Genesio R - Search Results

1

Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype.

Genesio R, Melis D, Gatto S, Izzo A, Ronga V, Cappuccio G, Lanzo A, Andria G, D'Esposito M, Matarazzo MR, Conti A, Nitsch L. Genesio R, et al. Epigenetics. 2011 Oct 1;6(10):1242-7. doi: 10.4161/epi.6.10.17698. Epub 2011 Oct 1. Epigenetics. 2011. PMID: 21931280 Free article.

2

40 Mb duplication in chromosome band 5p13.1p15.33 with 800 kb terminal deletion in a foetus with mild phenotypic features.

Izzo A, Genesio R, Ronga V, Nocera V, Marullo L, Cicatiello R, Sglavo G, Paladini D, Conti A, Nitsch L. Izzo A, et al. Among authors: genesio r. Eur J Med Genet. 2012 Feb;55(2):140-4. doi: 10.1016/j.ejmg.2011.12.004. Epub 2012 Jan 2. Eur J Med Genet. 2012. PMID: 22269966

3

Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22.

Melis D, Genesio R, Cappuccio G, MariaGinocchio V, Casa RD, Menna G, Buffardi S, Poggi V, Leszle A, Imperati F, Carella M, Izzo A, Del Giudice E, Nitsch L, Andria G. Melis D, et al. Among authors: genesio r. Am J Med Genet A. 2011 Jul;155A(7):1697-705. doi: 10.1002/ajmg.a.33976. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671372

4

Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ring.

Melis D, Genesio R, Del Giudice E, Taurisano R, Mormile A, D'Elia F, Conti A, Imperati F, Andria G, Nitsch L. Melis D, et al. Among authors: genesio r. Clin Dysmorphol. 2012 Jan;21(1):27-32. doi: 10.1097/MCD.0b013e328348d860. Clin Dysmorphol. 2012. PMID: 21959859

5

Clinical description of a patient carrying the smallest reported deletion involving 10p14 region.

Melis D, Genesio R, Boemio P, Del Giudice E, Cappuccio G, Mormile A, Ronga V, Conti A, Imperati F, Nitsch L, Andria G. Melis D, et al. Among authors: genesio r. Am J Med Genet A. 2012 Apr;158A(4):832-5. doi: 10.1002/ajmg.a.34133. Epub 2012 Mar 9. Am J Med Genet A. 2012. PMID: 22407589

6

Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review.

Cappuccio G, Genesio R, Ronga V, Casertano A, Izzo A, Riccio MP, Bravaccio C, Salerno MC, Nitsch L, Andria G, Melis D. Cappuccio G, et al. Among authors: genesio r. Am J Med Genet A. 2014 Mar;164A(3):753-9. doi: 10.1002/ajmg.a.36326. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357330 Review.

7

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. Mol Cytogenet. 2015 Jul 15;8:50. doi: 10.1186/s13039-015-0154-3. eCollection 2015. Mol Cytogenet. 2015. PMID: 26175800 Free PMC article.

8

Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene.

Fontana P, Genesio R, Casertano A, Cappuccio G, Mormile A, Nitsch L, Iolascon A, Andria G, Melis D. Fontana P, et al. Among authors: genesio r. Gene. 2014 Mar 15;538(1):69-73. doi: 10.1016/j.gene.2014.01.017. Epub 2014 Jan 15. Gene. 2014. PMID: 24440784

9

Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event.

Genesio R, Ronga V, Castelluccio P, Fioretti G, Mormile A, Leone G, Conti A, Cavaliere ML, Nitsch L. Genesio R, et al. Mol Cytogenet. 2013 Aug 1;6(1):29. doi: 10.1186/1755-8166-6-29. Mol Cytogenet. 2013. PMID: 23915422 Free PMC article.

10

A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.

Terrone G, Cappuccio G, Genesio R, Esposito A, Fiorentino V, Riccitelli M, Nitsch L, Brunetti-Pierri N, Del Giudice E. Terrone G, et al. Among authors: genesio r. Am J Med Genet A. 2014 Jan;164A(1):190-3. doi: 10.1002/ajmg.a.36200. Epub 2013 Nov 15. Am J Med Genet A. 2014. PMID: 24243641

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