Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes

Autor: Martina Miceli, Pinella Failla, Lucia Saccuzzo, Ornella Galesi, Silvestra Amata, Corrado Romano, Maria Clara Bonaglia, Marco Fichera

Background Individuals with the 2p15p16.1 microdeletion syndrome share a complex phenotype including neurodevelopmental delay, brain malformations, microcephaly, and autistic behavior. The analysis of the shortest region of overlap (SRO) between dele

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f60b69575748638c897b6e22d07501f9
https://hdl.handle.net/20.500.11769/550889

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

Autor: Corrado Romano, Pinella Failla, Lucia Grillo, Donatella Greco, Martina Miceli, Francesco Calì, Eliana Salvo, Marco Fichera, Ornella Galesi, Lucia Saccuzzo, Carmelo Amato, Maurizio Elia, Lucia Castiglia

Developmental and epileptic encephalopathies (DEEs) are genetically heterogenous conditions, often characterized by early onset, EEG interictal epileptiform abnormalities, polymorphous and drug-resistant seizures, and neurodevelopmental impairments.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::017063d166355bec3d450fed11273559
http://hdl.handle.net/20.500.11769/359701

Recurrent duplications of 17q12 associated with variable phenotypes

Autor: Elke Van Oudenhove, Nicolette S. den Hollander, Tomas W Fitzgerald, Luis F. Escobar, Andrew G. L. Douglas, Alessandra Renieri, Charles E. Schwartz, Heather C Mefford, Nigel P. Carter, Serena Piazzolla, Maria Kibaek, Jennelle C. Hodge, Arnaud Vanlander, Pinella Failla, Amy Lawson Yuen, John A. Crolla, Bert Callewaert, Mark C. Hannibal, Veronica Bizzarri, Marco Fichera, Elyse Mitchell, Corrado Romano, Evan E. Eichler, Maria Rita Digilio, Sandra Janssens, Cindy Skinner, Diana Rajan, Emanuela Avola, Antonino Alberti, Anne Slavotinek, Maria Antonietta Mencarelli, Susanne Kjaegaard

Publikováno v: Mitchell, E, Douglas, A, Kjaegaard, S, Callewaert, B, Vanlander, A, Janssens, S, Yuen, A L, Skinner, C, Failla, P, Alberti, A, Avola, E, Fichera, M, Kibæk, M, Digilio, M C, Hannibal, M C, den Hollander, N S, Bizzarri, V, Renieri, A, Mencarelli, M A, Fitzgerald, T, Piazzolla, S, van Oudenhove, E, Romano, C, Schwartz, C, Eichler, E E, Slavotinek, A, Escobar, L, Rajan, D, Crolla, J, Carter, N, Hodge, J C & Mefford, H C 2015, ' Recurrent duplications of 17q12 associated with variable phenotypes ', American Journal of Medical Genetics. Part A, vol. 167, no. 12, pp. 3038-3045 . https://doi.org/10.1002/ajmg.a.37351

The ability to identify the clinical nature of the recurrent duplication of chromosome 17q12 has been limited by its rarity and the diverse range of phenotypes associated with this genomic change. In order to further define the clinical features of a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::343bd2fbf9c688d99c076df37c57f538
https://portal.findresearcher.sdu.dk/da/publications/8e11dfd2-922c-405b-bf3e-3bd41ce6ac7f

Failure of fluoxetine to modify the skin-picking behaviour of Prader-Willi syndrome

Autor: R. Palazzo, Maddalena Siragusa, Corrado Romano, Carmelo Schepis, Pinella Failla

Publikováno v: Australasian Journal of Dermatology. 39:57-60

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::10cbeebfd40af671df3bfa2e031cc339
https://doi.org/10.1111/j.1440-0960.1998.tb01247.x

Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome

Autor: Valeria Chiavetta, Alda Ragalmuto, Carmelo Schepis, Corrado Romano, Francesco Cali, Cataldo Scavuzzo, Giuseppa Ruggeri, Pietro Schinocca, Pinella Failla, Valentino Romano

Rubinstein-Taybi syndrome is a rare autosomal dominant congenital disorder characterized by postnatal growth retardation, psychomotor developmental delay, skeletal anomalies, peculiar facial morphology, and tumorigenesis. Mutations in the gene encodi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb2f5d79f8291b6d5915b1a0bce6052e
http://hdl.handle.net/10447/98862