Salzano E - Search Results

1

4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization.

Piccione M, Salzano E, Vecchio D, Ferrara D, Malacarne M, Pierluigi M, Ferrara I, Corsello G. Piccione M, et al. Among authors: salzano e. Eur J Paediatr Neurol. 2015 Jul;19(4):477-83. doi: 10.1016/j.ejpn.2015.02.002. Epub 2015 Feb 23. Eur J Paediatr Neurol. 2015. PMID: 25769226

2

A case of femoral-facial syndrome in a patient with autism spectrum disorders.

Vecchio D, Salzano E, Vecchio A, Di Filippo T, Roccella M. Vecchio D, et al. Among authors: salzano e. Minerva Pediatr. 2011 Aug;63(4):341-4. Minerva Pediatr. 2011. PMID: 21909070

3

Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis.

Piccione M, Antona R, Salzano E, Cavani S, Malacarne M, Morreale Bubella R, Pierluigi M, Viaggi CD, Corsello G. Piccione M, et al. Among authors: salzano e. Am J Med Genet A. 2012 Jan;158A(1):150-4. doi: 10.1002/ajmg.a.34308. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22105932

4

A rare unbalanced translocation 1;18 in a child with epilepsy, mild dysmorphology and mental retardation.

Vecchio D, Salzano E, Vecchio A, Roccella M. Vecchio D, et al. Among authors: salzano e. Minerva Pediatr. 2012 Jun;64(3):365-7. Minerva Pediatr. 2012. PMID: 22555332

5

Delineating a new critical region for juvenile myoclonic epilepsy at the 22q11.2 chromosome.

Piccione M, Vecchio D, Salzano E, Corsello G. Piccione M, et al. Among authors: salzano e. Epilepsy Behav. 2013 Dec;29(3):587-8. doi: 10.1016/j.yebeh.2013.08.008. Epub 2013 Sep 5. Epilepsy Behav. 2013. PMID: 24012507 No abstract available.

6

Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation.

Corsello G, Salzano E, Vecchio D, Antona V, Grasso M, Malacarne M, Carella M, Palumbo P, Piro E, Giuffrè M. Corsello G, et al. Among authors: salzano e. Am J Med Genet A. 2015 Dec;167A(12):3130-8. doi: 10.1002/ajmg.a.37293. Epub 2015 Sep 3. Am J Med Genet A. 2015. PMID: 26333487

7

12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature.

Mercadante F, Busè M, Salzano E, Fragapane T, Palazzo D, Malacarne M, Piccione M. Mercadante F, et al. Among authors: salzano e. Ital J Pediatr. 2020 Jul 28;46(1):108. doi: 10.1186/s13052-020-00866-9. Ital J Pediatr. 2020. PMID: 32723361 Free PMC article. Review.

8

Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability.

Poeta L, Malacarne M, Padula A, Drongitis D, Verrillo L, Lioi MB, Chiariello AM, Bianco S, Nicodemi M, Piccione M, Salzano E, Coviello D, Miano MG. Poeta L, et al. Among authors: salzano e. Int J Mol Sci. 2022 Mar 13;23(6):3084. doi: 10.3390/ijms23063084. Int J Mol Sci. 2022. PMID: 35328505 Free PMC article. Review.

9

Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene.

Mercadante F, Piro E, Busè M, Salzano E, Ferrara A, Serra G, Passarello C, Corsello G, Piccione M. Mercadante F, et al. Among authors: salzano e. Ital J Pediatr. 2022 Aug 19;48(1):152. doi: 10.1186/s13052-022-01340-4. Ital J Pediatr. 2022. PMID: 35986401 Free PMC article.

10

Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid.

Vinciguerra M, Leto F, Cassarà F, Tartaglia V, Malacarne M, Coviello D, Cigna V, Orlandi E, Picciotto F, Cucinella G, Salzano E, Piccione M, Maggio A, Giambona A. Vinciguerra M, et al. Among authors: salzano e. Life (Basel). 2022 Dec 21;13(1):20. doi: 10.3390/life13010020. Life (Basel). 2022. PMID: 36675969 Free PMC article.

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