Giuffrida MG - Search Results

1

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.

Digilio MC, Bernardini L, Consoli F, Lepri FR, Giuffrida MG, Baban A, Surace C, Ferese R, Angioni A, Novelli A, Marino B, De Luca A, Dallapiccola B. Digilio MC, et al. Among authors: giuffrida mg. Eur J Med Genet. 2013 Mar;56(3):144-9. doi: 10.1016/j.ejmg.2012.12.004. Epub 2012 Dec 25. Eur J Med Genet. 2013. PMID: 23270675

2

Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene.

Bedeschi MF, Novelli A, Bernardini L, Parazzini C, Bianchi V, Torres B, Natacci F, Giuffrida MG, Ficarazzi P, Dallapiccola B, Lalatta F. Bedeschi MF, et al. Among authors: giuffrida mg. Am J Med Genet A. 2008 Jul 1;146A(13):1718-24. doi: 10.1002/ajmg.a.32365. Am J Med Genet A. 2008. PMID: 18512229

3

3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs.

Digilio MC, Bernardini L, Mingarelli R, Capolino R, Capalbo A, Giuffrida MG, Versacci P, Novelli A, Dallapiccola B. Digilio MC, et al. Among authors: giuffrida mg. Am J Med Genet A. 2009 Aug;149A(8):1777-81. doi: 10.1002/ajmg.a.32965. Am J Med Genet A. 2009. PMID: 19610115

4

X chromosome monosomy restricted to the left ventricle is not a major cause of isolated hypoplastic left heart.

Bernardini L, Giuffrida MG, Francalanci P, Capalbo A, Novelli A, Callea F, Dallapiccola B. Bernardini L, et al. Among authors: giuffrida mg. Am J Med Genet A. 2010 Aug;152A(8):1967-72. doi: 10.1002/ajmg.a.33538. Am J Med Genet A. 2010. PMID: 20635409 Clinical Trial.

5

Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1.

Digilio MC, Bernardini L, Lepri F, Giuffrida MG, Guida V, Baban A, Versacci P, Capolino R, Torres B, De Luca A, Novelli A, Marino B, Dallapiccola B. Digilio MC, et al. Among authors: giuffrida mg. Am J Med Genet A. 2011 Sep;155A(9):2196-202. doi: 10.1002/ajmg.a.34131. Epub 2011 Aug 3. Am J Med Genet A. 2011. PMID: 21815254

6

17p13.1 microdeletion: genetic and clinical findings in a new patient with epilepsy and comparison with literature.

Giordano L, Palestra F, Giuffrida MG, Molinaro A, Iodice A, Bernardini L, La Boria P, Accorsi P, Novelli A. Giordano L, et al. Among authors: giuffrida mg. Am J Med Genet A. 2014 Jan;164A(1):225-30. doi: 10.1002/ajmg.a.36225. Am J Med Genet A. 2014. PMID: 24501763 Review.

7

An additional clinical sign of 17q21.31 microdeletion syndrome: preaxial polydactyly of hands with broad thumbs.

Barone C, Novelli A, Capalbo A, Del Grano AC, Giuffrida MG, Indaco L, Bianca S. Barone C, et al. Among authors: giuffrida mg. Am J Med Genet A. 2015 Jul;167(7):1671-3. doi: 10.1002/ajmg.a.37054. Epub 2015 Apr 9. Am J Med Genet A. 2015. PMID: 25858762 No abstract available.

8

A novel mosaic 1q32.1 microduplication identified through Chromosome Microarray Analysis: narrowing the smallest critical region including KDM5B gene found associated with neurodevelopmetal disorders.

Miolo G, Giuffrida MG, Corona G, Capalbo A, Pivetta B, Tessitori G, Bernardini L. Miolo G, et al. Among authors: giuffrida mg. Eur J Med Genet. 2019 Sep;62(9):103558. doi: 10.1016/j.ejmg.2018.10.010. Epub 2018 Oct 25. Eur J Med Genet. 2019. PMID: 31405577

9

A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1.

Giuffrida MG, Mastromoro G, Guida V, Truglio M, Fabbretti M, Torres B, Mazza T, De Luca A, Roggini M, Bernardini L, Pizzuti A. Giuffrida MG, et al. Am J Med Genet A. 2020 Mar;182(3):508-512. doi: 10.1002/ajmg.a.61431. Epub 2019 Dec 27. Am J Med Genet A. 2020. PMID: 31880396

10

12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.

Niclass T, Le Guyader G, Beneteau C, Joubert M, Pizzuti A, Giuffrida MG, Bernardini L, Gilbert-Dussardier B, Bilan F, Egloff M. Niclass T, et al. Among authors: giuffrida mg. Am J Med Genet A. 2020 Sep;182(9):2133-2138. doi: 10.1002/ajmg.a.61734. Epub 2020 Jul 6. Am J Med Genet A. 2020. PMID: 32633079

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

109 results

Search Page

Filters