Finelli P - Search Results

1

Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.

Rinaldi B, Villa R, Sironi A, Garavelli L, Finelli P, Bedeschi MF. Rinaldi B, et al. Among authors: finelli p. Genes (Basel). 2022 Feb 11;13(2):335. doi: 10.3390/genes13020335. Genes (Basel). 2022. PMID: 35205380 Free PMC article. Review.

2

13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.

Ballarati L, Rossi E, Bonati MT, Gimelli S, Maraschio P, Finelli P, Giglio S, Lapi E, Bedeschi MF, Guerneri S, Arrigo G, Patricelli MG, Mattina T, Guzzardi O, Pecile V, Police A, Scarano G, Larizza L, Zuffardi O, Giardino D. Ballarati L, et al. Among authors: finelli p. J Med Genet. 2007 Jan;44(1):e60. doi: 10.1136/jmg.2006.043059. J Med Genet. 2007. PMID: 17209130 Free PMC article.

3

Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient.

Ballarati L, Recalcati MP, Bedeschi MF, Lalatta F, Valtorta C, Bellini M, Finelli P, Larizza L, Giardino D. Ballarati L, et al. Among authors: finelli p. Eur J Med Genet. 2009 Jul-Aug;52(4):218-23. doi: 10.1016/j.ejmg.2009.02.004. Epub 2009 Feb 21. Eur J Med Genet. 2009. PMID: 19236961

4

ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing.

Moncini S, Bedeschi MF, Castronovo P, Crippa M, Calvello M, Garghentino RR, Scuvera G, Finelli P, Venturin M. Moncini S, et al. Among authors: finelli p. Meta Gene. 2013 Oct 29;1:102-8. doi: 10.1016/j.mgene.2013.09.004. eCollection 2013 Dec. Meta Gene. 2013. PMID: 25606380 Free PMC article.

5

A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature.

Crippa M, Giangiobbe S, Villa R, Bestetti I, De Filippis T, Fatti L, Taurino J, Larizza L, Persani L, Bellini F, Finelli P, Bonati MT. Crippa M, et al. Among authors: finelli p. J Endocrinol Invest. 2018 Aug;41(8):929-936. doi: 10.1007/s40618-017-0819-3. Epub 2018 Jan 4. J Endocrinol Invest. 2018. PMID: 29302920

6

Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.

Colombo EA, Locatelli A, Cubells Sánchez L, Romeo S, Elcioglu NH, Maystadt I, Esteve Martínez A, Sironi A, Fontana L, Finelli P, Gervasini C, Pecile V, Larizza L. Colombo EA, et al. Among authors: finelli p. Int J Mol Sci. 2018 Apr 6;19(4):1103. doi: 10.3390/ijms19041103. Int J Mol Sci. 2018. PMID: 29642415 Free PMC article.

7

Developmental disorders with intellectual disability driven by chromatin dysregulation: Clinical overlaps and molecular mechanisms.

Larizza L, Finelli P. Larizza L, et al. Among authors: finelli p. Clin Genet. 2019 Feb;95(2):231-240. doi: 10.1111/cge.13365. Epub 2018 May 21. Clin Genet. 2019. PMID: 29672823 Review.

8

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability.

Alari V, Russo S, Terragni B, Ajmone PF, Sironi A, Catusi I, Calzari L, Concolino D, Marotta R, Milani D, Giardino D, Mantegazza M, Gervasini C, Finelli P, Larizza L. Alari V, et al. Among authors: finelli p. Stem Cell Res. 2018 Jul;30:130-140. doi: 10.1016/j.scr.2018.05.019. Epub 2018 May 30. Stem Cell Res. 2018. PMID: 29883886 Free article.

9

13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome - case report and review of the literature.

Bestetti I, Sironi A, Catusi I, Mariani M, Giardino D, Manoukian S, Milani D, Larizza L, Castronovo C, Finelli P. Bestetti I, et al. Among authors: finelli p. Mol Cytogenet. 2018 Sep 19;11:53. doi: 10.1186/s13039-018-0401-5. eCollection 2018. Mol Cytogenet. 2018. PMID: 30250511 Free PMC article.

10

Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features.

Cirello V, Giorgini V, Castronovo C, Marelli S, Mainini E, Sironi A, Recalcati MP, Pessina M, Giardino D, Larizza L, Persani L, Finelli P, Russo S, Fugazzola L. Cirello V, et al. Among authors: finelli p. Front Genet. 2018 Nov 30;9:600. doi: 10.3389/fgene.2018.00600. eCollection 2018. Front Genet. 2018. PMID: 30555519 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

211 results

Search Page