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Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly.
Ginocchio VM, De Brasi D, Genesio R, Ciccone R, Gimelli S, Fimiani F, de Berardinis T, Nitsch L, Banfi S, Magli A, Della Casa R. Ginocchio VM, et al. Among authors: de berardinis t, de brasi d. Eur J Med Genet. 2008 Nov-Dec;51(6):658-65. doi: 10.1016/j.ejmg.2008.07.011. Epub 2008 Aug 13. Eur J Med Genet. 2008. PMID: 18762283
Case of Myhre syndrome with autism and peculiar skin histological findings.
Titomanlio L, Marzano MG, Rossi E, D'Armiento M, De Brasi D, Vega GR, Andreucci MV, Orsini AV, Santoro L, Sebastio G. Titomanlio L, et al. Among authors: de brasi d, d armiento m. Am J Med Genet. 2001 Oct 1;103(2):163-5. doi: 10.1002/ajmg.1517. Am J Med Genet. 2001. PMID: 11568925
Unbalanced translocation (3;5)(q26.1;p14): a clinical report.
Rossi M, Di Micco P, Perone L, De Brasi D, Guzzetta V, Andreucci MV, Vega GR, Marzano MG, Iaccarino E, Andria G. Rossi M, et al. Among authors: de brasi d. Am J Med Genet. 2002 Jul 15;110(4):353-8. doi: 10.1002/ajmg.10440. Am J Med Genet. 2002. PMID: 12116209 Review.
Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation.
Genesio R, Mormile A, Licenziati MR, De Brasi D, Leone G, Balzano S, Izzo A, Bonfiglio F, Conti A, Fioretti G, Lenta S, Poggiano MR, Siani P, Nitsch L. Genesio R, et al. Among authors: de brasi d. Mol Cytogenet. 2015 Jul 15;8:50. doi: 10.1186/s13039-015-0154-3. eCollection 2015. Mol Cytogenet. 2015. PMID: 26175800 Free PMC article.
70 results