Salzano E - Search Results

1

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.

Leone MP, Morlino S, Nardella G, Pracella R, Giachino D, Celli L, Baldo D, Turolla L, Piccione M, Salzano E, Busè M, Lastella P, Zollino M, Cantone R, Grosso E, Zonta A, Pasini B, Piscopo C, De Maggio I, Priolo M, Mammi C, Foiadelli T, Trabatti C, Savasta S, Iolascon A, Ferraris A, Lodato V, Di Giosaffatte N, Majore S, Selicorni A, Petracca A, Fusco C, Celli M, Guarnieri V, Micale L, Castori M. Leone MP, et al. Among authors: salzano e. Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20. Hum Genet. 2023. PMID: 37079061

2

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.

3

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

4

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.

5

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.

6

Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly.

Salzano E, Niceta M, Pizzi S, Radio FC, Busè M, Mercadante F, Barresi S, Ferrara A, Mancini C, Tartaglia M, Piccione M. Salzano E, et al. Front Neurol. 2023 Feb 7;14:1090082. doi: 10.3389/fneur.2023.1090082. eCollection 2023. Front Neurol. 2023. PMID: 36824420 Free PMC article.

7

Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene.

Karimi K, Mol MO, Haghshenas S, Relator R, Levy MA, Kerkhof J, McConkey H, Brooks A, Zonneveld-Huijssoon E, Gerkes EH, Tedder ML, Vissers L, Salzano E, Piccione M, Asaftei SD, Carli D, Mussa A, Shukarova-Angelovska E, Trajkova S, Brusco A, Merla G, Alders MM, Bouman A, Sadikovic B. Karimi K, et al. Among authors: salzano e. Genet Med. 2024 Mar;26(3):101041. doi: 10.1016/j.gim.2023.101041. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054406

8

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

9

Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis.

Salzano E, Raible SE, Kaur M, Wilkens A, Sperti G, Tilton RK, Bettini LR, Rocca A, Cocchi G, Selicorni A, Conlin LK, McEldrew D, Gupta R, Thakur S, Izumi K, Krantz ID. Salzano E, et al. Am J Med Genet A. 2018 Dec;176(12):2575-2586. doi: 10.1002/ajmg.a.40499. Epub 2018 Oct 5. Am J Med Genet A. 2018. PMID: 30289601 Review.

10

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.

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

40 results

Search Page