Revealing the complexity of a monogenic disease: rett syndrome exome sequencing.

Autor: Elisa Grillo, Caterina Lo Rizzo, Laura Bianciardi, Veronica Bizzarri, Margherita Baldassarri, Ottavia Spiga, Simone Furini, Claudio De Felice, Cinzia Signorini, Silvia Leoncini, Alessandra Pecorelli, Lucia Ciccoli, Maria Antonietta Mencarelli, Joussef Hayek, Ilaria Meloni, Francesca Ariani, Francesca Mari, Alessandra Renieri

Publikováno v: PLoS ONE, Vol 8, Iss 2, p e56599 (2013)

Rett syndrome (OMIM#312750) is a monogenic disorder that may manifest as a large variety of phenotypes ranging from very severe to mild disease. Since there is a weak correlation between the mutation type in the Xq28 disease-gene MECP2/X-inactivation

Externí odkaz: https://doaj.org/article/a4ec025a02d846ca82a1003ff86d9153

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

Revealing the complexity of a monogenic disease: rett syndrome exome sequencing

Autor: Silvia Leoncini, Francesca Mari, Caterina Lo Rizzo, Claudio De Felice, Veronica Bizzarri, Ilaria Meloni, Francesca Ariani, Joussef Hayek, Lucia Ciccoli, Alessandra Renieri, Alessandra Pecorelli, Elisa Grillo, Ottavia Spiga, Simone Furini, Cinzia Signorini, Laura Bianciardi, Maria Antonietta Mencarelli, Margherita Baldassarri

Publikováno v: PLoS ONE
PLoS ONE, Vol 8, Iss 2, p e56599 (2013)

Rett syndrome (OMIM#312750) is a monogenic disorder that may manifest as a large variety of phenotypes ranging from very severe to mild disease. Since there is a weak correlation between the mutation type in the Xq28 disease-gene MECP2/X-inactivation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b725063e2399c1a6e8fd9a63ede0196
https://pubmed.ncbi.nlm.nih.gov/23468869