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Mesomelic dwarfism, skeletal abnormalities, and ectodermal dysplasia.
Brunoni D. Brunoni D. J Clin Dysmorphol. 1984 Spring;2(1):14-8. J Clin Dysmorphol. 1984. PMID: 6587010 No abstract available.
Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion.
Migliavacca MP, Sobreira NL, Antonialli GP, Oliveira MM, Melaragno MI, Casteels I, de Ravel T, Brunoni D, Valle D, Perez AB. Migliavacca MP, et al. Am J Med Genet A. 2014 May;164A(5):1170-4. doi: 10.1002/ajmg.a.36425. Epub 2014 Jan 29. Am J Med Genet A. 2014. PMID: 24478002 Free PMC article.
Complex toe syndactyly with characteristic facial phenotype: a new syndrome?
Sobreira NL, Cernach MC, Brunoni D, Perez AB. Sobreira NL, et al. Am J Med Genet A. 2008 Jul 1;146A(13):1725-8. doi: 10.1002/ajmg.a.32377. Am J Med Genet A. 2008. PMID: 18512233
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome.
Mazzeu JF, Pardono E, Vianna-Morgante AM, Richieri-Costa A, Ae Kim C, Brunoni D, Martelli L, de Andrade CE, Colin G, Otto PA. Mazzeu JF, et al. Am J Med Genet A. 2007 Feb 15;143(4):320-5. doi: 10.1002/ajmg.a.31592. Am J Med Genet A. 2007. PMID: 17256787
Blomstrand chondrodysplasia: a lethal sclerosing skeletal dysplasia. Case report and review.
Galera MF, de Silva Patrício FR, Lederman HM, Porciúncula CG, Lopes Monlleo I, Brunoni D. Galera MF, et al. Pediatr Radiol. 1999 Nov;29(11):842-5. doi: 10.1007/s002470050709. Pediatr Radiol. 1999. PMID: 10552065 Review.
CFC index for the diagnosis of cardiofaciocutaneous syndrome.
Kavamura MI, Peres CA, Alchorne MM, Brunoni D. Kavamura MI, et al. Am J Med Genet. 2002 Sep 15;112(1):12-6. doi: 10.1002/ajmg.10681. Am J Med Genet. 2002. PMID: 12239713 Review.
Terminal deletion 1q43 in a newborn with hydrocephalus.
Ribeiro MC, Brunoni D. Ribeiro MC, et al. Ann Genet. 1987;30(2):126-8. Ann Genet. 1987. PMID: 3499845
Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype.
Meloni Vde F, Piazzon FB, Soares Mde F, Takeno SS, Christofolini DM, Kulikowski LD, Brunoni D, Melaragno MI. Meloni Vde F, et al. Gene. 2012 Mar 15;496(1):59-62. doi: 10.1016/j.gene.2012.01.007. Epub 2012 Jan 20. Gene. 2012. PMID: 22285927
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