Bedeschi MF - Search Results

1

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.

Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Cirillo Silengo M, Larizza L, Riccio A, Ferrero GB. Mussa A, et al. Among authors: bedeschi mf. Eur J Hum Genet. 2016 Feb;24(2):183-90. doi: 10.1038/ejhg.2015.88. Epub 2015 Apr 22. Eur J Hum Genet. 2016. PMID: 25898929 Free PMC article.

2

Molecular characterization of FRAXE-positive subjects with mental impairement in two unrelated Italian families.

Russo S, Selicorni A, Bedeschi MF, Natacci F, Viziello P, Fortuna R, Pagani G, Dalprà L, Larizza L. Russo S, et al. Among authors: bedeschi mf. Am J Med Genet. 1998 Jan 23;75(3):304-8. Am J Med Genet. 1998. PMID: 9475603

3

Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression.

Russo S, Bedeschi MF, Cogliati F, Natacci F, Gianotti A, Parini R, Selicorni A, Larizza L. Russo S, et al. Among authors: bedeschi mf. Clin Dysmorphol. 2000 Jul;9(3):157-62. doi: 10.1097/00019605-200009030-00001. Clin Dysmorphol. 2000. PMID: 10955473

4

Biliary atresia and Kabuki syndrome: another case with long-term follow-up.

Selicorni A, Colombo C, Bonato S, Milani D, Giunta AM, Bedeschi MF. Selicorni A, et al. Among authors: bedeschi mf. Am J Med Genet. 2001 May 1;100(3):251. doi: 10.1002/ajmg.1253. Am J Med Genet. 2001. PMID: 11343312 No abstract available.

5

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

Bentivegna A, Milani D, Gervasini C, Castronovo P, Mottadelli F, Manzini S, Colapietro P, Giordano L, Atzeri F, Divizia MT, Uzielli ML, Neri G, Bedeschi MF, Faravelli F, Selicorni A, Larizza L. Bentivegna A, et al. Among authors: bedeschi mf. BMC Med Genet. 2006 Oct 19;7:77. doi: 10.1186/1471-2350-7-77. BMC Med Genet. 2006. PMID: 17052327 Free PMC article.

6

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: bedeschi mf. 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

7

High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis.

Gervasini C, Mottadelli F, Ciccone R, Castronovo P, Milani D, Scarano G, Bedeschi MF, Belli S, Pilotta A, Selicorni A, Zuffardi O, Larizza L. Gervasini C, et al. Among authors: bedeschi mf. Eur J Hum Genet. 2010 Jul;18(7):768-75. doi: 10.1038/ejhg.2010.1. Epub 2010 Feb 3. Eur J Hum Genet. 2010. PMID: 20125191 Free PMC article.

8

Clinical follow-up of young adults affected by Williams syndrome: experience of 45 Italian patients.

Bedeschi MF, Bianchi V, Colli AM, Natacci F, Cereda A, Milani D, Maitz S, Lalatta F, Selicorni A. Bedeschi MF, et al. Am J Med Genet A. 2011 Feb;155A(2):353-9. doi: 10.1002/ajmg.a.33819. Epub 2011 Jan 13. Am J Med Genet A. 2011. PMID: 21271653

9

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. Among authors: bedeschi mf. Cytogenet Genome Res. 2012;136(3):167-70. doi: 10.1159/000336979. Epub 2012 Mar 7. Cytogenet Genome Res. 2012. PMID: 22398643

10

Balance function in patients with Williams syndrome.

Barozzi S, Soi D, Gagliardi C, Selicorni A, Bedeschi MF, Forti S, Di Berardino F, Cesarani A, Brambilla D. Barozzi S, et al. Among authors: bedeschi mf. Gait Posture. 2013 Jun;38(2):221-5. doi: 10.1016/j.gaitpost.2012.11.012. Epub 2012 Dec 7. Gait Posture. 2013. PMID: 23219788

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