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Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations.
Dupont C, Grati FR, Choy KW, Jaillard S, Toutain J, Maurin ML, Martínez-Conejero JA, Beneteau C, Coussement A, Molina-Gomes D, Horelli-Kuitunen N, Aboura A, Tabet AC, Besseau-Ayasse J, Bessieres-Grattagliano B, Simoni G, Ayala G, Benzacken B, Vialard F. Dupont C, et al. Among authors: grati fr. Prenat Diagn. 2015 Jan;35(1):35-43. doi: 10.1002/pd.4478. Epub 2014 Sep 16. Prenat Diagn. 2015. PMID: 25118001
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.
QF-PCR as a substitute for karyotyping of cytotrophoblast for the analysis of chorionic villi: advantages and limitations from a cytogenetic retrospective audit of 44,727 first-trimester prenatal diagnoses.
Grati FR, Malvestiti F, Grimi B, Gaetani E, Di Meco AM, Trotta A, Liuti R, Chinetti S, Dulcetti F, Ruggeri AM, Agrati C, Frascoli G, Milani S, De Toffol S, Martinoni L, Paganini S, Marcato L, Maggi F, Simoni G. Grati FR, et al. Prenat Diagn. 2013 May;33(5):502-8. doi: 10.1002/pd.4099. Epub 2013 Apr 21. Prenat Diagn. 2013. PMID: 23606546
De novo small supernumerary marker chromosomes detected on 143,000 consecutive prenatal diagnoses: chromosomal distribution, frequencies, and characterization combining molecular cytogenetics approaches.
Malvestiti F, De Toffol S, Grimi B, Chinetti S, Marcato L, Agrati C, Di Meco AM, Frascoli G, Trotta A, Malvestiti B, Ruggeri A, Dulcetti F, Maggi F, Simoni G, Grati FR. Malvestiti F, et al. Among authors: grati fr. Prenat Diagn. 2014 May;34(5):460-8. doi: 10.1002/pd.4330. Epub 2014 Feb 11. Prenat Diagn. 2014. PMID: 24436202
Response to "QF-PCR as a substitute for karyotyping of cytotrophoblast for the analysis of chorionic villi: advantages and limitations from a cytogenetic retrospective audit of 44 727 first-trimester prenatal diagnoses".
Grati FR, Malvestiti F, Grimi B, Gaetani E, Di Meco AM, Trotta A, Liuti R, Chinetti S, Dulcetti F, Ruggeri AM, Agrati C, Frascoli G, Milani S, De Toffol S, Martinoni L, Paganini S, Marcato L, Maggi F, Simoni G. Grati FR, et al. Prenat Diagn. 2013 Nov;33(11):1117. doi: 10.1002/pd.4220. Prenat Diagn. 2013. PMID: 24590588 No abstract available.
86 results