Marco Fichera

Associazione Oasi Maria SS.

Emailmarco.fichera@unict.it

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34 Similar Profiles

Intellectual Disability Medicine & Life Sciences

Genes Medicine & Life Sciences

Mutation Medicine & Life Sciences

Phenotype Medicine & Life Sciences

Autistic Disorder Medicine & Life Sciences

Microcephaly Medicine & Life Sciences

Epilepsy Medicine & Life Sciences

Chromosome Deletion Medicine & Life Sciences

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Research Output 1997 2019

98 Article

Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder

Scuderi, C., Saccuzzo, L., Vinci, M., Castiglia, L., Galesi, O., Salemi, M., Mattina, T., Borgione, E., Città, S., Romano, C. & Fichera, M., Jan 1 2019, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journal › Article

Ataxia

Intellectual Disability

Atrophy

Single Nucleotide Polymorphism

Psychiatry

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity

Cellini, E., Vetro, A., Conti, V., Marini, C., Doccini, V., Clementella, C., Parrini, E., Giglio, S., Della Monica, M., Fichera, M., Musumeci, S. A. & Guerrini, R., Jan 1 2019, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journal › Article

Periventricular Nodular Heterotopia

Genetic Heterogeneity

Genes

Malformations of Cortical Development

Transport Vesicles

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy

Fichera, M., Failla, P., Saccuzzo, L., Miceli, M., Salvo, E., Castiglia, L., Galesi, O., Grillo, L., Calì, F., Greco, D., Amato, C., Romano, C. & Elia, M., Jan 1 2019, (Accepted/In press) In : Human Genetics.

Research output: Contribution to journal › Article

Chromatin Assembly and Disassembly

Brain Diseases

Atrophy

Neurons

Mutation

Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis

Vinci, M., Fichera, M., Musumeci, S. A., Cali, F. & Vitello, G. A., Dec 1 2018, In : Journal of Genetics. 97, 5, p. 1469-1472 4 p.

Research output: Contribution to journal › Article

Hereditary Spastic Paraplegia

Spastic Paraparesis

Recessive Genes

Mutation

Genes

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Pizzo, L., Jensen, M., Polyak, A., Rosenfeld, J. A., Mannik, K., Krishnan, A., McCready, E., Pichon, O., Le Caignec, C., Van Dijck, A., Pope, K., Voorhoeve, E., Yoon, J., Stankiewicz, P., Cheung, S. W., Pazuchanics, D., Huber, E., Kumar, V., Kember, R. L., Mari, F. & 36 others, Curró, A., Castiglia, L., Galesi, O., Avola, E., Mattina, T., Fichera, M., Mandarà, L., Vincent, M., Nizon, M., Mercier, S., Bénéteau, C., Blesson, S., Martin-Coignard, D., Mosca-Boidron, A. L., Caberg, J. H., Bucan, M., Zeesman, S., Nowaczyk, M. J. M., Lefebvre, M., Faivre, L., Callier, P., Skinner, C., Keren, B., Perrine, C., Prontera, P., Marle, N., Renieri, A., Reymond, A., Kooy, R. F., Isidor, B., Schwartz, C., Romano, C., Sistermans, E., Amor, D. J., Andrieux, J. & Girirajan, S., Jan 1 2018, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journal › Article

Phenotype

Genes

Exome

Gene Dosage

Autistic Disorder