Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

Autor: Maas, Saskia M., Shaw, Adam C., Bikker, Hennie, Lüdecke, Hermann-Josef, van der Tuin, Karin, Badura-Stronka, Magdalena, Belligni, Elga, Biamino, Elisa, Bonati, Maria Teresa, Carvalho, Daniel R., Cobben, JanMaarten, de Man, Stella A., Den Hollander, Nicolette S., Di Donato, Nataliya, Garavelli, Livia, Grønborg, Sabine, Herkert, Johanna C., Hoogeboom, A. Jeannette M., Jamsheer, Aleksander, Latos-Bielenska, Anna, Maat-Kievit, Anneke, Magnani, Cinzia, Marcelis, Carlo, Mathijssen, Inge B., Nielsen, Maartje, Otten, Ellen, Ousager, Lilian B., Pilch, Jacek, Plomp, Astrid, Poke, Gemma, Poluha, Anna, Posmyk, Renata, Rieubland, Claudine, Silengo, Margharita, Simon, Marleen, Steichen, Elisabeth, Stumpel, Connie, Szakszon, Katalin, Polonkai, Edit, van den Ende, Jenneke, van der Steen, Antony, van Essen, Ton, van Haeringen, Arie, van Hagen, Johanna M., Verheij, Joke B.G.M., Mannens, Marcel M., Hennekam, Raoul C.

Publikováno v: In European Journal of Medical Genetics May 2015 58(5):279-292

Familial occurrence of ptosis, nasal speech, prominent ears, hand anomalies and learning problems

Autor: Belligni, Elga F., Hennekam, Raoul C.M.

Publikováno v: In European Journal of Medical Genetics 2010 53(4):192-196

Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability

Autor: Faravelli Francesca, Pierluigi Mauro, Messa Jole, Molinatto Cristina, Biamino Elisa, Belligni Elga F, Zuffardi Orsetta, Ferrero Giovanni B, Silengo Margherita

Publikováno v: Italian Journal of Pediatrics, Vol 35, Iss 1, p 9 (2009)

Abstract Background Intellectual disability affects approximately 1 to 3% of the general population. The etiology is still poorly understood and it is estimated that one-half of the cases are due to genetic factors. Cryptic subtelomeric aberrations h

Externí odkaz: https://doaj.org/article/df1a97f9509442c882cdd4b59c685ad8

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion

Autor: Novara, Francesca, Stanzial, Franco, Rossi, Elena, Benedicenti, Francesco, Inzana, Francesca, Di Gregorio, Eleonora, Brusco, Alfredo, Graakjaer, Jesper, Fagerberg, Christina, Belligni, ELGA FABIA, Elga Fabia, Cirillo, Margherita, Zuffardi, Orsetta, Ciccone, Roberto

Publikováno v: Novara, F, Stanzial, F, Rossi, E, Benedicenti, F, Inzana, F, Di Gregorio, E, Brusco, A, Graakjaer, J, Fagerberg, C R, Belligni, E, Silengo, M, Zuffardi, O & Ciccone, R 2014, ' Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion ', American Journal of Medical Genetics. Part A, vol. 164, no. 8, pp. 2084-2090 . https://doi.org/10.1002/ajmg.a.36591

NSD1 point mutations, submicroscopic deletions and intragenic deletions are the major cause of Sotos syndrome, characterized by pre-postnatal generalized overgrowth with advanced bone age, learning disability, seizures, distinctive facial phenotype.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c95216b0bfd1454261879332f22ef21
https://doi.org/10.1002/ajmg.a.36591

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