Milani D - Search Results

1

Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.

Ferrari L, Scuvera G, Tucci A, Bianchessi D, Rusconi F, Menni F, Battaglioli E, Milani D, Riva P. Ferrari L, et al. Among authors: milani d. Hum Genet. 2017 Oct;136(10):1329-1339. doi: 10.1007/s00439-017-1832-5. Epub 2017 Aug 3. Hum Genet. 2017. PMID: 28776093

2

Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome.

Olioso G, Passarini A, Atzeri F, Milani D, Cereda A, Cerutti M, Maitz S, Menni F, Selicorni A. Olioso G, et al. Among authors: milani d. Am J Med Genet A. 2009 Nov;149A(11):2532-7. doi: 10.1002/ajmg.a.33075. Am J Med Genet A. 2009. PMID: 19876900

3

De novo deletion of 1q31.1-q32.1 in a patient with developmental delay and behavioral disorders.

Milani D, Bedeschi MF, Iascone M, Chiarelli G, Cerutti M, Menni F. Milani D, et al. Cytogenet Genome Res. 2012;136(3):167-70. doi: 10.1159/000336979. Epub 2012 Mar 7. Cytogenet Genome Res. 2012. PMID: 22398643

4

Think about it: FMR1 gene mosaicism.

Bonarrigo FA, Russo S, Vizziello P, Menni F, Cogliati F, Giorgini V, Monti F, Milani D. Bonarrigo FA, et al. Among authors: milani d. J Child Neurol. 2014 Sep;29(9):NP74-7. doi: 10.1177/0883073813503187. Epub 2013 Sep 23. J Child Neurol. 2014. PMID: 24065579

5

Is it time to change the neurofibromatosis 1 diagnostic criteria?

Tadini G, Milani D, Menni F, Pezzani L, Sabatini C, Esposito S. Tadini G, et al. Among authors: milani d. Eur J Intern Med. 2014 Jul;25(6):506-10. doi: 10.1016/j.ejim.2014.04.004. Epub 2014 Apr 29. Eur J Intern Med. 2014. PMID: 24784952 Review.

6

A multidisciplinary approach in neurofibromatosis 1.

Milani D, Pezzani L, Tadini G, Menni F, Esposito S. Milani D, et al. Lancet Neurol. 2015 Jan;14(1):29-30. doi: 10.1016/S1474-4422(14)70255-8. Lancet Neurol. 2015. PMID: 25496892 No abstract available.

7

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.

Milani D, Manzoni FM, Pezzani L, Ajmone P, Gervasini C, Menni F, Esposito S. Milani D, et al. Ital J Pediatr. 2015 Jan 20;41:4. doi: 10.1186/s13052-015-0110-1. Ital J Pediatr. 2015. PMID: 25599811 Free PMC article. Review.

8

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. Rusconi D, et al. Among authors: milani d. Hum Genet. 2015 Jun;134(6):613-26. doi: 10.1007/s00439-015-1542-9. Epub 2015 Mar 25. Hum Genet. 2015. PMID: 25805166 Free article. Clinical Trial.

9

Treatment of neurofibromatosis type 1.

Sabatini C, Milani D, Menni F, Tadini G, Esposito S. Sabatini C, et al. Among authors: milani d. Curr Treat Options Neurol. 2015 Jun;17(6):355. doi: 10.1007/s11940-015-0355-4. Curr Treat Options Neurol. 2015. PMID: 25917340

10

Response to "Characteristics of 2p15-p16.1 microdeletion syndrome: review and description of two additional patients".

Ronzoni L, Saletti V, Scuvera G, Esposito S, Milani D. Ronzoni L, et al. Among authors: milani d. Congenit Anom (Kyoto). 2015 Nov;55(4):191-2. doi: 10.1111/cga.12119. Congenit Anom (Kyoto). 2015. PMID: 26153024 No abstract available.

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