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Research Output 2018 2019

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Article
2019
Intellectual Disability
Siblings
Genes
Chromosome Duplication
Splenomegaly

A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome

Alesi, V., Loddo, S., Calì, F., Orlando, V., Genovese, S., Ferretti, D., Calacci, C., Calvieri, G., Falasca, R., Ulgheri, L., Drago, F., Dallapiccola, B., Baban, A. & Novelli, A., May 30 2019, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Phenotype
Nose
Language Development Disorders
Haploinsufficiency
Muscle Hypotonia

Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome

Davis, K. W., Serrano, M., Loddo, S., Robinson, C., Alesi, V., Dallapiccola, B., Novelli, A. & Butler, M. G., Mar 22 2019, In : International Journal of Molecular Sciences. 20, 6

Research output: Contribution to journalArticle

deletion
Megalencephaly
Mothers
Epilepsy
Phenotype

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation

Ponzi, E., Alesi, V., Lepri, F. R., Genovese, S., Loddo, S., Mucciolo, M., Novelli, A., Dionisi-Vici, C. & Maiorana, A., Mar 27 2019, In : Molecular genetics & genomic medicine. p. e634

Research output: Contribution to journalArticle

Glycogen Storage Disease Type III
Uniparental Disomy
Chromosomes, Human, Pair 1
Growth
Genes
2018

Small 4p16.3 deletions: Three additional patients and review of the literature

Bernardini, L., Radio, F. C., Acquaviva, F., Gorgone, C., Postorivo, D., Torres, B., Alesi, V., Magliozzi, M., Lonardo, F., Monica, M. D., Nardone, A. M., Cesario, C., Mattina, T., Scarano, G., Dallapiccola, B., Digilio, M. C. & Novelli, A., 2018, In : American Journal of Medical Genetics, Part A. 176, 11, p. 2501-2508 8 p.

Research output: Contribution to journalArticle