzzi G, Fish RJ, Rosenfeld JA, Petit F, Soares MF, Kulikowski LD, Di-Battista A, Zamariolli M, Xia F, Liehr T, Kosyakova N, Carvalheira G, Parker M, Seaby EG, Ennis S, Gilbert RD, Hagelstrom RT, Cremona ML, Li WL, Malhotra A, Chandrasekhar A, Perry DL, Taft RJ, McCarrier J, Basel DG, Andrieux J, Stumpp T, Antunes F, Pereira GJ, Neerman-Arbez M, Meloni VA, Drummond-Borg M, Melaragno MI, Reymond A. Moysés-Oliveira M, et al. Among authors: kulikowski ld. Hum Mutat. 2018 Feb;39(2):281-291. doi: 10.1002/humu.23373. Epub 2017 Dec 14. Hum Mutat. 2018. PMID: 29193635
The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil.
Castro LP, Sahbatou M, Kehdy FSG, Farias AA, Yurchenko AA, de Souza TA, Rosa RCA, Mendes-Junior CT, Borda V, Munford V, Zanardo ÉA, Chehimi SN, Kulikowski LD, Aquino MM, Leal TP, Tarazona-Santos E, Chaibub SC, Gener B, Calmels N, Laugel V, Sarasin A, Menck CFM. Castro LP, et al. Among authors: kulikowski ld. Mutat Res Genet Toxicol Environ Mutagen. 2020 Apr;852:503164. doi: 10.1016/j.mrgentox.2020.503164. Epub 2020 Feb 29. Mutat Res Genet Toxicol Environ Mutagen. 2020. PMID: 32265042 Free article.
Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum.
Nogueira SI, Hacker AM, Bellucco FT, Christofolini DM, Kulikowski LD, Cernach MC, Emanuel BS, Melaragno MI. Nogueira SI, et al. Among authors: kulikowski ld. Eur J Med Genet. 2008 May-Jun;51(3):226-30. doi: 10.1016/j.ejmg.2008.02.001. Epub 2008 Feb 8. Eur J Med Genet. 2008. PMID: 18342595 Free PMC article.
97 results