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Genetics of Mayer-Rokitansky-Küster-Hauser ( MRKH) syndrome.
Published in:
Clinical Genetics, 2017, v. 91, n. 2, p. 233, doi. 10.1111/cge.12883
By:
- Fontana, L.;
- Gentilin, B.;
- Fedele, L.;
- Gervasini, C.;
- Miozzo, M.
Publication type:
Article
Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis.
Published in:
Clinical Genetics, 2016, v. 89, n. 5, p. 557, doi. 10.1111/cge.12716
By:
- Basel‐Vanagaite, L.;
- Wolf, L.;
- Orin, M.;
- Larizza, L.;
- Gervasini, C.;
- Krantz, I.D.;
- Deardoff, M.A.
Publication type:
Article
Expanding the clinical spectrum of the ' HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.
Published in:
Clinical Genetics, 2016, v. 89, n. 5, p. 564, doi. 10.1111/cge.12717
By:
- Parenti, I.;
- Gervasini, C.;
- Pozojevic, J.;
- Wendt, K.S.;
- Watrin, E.;
- Azzollini, J.;
- Braunholz, D.;
- Buiting, K.;
- Cereda, A.;
- Engels, H.;
- Garavelli, L.;
- Glazar, R.;
- Graffmann, B.;
- Larizza, L.;
- Lüdecke, H.J.;
- Mariani, M.;
- Masciadri, M.;
- Pié, J.;
- Ramos, F.J.;
- Russo, S.
Publication type:
Article
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.
Published in:
Clinical Genetics, 2016, v. 89, n. 1, p. 74, doi. 10.1111/cge.12564
By:
- Parenti, I.;
- Gervasini, C.;
- Pozojevic, J.;
- Graul‐Neumann, L.;
- Azzollini, J.;
- Braunholz, D.;
- Watrin, E.;
- Wendt, K.S.;
- Cereda, A.;
- Cittaro, D.;
- Gillessen‐Kaesbach, G.;
- Lazarevic, D.;
- Mariani, M.;
- Russo, S.;
- Werner, R.;
- Krawitz, P.;
- Larizza, L.;
- Selicorni, A.;
- Kaiser, F.J.
Publication type:
Article
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
Published in:
Clinical Genetics, 2015, v. 88, n. 5, p. 431, doi. 10.1111/cge.12537
By:
- Spena, S.;
- Milani, D.;
- Rusconi, D.;
- Negri, G.;
- Colapietro, P.;
- Elcioglu, N.;
- Bedeschi, F.;
- Pilotta, A.;
- Spaccini, L.;
- Ficcadenti, A.;
- Magnani, C.;
- Scarano, G.;
- Selicorni, A.;
- Larizza, L.;
- Gervasini, C.
Publication type:
Article
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.
Published in:
Clinical Genetics, 2015, v. 87, n. 2, p. 148, doi. 10.1111/cge.12348
By:
- Negri, G.;
- Milani, D.;
- Colapietro, P.;
- Forzano, F.;
- Della Monica, M.;
- Rusconi, D.;
- Consonni, L.;
- Caffi, L. G.;
- Finelli, P.;
- Scarano, G.;
- Magnani, C.;
- Selicorni, A.;
- Spena, S.;
- Larizza, L.;
- Gervasini, C.
Publication type:
Article
Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity? Castronovo et al.
Published in:
Clinical Genetics, 2010, v. 78, n. 6, p. 560, doi. 10.1111/j.1399-0004.2010.01408.x
By:
- Castronovo, P.;
- Delahaye-Duriez, A.;
- Gervasini, C.;
- Azzollini, J.;
- Minier, F.;
- Russo, S.;
- Masciadri, M.;
- Selicorni, A.;
- Verloes, A.;
- Larizza, Lidia
Publication type:
Article
Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes.
Published in:
Clinical Genetics, 2008, v. 74, n. 6, p. 531, doi. 10.1111/j.1399-0004.2008.01086.x
By:
- Gervasini, C.;
- Pfundt, R.;
- Castronovo, P.;
- Russo, S.;
- Roversi, G.;
- Masciadri, M.;
- Milani, D.;
- Zampino, G.;
- Selicorni, A.;
- Schoenmakers, E. F. P. M.;
- Larizza, L.
Publication type:
Article
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.
Published in:
Clinical Genetics, 2007, v. 72, n. 2, p. 98, doi. 10.1111/j.1399-0004.2007.00832.x
By:
- Selicorni, A.;
- Russo, S.;
- Gervasini, C.;
- Castronovo, P.;
- Milani, D.;
- Cavalleri, F.;
- Bentivegna, A.;
- Masciadri, M.;
- Domi, A.;
- Divizia, M. T.;
- Sforzini, C.;
- Tarantino, E.;
- Memo, L.;
- Scarano, G.;
- Larizza, L.
Publication type:
Article
Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1865, doi. 10.1002/ajmg.a.40372
By:
- Decimi, Valentina;
- Parma, Barbara;
- Panceri, Roberto;
- Fossati, Chiara;
- Mariani, Milena;
- Russo, Silvia;
- Gervasini, Cristina C.;
- Cheli, Maurizio;
- Cereda, Anna;
- Selicorni, Angelo
Publication type:
Article
Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers.
Published in:
Human Genetics, 2001, v. 109, n. 1, p. 48, doi. 10.1007/s004390100536
By:
- Bentivegna, A.;
- Venturin, M.;
- Gervasini, C.;
- Corrado, L.;
- Larizza, L.;
- Riva, P.
Publication type:
Article

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