• 1197 Citations
  • 14 h-Index
1986 …2019
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Fingerprint Dive into the research topics where Pinella Failla is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 12 Similar Profiles
Celiac Disease Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Down Syndrome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Antibodies Medicine & Life Sciences
Genes Medicine & Life Sciences
Milk Proteins Medicine & Life Sciences

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Research Output 1986 2019

  • 1197 Citations
  • 14 h-Index
  • 40 Article
1 Citation (Scopus)
Chromatin Assembly and Disassembly
Brain Diseases
Atrophy
Neurons
Mutation
8 Citations (Scopus)

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform

Calì, F., Chiavetta, N. V., Ruggeri, G., Piccione, M., Selicorni, A., Palazzo, D., Bonsignore, M., Cereda, A., Elia, M., Failla, P., Figura, M. G., Fiumara, A., Maitz, S., Luana Mandarà, G. M., Mattina, T., Ragalmuto Mannino, A., Romano, C., Ruggieri, M., Salluzzo, R., Saporoso, A. & 6 others, Schepis, C., Sorge, G., Spanò, M., Tortorella, G., Salemi, M. & Damjanovicova, M., Feb 1 2017, In : European Journal of Medical Genetics. 60, 2, p. 93-99 7 p.

Research output: Contribution to journalArticle

Neurofibromatosis 1 Genes
Neurofibromatosis 1
Ions
Mutation
Mosaicism
14 Citations (Scopus)

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

Bianciardi, L., Fichera, M., Failla, P., Di Marco, C., Grozeva, D., Mencarelli, M. A., Spiga, O., Mari, F., Meloni, I., Raymond, L., Renieri, A., Romano, C. & Ariani, F., Feb 1 2016, In : Journal of Human Genetics. 61, 2, p. 95-101 7 p.

Research output: Contribution to journalArticle

Missense Mutation
Intellectual Disability
AT-Hook Motifs
Methyl-CpG-Binding Protein 2
Rett Syndrome