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Page 1
High-Resolution Magic-Angle-Spinning NMR in Revealing Hepatoblastoma Hallmarks.
Tasic L, Avramović N, Jadranin M, Quintero M, Stanisic D, Martins LG, Costa TBBC, Novak E, Odone V, Rivas M, Aguiar T, Carraro DM, Werneck da Cunha I, Lima da Costa CM, Maschietto M, Krepischi A. Tasic L, et al. Among authors: krepischi a. Biomedicines. 2022 Dec 1;10(12):3091. doi: 10.3390/biomedicines10123091. Biomedicines. 2022. PMID: 36551847 Free PMC article.
Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.
Homma TK, Krepischi ACV, Furuya TK, Honjo RS, Malaquias AC, Bertola DR, Costa SS, Canton AP, Roela RA, Freire BL, Kim CA, Rosenberg C, Jorge AAL. Homma TK, et al. Among authors: krepischi acv. Horm Res Paediatr. 2018;89(1):13-21. doi: 10.1159/000481777. Epub 2017 Nov 9. Horm Res Paediatr. 2018. PMID: 29130988 Free article. Clinical Trial.
Molecular and clinical delineation of the 17q22 microdeletion phenotype.
Laurell T, Lundin J, Anderlid BM, Gorski JL, Grigelioniene G, Knight SJ, Krepischi AC, Nordenskjöld A, Price SM, Rosenberg C, Turnpenny PD, Vianna-Morgante AM, Nordgren A. Laurell T, et al. Among authors: krepischi ac. Eur J Hum Genet. 2013 Oct;21(10):1085-92. doi: 10.1038/ejhg.2012.306. Epub 2013 Jan 30. Eur J Hum Genet. 2013. PMID: 23361222 Free PMC article.
5q12.1 deletion: delineation of a phenotype including mental retardation and ocular defects.
Jaillard S, Andrieux J, Plessis G, Krepischi AC, Lucas J, David V, Le Brun M, Bertola DR, David A, Belaud-Rotureau MA, Mosser J, Lazaro L, Treguier C, Rosenberg C, Odent S, Dubourg C. Jaillard S, et al. Among authors: krepischi ac. Am J Med Genet A. 2011 Apr;155A(4):725-31. doi: 10.1002/ajmg.a.33758. Epub 2011 Mar 15. Am J Med Genet A. 2011. PMID: 21594994
Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.
Carvalho CM, Vasanth S, Shinawi M, Russell C, Ramocki MB, Brown CW, Graakjaer J, Skytte AB, Vianna-Morgante AM, Krepischi AC, Patel GS, Immken L, Aleck K, Lim C, Cheung SW, Rosenberg C, Katsanis N, Lupski JR. Carvalho CM, et al. Am J Hum Genet. 2014 Nov 6;95(5):565-78. doi: 10.1016/j.ajhg.2014.10.006. Epub 2014 Nov 6. Am J Hum Genet. 2014. PMID: 25439725 Free PMC article.
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.
Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, de Leeuw N, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi AC, Le Caignec C, Ogilvie CM, Maia S, Mathieu-Dramard M, Munnich A, Palumbo O, Papadia F, Pfundt R, Reardon W, Receveur A, Rio M, Ronsbro Darling L, Rosenberg C, Sá J, Vallee L, Vincent-Delorme C, Zelante L, Bondeson ML, Annerén G. Molin AM, et al. Among authors: krepischi ac. J Med Genet. 2012 Feb;49(2):104-9. doi: 10.1136/jmedgenet-2011-100534. Epub 2011 Dec 17. J Med Genet. 2012. PMID: 22180640 Free PMC article.
Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion.
Silva AG, Ewald IP, Sapienza M, Pinheiro M, Peixoto A, de Nóbrega AF, Carraro DM, Teixeira MR, Ashton-Prolla P, Achatz MI, Rosenberg C, Krepischi AC. Silva AG, et al. Among authors: krepischi ac. BMC Cancer. 2012 Jun 12;12:237. doi: 10.1186/1471-2407-12-237. BMC Cancer. 2012. PMID: 22691290 Free PMC article.
125 results