• 3167 Citations
  • 25 h-Index
19942018
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Fingerprint Dive into the research topics where Luigi Bisceglia is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

Cystinuria Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Chromosomes Medicine & Life Sciences
Leber's Hereditary Optic Atrophy Medicine & Life Sciences
Exons Medicine & Life Sciences
Mitochondrial DNA Medicine & Life Sciences
Immunoglobulin A Medicine & Life Sciences

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Research Output 1994 2018

  • 3167 Citations
  • 25 h-Index
  • 104 Article
  • 1 Conference contribution
  • 1 Letter

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

Castori, M., Ott, C-E., Bisceglia, L., Leone, M. P., Mazza, T., Castellana, S., Tomassi, J., Lanciotti, S., Mundlos, S., Hennekam, R. C., Kornak, U. & Brancati, F., Sep 1 2018, In : American Journal of Medical Genetics, Part A. 176, 9, p. 2028-2033 6 p.

Research output: Contribution to journalArticle

Cadherins
Mutation
Water
Genes
Exome
Central Nervous System Cavernous Hemangioma
Penetrance
Autophagy
Computer Simulation
Genes
Central Nervous System Cavernous Hemangioma
Penetrance
Autophagy
Computer Simulation
Genes
1 Citation (Scopus)

Cystinuria in a 13-month-old girl with absence of mutations in the SLC3A1 and SLC7A9 Genes

Krishnamurthy, S., Pavani, C., Kurup, P., Palanisamy, S., Jagadeesh, A., Sekar, K., Mahadevan, S. & Bisceglia, L., Jan 1 2018, In : Indian Journal of Nephrology. 28, 1, p. 84-85 2 p.

Research output: Contribution to journalLetter

2 Citations (Scopus)

Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G>A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report

Bianco, A., Bisceglia, L., De Caro, M. F., Galeandro, V., De Bonis, P., Tullo, A., Zoccolella, S., Guerriero, S. & Petruzzella, V., Jul 27 2018, In : BMC Medical Genetics. 19, 1, 129.

Research output: Contribution to journalArticle

Leber's Hereditary Optic Atrophy
Penetrance
Intellectual Disability
Microsatellite Repeats
Epilepsy