Pappalardo XG - Search Results

1

Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome.

Pavone P, Pappalardo XG, Mustafa N, Falsaperla R, Marino SD, Corsello G, Bianca S, Parano E, Ruggieri M. Pavone P, et al. Among authors: pappalardo xg. Neurol Sci. 2022 Nov;43(11):6529-6538. doi: 10.1007/s10072-022-06247-w. Epub 2022 Jul 9. Neurol Sci. 2022. PMID: 35804254 Free PMC article.

2

Child Abuse Syndrome (CAS): A Newly Recognized Distinct Entity.

Parano E, Pappalardo XG, Pavone P, Ruggieri M, Cavallaro S. Parano E, et al. Among authors: pappalardo xg. Open Neurol J. 2016 Jun 30;10:30-1. doi: 10.2174/1874205X01610010030. eCollection 2016. Open Neurol J. 2016. PMID: 27499819 Free PMC article. No abstract available.

3

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?

Pavone P, Corsello G, Cho SY, Pappalardo XG, Ruggieri M, Marino SD, Jin DK, Marino S, Falsaperla R. Pavone P, et al. Among authors: pappalardo xg. Ital J Pediatr. 2019 Dec 4;45(1):159. doi: 10.1186/s13052-019-0755-2. Ital J Pediatr. 2019. PMID: 31801583 Free PMC article. Review.

4

Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy.

Pavone P, Ruggieri M, Marino SD, Corsello G, Pappalardo X, Polizzi A, Parano E, Romano C, Marino S, Praticò AD, Falsaperla R. Pavone P, et al. Mol Genet Genomic Med. 2020 Apr;8(4):e1109. doi: 10.1002/mgg3.1109. Epub 2020 Jan 28. Mol Genet Genomic Med. 2020. PMID: 31991071 Free PMC article.

5

Previously Unreported COL7A1 Mutation in a Somali Patient with Dystrophic Epidermolysis Bullosa.

Venti V, Scalia B, Sauna A, Nasca MR, Smilari P, Praticò AD, Fiumara A, Pappalardo XG, Pavone P. Venti V, et al. Among authors: pappalardo xg. Mol Syndromol. 2020 Jan;10(6):332-338. doi: 10.1159/000504210. Epub 2019 Nov 16. Mol Syndromol. 2020. PMID: 32021608 Free PMC article.

6

Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2.

Pavone P, Pappalardo XG, Incorpora G, Falsaperla R, Marino SD, Corsello G, Parano E, Ruggieri M. Pavone P, et al. Among authors: pappalardo xg. Eur J Med Genet. 2020 Aug;63(8):103957. doi: 10.1016/j.ejmg.2020.103957. Epub 2020 May 23. Eur J Med Genet. 2020. PMID: 32454213

7

Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis.

Pavone P, Pappalardo XG, Praticò AD, Polizzi A, Ruggieri M, Piccione M, Corsello G, Falsaperla R. Pavone P, et al. Among authors: pappalardo xg. J Pediatr Genet. 2020 Sep;9(3):177-182. doi: 10.1055/s-0040-1710046. Epub 2020 Apr 23. J Pediatr Genet. 2020. PMID: 32714618 Free PMC article.

8

A novel GABRB3 variant in Dravet syndrome: Case report and literature review.

Pavone P, Pappalardo XG, Marino SD, Sciuto L, Corsello G, Ruggieri M, Parano E, Piccione M, Falsaperla R. Pavone P, et al. Among authors: pappalardo xg. Mol Genet Genomic Med. 2020 Nov;8(11):e1461. doi: 10.1002/mgg3.1461. Epub 2020 Sep 18. Mol Genet Genomic Med. 2020. PMID: 32945607 Free PMC article. Review.

9

Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures.

Falsaperla R, Pappalardo XG, Romano C, Marino SD, Corsello G, Ruggieri M, Parano E, Pavone P. Falsaperla R, et al. Among authors: pappalardo xg. Front Pediatr. 2020 Sep 11;8:550. doi: 10.3389/fped.2020.00550. eCollection 2020. Front Pediatr. 2020. PMID: 33042910 Free PMC article.

10

Chromosome 15q BP4-BP5 Deletion in a Girl with Nocturnal Frontal Lobe Epilepsy, Migraine, Circumscribed Hypertrichosis, and Language Impairment.

Pavone P, Pappalardo XG, Ohazuruike UNN, Striano P, Parisi P, Corsello G, Marino SD, Ruggieri M, Parano E, Falsaperla R. Pavone P, et al. Among authors: pappalardo xg. J Epilepsy Res. 2020 Dec 31;10(2):84-91. doi: 10.14581/jer.20014. eCollection 2020 Dec. J Epilepsy Res. 2020. PMID: 33659201 Free PMC article.

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