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Three cases with de novo 6q imbalance and variable prenatal phenotype.
Grati FR, Lalatta F, Turolla L, Cavallari U, Gentilin B, Rossella F, Cetin I, Antonazzo P, Bellotti M, Dulcetti F, Baldo D, Tenconi R, Simoni G, Miozzo M. Grati FR, et al. Am J Med Genet A. 2005 Jul 30;136(3):254-8. doi: 10.1002/ajmg.a.30837. Am J Med Genet A. 2005. PMID: 15957159
Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome.
Grati FR, Turolla L, D'Ajello P, Ruggeri A, Miozzo M, Bracalente G, Baldo D, Laurino L, Boldorini R, Frate E, Surico N, Larizza L, Maggi F, Simoni G. Grati FR, et al. J Med Genet. 2007 Apr;44(4):257-63. doi: 10.1136/jmg.2006.046854. Epub 2007 Jan 26. J Med Genet. 2007. PMID: 17259293 Free PMC article.
Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1).
Grati FR, Lesperance MM, De Toffol S, Chinetti S, Selicorni A, Emery S, Grimi B, Dulcetti F, Malvestiti B, Taylor J, Milani S, Ruggeri AM, Maggi F, Simoni G. Grati FR, et al. Am J Med Genet A. 2009 May;149A(5):906-13. doi: 10.1002/ajmg.a.32754. Am J Med Genet A. 2009. PMID: 19353688 Free article.
Chromosome abnormalities investigated by non-invasive prenatal testing account for approximately 50% of fetal unbalances associated with relevant clinical phenotypes.
Grati FR, Barlocco A, Grimi B, Milani S, Frascoli G, Di Meco AM, Liuti R, Trotta A, Chinetti S, Dulcetti F, Ruggeri AM, De Toffol S, Clementi M, Maggi F, Simoni G. Grati FR, et al. Am J Med Genet A. 2010 Jun;152A(6):1434-42. doi: 10.1002/ajmg.a.33370. Am J Med Genet A. 2010. PMID: 20503318
85 results