Fontana A - Search Results

1

Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann-Steiner syndrome.

Nardello R, Mangano GD, Fontana A, Gagliardo C, Midiri F, Borgia P, Brighina F, Raieli V, Mangano S, Salpietro V. Nardello R, et al. Among authors: fontana a. Eur J Med Genet. 2021 Feb;64(2):104133. doi: 10.1016/j.ejmg.2020.104133. Epub 2020 Dec 30. Eur J Med Genet. 2021. PMID: 33387673

2

Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities.

Mangano GD, Fontana A, Salpietro V, Antona V, Mangano GR, Nardello R. Mangano GD, et al. Among authors: fontana a. Eur J Med Genet. 2022 Mar;65(3):104441. doi: 10.1016/j.ejmg.2022.104441. Epub 2022 Jan 25. Eur J Med Genet. 2022. PMID: 35091116

3

A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster.

Mangano GD, Antona V, Calì E, Fontana A, Salpietro V, Houlden H, Veggiotti P, Nardello R. Mangano GD, et al. Among authors: fontana a. Seizure. 2022 Apr;97:20-22. doi: 10.1016/j.seizure.2022.03.001. Epub 2022 Mar 4. Seizure. 2022. PMID: 35278764 Free article.

4

A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability.

Nardello R, Fontana A, Antona V, Beninati A, Mangano GD, Stallone MC, Mangano S. Nardello R, et al. Among authors: fontana a. Brain Dev. 2018 Jan;40(1):58-64. doi: 10.1016/j.braindev.2017.07.003. Epub 2017 Jul 26. Brain Dev. 2018. PMID: 28756000

5

A novel mutation in KCNQ3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome.

Piro E, Nardello R, Gennaro E, Fontana A, Taglialatela M, Mangano GD, Corsello G, Mangano S. Piro E, et al. Among authors: fontana a. Epileptic Disord. 2019 Feb 1;21(1):87-91. doi: 10.1684/epd.2019.1030. Epileptic Disord. 2019. PMID: 30782577

6

Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants.

Nardello R, Fontana A, Mangano GD, Efthymiou S, Salpietro V, Houlden H, Mangano S. Nardello R, et al. Among authors: fontana a. Epileptic Disord. 2020 Feb 1;22(1):111-115. doi: 10.1684/epd.2020.1138. Epileptic Disord. 2020. PMID: 32031527

7

Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant.

Nardello R, Plicato G, Mangano GD, Gennaro E, Mangano S, Brighina F, Raieli V, Fontana A. Nardello R, et al. Among authors: fontana a. BMC Neurol. 2020 Apr 26;20(1):155. doi: 10.1186/s12883-020-01704-5. BMC Neurol. 2020. PMID: 32336275 Free PMC article.

8

Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review.

Nardello R, Mangano GD, Antona V, Fontana A, Striano P, Giorgio E, Brusco A, Mangano S, Salpietro V. Nardello R, et al. Among authors: fontana a. Seizure. 2021 Feb;85:151-154. doi: 10.1016/j.seizure.2020.12.017. Epub 2020 Dec 31. Seizure. 2021. PMID: 33476899 Free article. Review. No abstract available.

9

A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes.

Nardello R, Antona V, Mangano GD, Salpietro V, Mangano S, Fontana A. Nardello R, et al. Among authors: fontana a. BMC Med Genomics. 2021 Apr 8;14(1):98. doi: 10.1186/s12920-021-00934-x. BMC Med Genomics. 2021. PMID: 33832486 Free PMC article.

10

De novo GRIN2A variants associated with epilepsy and autism and literature review.

Mangano GD, Riva A, Fontana A, Salpietro V, Mangano GR, Nobile G, Orsini A, Iacomino M, Battini R, Astrea G, Striano P, Nardello R. Mangano GD, et al. Among authors: fontana a. Epilepsy Behav. 2022 Apr;129:108604. doi: 10.1016/j.yebeh.2022.108604. Epub 2022 Feb 23. Epilepsy Behav. 2022. PMID: 35217385 Review.

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