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Items: 1 to 20 of 85

1.

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.

Mol Cytogenet. 2018 Sep 19;11:53. doi: 10.1186/s13039-018-0401-5. eCollection 2018.

2.

Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*).

Alari V, Russo S, Rovina D, Gowran A, Garzo M, Crippa M, Mazzanti L, Scalera C, Prosperi E, Giardino D, Gervasini C, Finelli P, Pompilio G, Larizza L.

Stem Cell Res. 2018 Jul;30:175-179. doi: 10.1016/j.scr.2018.06.009. Epub 2018 Jun 18.

3.

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.

Stem Cell Res. 2018 Jul;30:130-140. doi: 10.1016/j.scr.2018.05.019. Epub 2018 May 30.

4.

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

Larizza L, Finelli P.

Clin Genet. 2018 Apr 19. doi: 10.1111/cge.13365. [Epub ahead of print] Review.

PMID:
29672823
5.

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.

Int J Mol Sci. 2018 Apr 6;19(4). pii: E1103. doi: 10.3390/ijms19041103.

6.

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.

J Endocrinol Invest. 2018 Aug;41(8):929-936. doi: 10.1007/s40618-017-0819-3. Epub 2018 Jan 4.

PMID:
29302920
7.

Herpes simplex encephalitis in an immunocompromised adult with novel MRI and pathology findings.

Modak J, Song X, Finelli P, Prasad A.

Clin Neuroradiol. 2017 Jun;27(2):231-234. doi: 10.1007/s00062-016-0536-x. Epub 2016 Aug 24. No abstract available.

PMID:
27557804
8.

Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

Russo S, Calzari L, Mussa A, Mainini E, Cassina M, Di Candia S, Clementi M, Guzzetti S, Tabano S, Miozzo M, Sirchia S, Finelli P, Prontera P, Maitz S, Sorge G, Calcagno A, Maghnie M, Divizia MT, Melis D, Manfredini E, Ferrero GB, Pecile V, Larizza L.

Clin Epigenetics. 2016 Apr 21;8:40. doi: 10.1186/s13148-016-0206-5. eCollection 2016. No abstract available.

9.

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

Russo S, Calzari L, Mussa A, Mainini E, Cassina M, Di Candia S, Clementi M, Guzzetti S, Tabano S, Miozzo M, Sirchia S, Finelli P, Prontera P, Maitz S, Sorge G, Calcagno A, Maghnie M, Divizia MT, Melis D, Manfredini E, Ferrero GB, Pecile V, Larizza L.

Clin Epigenetics. 2016 Mar 1;8:23. doi: 10.1186/s13148-016-0183-8. eCollection 2016. Erratum in: Clin Epigenetics. 2016;8:40.

10.

From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.

Negri G, Magini P, Milani D, Colapietro P, Rusconi D, Scarano E, Bonati MT, Priolo M, Crippa M, Mazzanti L, Wischmeijer A, Tamburrino F, Pippucci T, Finelli P, Larizza L, Gervasini C.

Hum Mutat. 2016 Feb;37(2):175-83. doi: 10.1002/humu.22922. Epub 2015 Nov 4.

PMID:
26486927
11.

Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors.

Roversi G, Picinelli C, Bestetti I, Crippa M, Perotti D, Ciceri S, Saccheri F, Collini P, Poliani PL, Catania S, Peissel B, Pagni F, Russo S, Peterlongo P, Manoukian S, Finelli P.

Sci Rep. 2015 Oct 20;5:15454. doi: 10.1038/srep15454.

12.

Fetal cell microchimerism: a protective role in autoimmune thyroid diseases.

Cirello V, Rizzo R, Crippa M, Campi I, Bortolotti D, Bolzani S, Colombo C, Vannucchi G, Maffini MA, de Liso F, Ferrero S, Finelli P, Fugazzola L.

Eur J Endocrinol. 2015 Jul;173(1):111-8. doi: 10.1530/EJE-15-0028. Epub 2015 Apr 27.

PMID:
25916393
13.

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.

Crippa M, Rusconi D, Castronovo C, Bestetti I, Russo S, Cereda A, Selicorni A, Larizza L, Finelli P.

Mol Cytogenet. 2015 Mar 26;8:20. doi: 10.1186/s13039-015-0126-7. eCollection 2015.

14.

Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.

Rusconi D, Negri G, Colapietro P, Picinelli C, Milani D, Spena S, Magnani C, Silengo MC, Sorasio L, Curtisova V, Cavaliere ML, Prontera P, Stangoni G, Ferrero GB, Biamino E, Fischetto R, Piccione M, Gasparini P, Salviati L, Selicorni A, Finelli P, Larizza L, Gervasini C.

Hum Genet. 2015 Jun;134(6):613-26. doi: 10.1007/s00439-015-1542-9. Epub 2015 Mar 25.

PMID:
25805166
15.

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.

Meta Gene. 2013 Oct 29;1:102-8. doi: 10.1016/j.mgene.2013.09.004. eCollection 2013 Dec.

16.

Association of functional variations in COMT and GCH1 genes with postherniotomy pain and related impairment.

Belfer I, Dai F, Kehlet H, Finelli P, Qin L, Bittner R, Aasvang EK.

Pain. 2015 Feb;156(2):273-9. doi: 10.1097/01.j.pain.0000460307.48701.b0.

PMID:
25599448
17.

Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: clinical report and review of the literature.

Castronovo C, Crippa M, Bestetti I, Rusconi D, Russo S, Larizza L, Sangermani R, Bonati MT, Finelli P.

Am J Med Genet A. 2015 Jan;167A(1):221-30. doi: 10.1002/ajmg.a.36815. Epub 2014 Oct 22. Review.

PMID:
25339188
18.

New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene.

Crippa M, Bestetti I, Perotti M, Castronovo C, Tabano S, Picinelli C, Grassi G, Larizza L, Pincelli AI, Finelli P.

BMC Med Genet. 2014 May 2;15:52. doi: 10.1186/1471-2350-15-52.

19.

Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls.

Parenti I, Rovina D, Masciadri M, Cereda A, Azzollini J, Picinelli C, Limongelli G, Finelli P, Selicorni A, Russo S, Gervasini C, Larizza L.

Epigenetics. 2014 Jul;9(7):973-9. doi: 10.4161/epi.28903. Epub 2014 Apr 22.

20.

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.

Negri G, Milani D, Colapietro P, Forzano F, Della Monica M, Rusconi D, Consonni L, Caffi LG, Finelli P, Scarano G, Magnani C, Selicorni A, Spena S, Larizza L, Gervasini C.

Clin Genet. 2015 Feb;87(2):148-54. doi: 10.1111/cge.12348. Epub 2014 Feb 17.

PMID:
24476420

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