Selicorni A - Search Results

1

A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature.

Franceschi R, Iascone M, Maitz S, Marchetti D, Mariani M, Selicorni A, Soffiati M, Maines E. Franceschi R, et al. Among authors: selicorni a. Am J Med Genet A. 2022 Aug;188(8):2434-2437. doi: 10.1002/ajmg.a.62857. Epub 2022 Jun 7. Am J Med Genet A. 2022. PMID: 35670300 Review.

2

Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome.

Selicorni A, Colli AM, Passarini A, Milani D, Cereda A, Cerutti M, Maitz S, Alloni V, Salvini L, Galli MA, Ghiglia S, Salice P, Danzi GB. Selicorni A, et al. Am J Med Genet A. 2009 Jun;149A(6):1268-72. doi: 10.1002/ajmg.a.32838. Am J Med Genet A. 2009. PMID: 19449412

3

Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome.

Olioso G, Passarini A, Atzeri F, Milani D, Cereda A, Cerutti M, Maitz S, Menni F, Selicorni A. Olioso G, et al. Among authors: selicorni a. Am J Med Genet A. 2009 Nov;149A(11):2532-7. doi: 10.1002/ajmg.a.33075. Am J Med Genet A. 2009. PMID: 19876900

4

A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies.

Caselli R, Ballarati L, Selicorni A, Milani D, Maitz S, Valtorta C, Larizza L, Giardino D. Caselli R, et al. Among authors: selicorni a. Eur J Med Genet. 2010 Sep-Oct;53(5):325-8. doi: 10.1016/j.ejmg.2010.05.004. Epub 2010 Jun 2. Eur J Med Genet. 2010. PMID: 20621612

5

Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature.

Ballarati L, Cereda A, Caselli R, Selicorni A, Recalcati MP, Maitz S, Finelli P, Larizza L, Giardino D. Ballarati L, et al. Among authors: selicorni a. Eur J Med Genet. 2011 Jan-Feb;54(1):55-9. doi: 10.1016/j.ejmg.2010.10.003. Epub 2010 Oct 20. Eur J Med Genet. 2011. PMID: 20969981 Review.

6

Clinical follow-up of young adults affected by Williams syndrome: experience of 45 Italian patients.

Bedeschi MF, Bianchi V, Colli AM, Natacci F, Cereda A, Milani D, Maitz S, Lalatta F, Selicorni A. Bedeschi MF, et al. Among authors: selicorni a. Am J Med Genet A. 2011 Feb;155A(2):353-9. doi: 10.1002/ajmg.a.33819. Epub 2011 Jan 13. Am J Med Genet A. 2011. PMID: 21271653

7

Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia.

Ballarati L, Cereda A, Caselli R, Maitz S, Russo S, Selicorni A, Larizza L, Giardino D. Ballarati L, et al. Among authors: selicorni a. Eur J Med Genet. 2012 Feb;55(2):124-7. doi: 10.1016/j.ejmg.2011.12.001. Epub 2011 Dec 17. Eur J Med Genet. 2012. PMID: 22210230 Free article.

8

A new report of Cornelia de Lange syndrome associated with split hand and feet.

Barboni C, Cereda A, Mariani M, Gervasini C, Ajmone P, Biondi A, Selicorni A. Barboni C, et al. Among authors: selicorni a. Am J Med Genet A. 2012 Nov;158A(11):2953-5. doi: 10.1002/ajmg.a.35623. Epub 2012 Sep 18. Am J Med Genet A. 2012. PMID: 22991273

9

A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1.

Cianci P, Tono V, Sala A, Locatelli L, Carta C, Rizzari C, Biondi A, Selicorni A. Cianci P, et al. Among authors: selicorni a. Am J Med Genet A. 2013 Jun;161A(6):1401-4. doi: 10.1002/ajmg.a.35875. Epub 2013 Apr 23. Am J Med Genet A. 2013. PMID: 23613113

10

Germline mosaicism in Cornelia de Lange syndrome: dilemmas and risk figures.

Mariani M, Bettini LR, Cereda A, Maitz S, Gervasini C, Russo S, Masciadri M, Biondi A, Larizza L, Selicorni A. Mariani M, et al. Among authors: selicorni a. Am J Med Genet A. 2013 Jul;161A(7):1825-6. doi: 10.1002/ajmg.a.35988. Epub 2013 May 21. Am J Med Genet A. 2013. PMID: 23696053 No abstract available.

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