Luigi Bisceglia[Author] - Search Results

Year	Number of Results
2002	1
2004	1
2005	5
2006	4
2007	20
2008	3
2009	3
2010	9
2011	2
2012	3
2013	2
2015	2
2016	2
2017	2
2018	4
2020	2
2021	1
2022	2
2023	2
2024	2

1

Clinical utility gene card for: Cystinuria.

Eggermann T, Zerres K, Nunes V, Font-Llitjós M, Bisceglia L, Chatzikyriakidou A, dello Strologo L, Pras E, Creemers J, Palacin M. Eggermann T, et al. Among authors: bisceglia l. Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.163. Epub 2011 Aug 24. Eur J Hum Genet. 2012. PMID: 21863055 Free PMC article. No abstract available.

2

Opitz syndrome: improving clinical interpretation of intronic variants in MID1 gene.

Micale L, Russo F, Mascaro M, Morlino S, Nardella G, Fusco C, Bisceglia L, Meroni G, Castori M. Micale L, et al. Among authors: bisceglia l. Pediatr Res. 2023 Apr;93(5):1208-1215. doi: 10.1038/s41390-022-02237-y. Epub 2022 Aug 11. Pediatr Res. 2023. PMID: 35953512 Free article.

3

Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genes.

Fransen E, Valgaeren H, Janssens K, Sommen M, De Ridder R, Vandeweyer G, Bisceglia L, Soler V, Hoischen A, Mortier G, Malecaze F, Koppen C, Van Camp G. Fransen E, et al. Among authors: bisceglia l. Eur J Hum Genet. 2021 Dec;29(12):1745-1755. doi: 10.1038/s41431-021-00849-2. Epub 2021 Mar 19. Eur J Hum Genet. 2021. PMID: 33737726 Free PMC article.

4

A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.

Castori M, Ott CE, Bisceglia L, Leone MP, Mazza T, Castellana S, Tomassi J, Lanciotti S, Mundlos S, Hennekam RC, Kornak U, Brancati F. Castori M, et al. Among authors: bisceglia l. Am J Med Genet A. 2018 Sep;176(9):2028-2033. doi: 10.1002/ajmg.a.40379. Epub 2018 Sep 8. Am J Med Genet A. 2018. PMID: 30194892

5

A novel mutation in the fibrinogen γ-chain gene c.952G>T, p. (Gly318Cys) leading to hypo dysfibrinogenemia.

Casoria A, Miele C, Capasso F, Mormile R, Bisceglia L, Pracella R, Vecchione G, Cirillo F, Frangipane I, Conca P, Cimino E, Di Minno M, Tufano A. Casoria A, et al. Among authors: bisceglia l. Thromb Res. 2024 Feb;234:59-62. doi: 10.1016/j.thromres.2023.12.012. Epub 2023 Dec 23. Thromb Res. 2024. PMID: 38159325 No abstract available.

6

A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.

Torraco A, Morlino S, Rizza T, Di Nottia M, Bottaro G, Bisceglia L, Montanari A, Cappa M, Castori M, Bertini E, Carrozzo R. Torraco A, et al. Among authors: bisceglia l. Clin Genet. 2022 Jul;102(1):56-60. doi: 10.1111/cge.14127. Epub 2022 Mar 9. Clin Genet. 2022. PMID: 35246835

7

Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers.

Bianco A, Valletti A, Longo G, Bisceglia L, Montoya J, Emperador S, Guerriero S, Petruzzella V. Bianco A, et al. Among authors: bisceglia l. BMC Res Notes. 2018 Dec 20;11(1):911. doi: 10.1186/s13104-018-4025-y. BMC Res Notes. 2018. PMID: 30572950 Free PMC article.

8

Leber's hereditary optic neuropathy (LHON) in an Apulian cohort of subjects.

Bianco A, Bisceglia L, Trerotoli P, Russo L, D'Agruma L, Guerriero S, Petruzzella V. Bianco A, et al. Among authors: bisceglia l. Acta Myol. 2017 Sep 1;36(3):163-177. eCollection 2017 Sep. Acta Myol. 2017. PMID: 29774306 Free PMC article.

9

Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder.

Morlino S, Vaccaro L, Leone MP, Nardella G, Bisceglia L, Ortore RP, Verzicco G, Cassano L, Castori M, Cacchiarelli D, Micale L. Morlino S, et al. Among authors: bisceglia l. J Hum Genet. 2024 Mar 7. doi: 10.1038/s10038-024-01240-x. Online ahead of print. J Hum Genet. 2024. PMID: 38448605

10

Identification and Clinical Characterization of Adult Patients with Multigenerational Diabetes Mellitus.

Ludovico O, Carella M, Bisceglia L, Basile G, Mastroianno S, Palena A, De Cosmo S, Copetti M, Prudente S, Trischitta V. Ludovico O, et al. Among authors: bisceglia l. PLoS One. 2015 Aug 19;10(8):e0135855. doi: 10.1371/journal.pone.0135855. eCollection 2015. PLoS One. 2015. PMID: 26287533 Free PMC article.

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