Mariani M - Search Results

1

Partial duplication of the PARK2 gene in a child with developmental delay and her normal mother: a second report.

Mariani M, Crosti F, Redaelli S, Fossati C, Piras R, Biondi A, Dalprà L, Selicorni A. Mariani M, et al. Am J Med Genet B Neuropsychiatr Genet. 2013 Jul;162B(5):485-6. doi: 10.1002/ajmg.b.32173. Epub 2013 Jun 6. Am J Med Genet B Neuropsychiatr Genet. 2013. PMID: 23740672 No abstract available.

2

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: mariani m. 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

3

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. 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.

4

Cervical spine malformation in cornelia de lange syndrome: a report of three patients.

Bettini LR, Locatelli L, Mariani M, Cianci P, Giussani C, Canonico F, Cereda A, Russo S, Gervasini C, Biondi A, Selicorni A. Bettini LR, et al. Among authors: mariani m. Am J Med Genet A. 2014 Jun;164A(6):1520-4. doi: 10.1002/ajmg.a.36457. Epub 2014 Mar 25. Am J Med Genet A. 2014. PMID: 24668777

5

Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?

Cavalleri V, Bettini LR, Barboni C, Cereda A, Mariani M, Spinelli M, Gervasini C, Russo S, Biondi A, Jankovic M, Selicorni A. Cavalleri V, et al. Among authors: mariani m. Am J Med Genet A. 2016 Jan;170A(1):130-4. doi: 10.1002/ajmg.a.37390. Epub 2015 Oct 5. Am J Med Genet A. 2016. PMID: 26437745

6

A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome.

Cereda A, Mariani M, Rebora P, Sajeva A, Ajmone PF, Gervasini C, Russo S, Kullmann G, Valsecchi G, Selicorni A. Cereda A, et al. Among authors: mariani m. Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):179-89. doi: 10.1002/ajmg.c.31494. Epub 2016 May 5. Am J Med Genet C Semin Med Genet. 2016. PMID: 27148700

7

Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients.

Mariani M, Decimi V, Bettini LR, Maitz S, Gervasini C, Masciadri M, Ajmone P, Kullman G, Dinelli M, Panceri R, Cereda A, Selicorni A. Mariani M, et al. Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):206-13. doi: 10.1002/ajmg.c.31502. Epub 2016 May 10. Am J Med Genet C Semin Med Genet. 2016. PMID: 27164219

8

Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort.

Decimi V, Parma B, Panceri R, Fossati C, Mariani M, Russo S, Gervasini CC, Cheli M, Cereda A, Selicorni A. Decimi V, et al. Among authors: mariani m. Am J Med Genet A. 2018 Sep;176(9):1865-1871. doi: 10.1002/ajmg.a.40372. Epub 2018 Sep 21. Am J Med Genet A. 2018. PMID: 30240081

9

Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates?

Parma B, Cianci P, Mariani M, Cereda A, Panceri R, Fossati C, Maestri L, Macchini F, Onesimo R, Zampino G, Betalli P, Cheli M, Selicorni A. Parma B, et al. Among authors: mariani m. Am J Med Genet A. 2020 Jul;182(7):1697-1703. doi: 10.1002/ajmg.a.61625. Epub 2020 May 21. Am J Med Genet A. 2020. PMID: 32436647

10

Williams-Beuren Syndrome and celiac disease: A real association?

Pangallo E, Parma B, Mariani M, Cianci P, De Paoli A, Maitz S, Fossati C, Panceri R, Agosti M, Selicorni A. Pangallo E, et al. Among authors: mariani m. Eur J Med Genet. 2020 Sep;63(9):103999. doi: 10.1016/j.ejmg.2020.103999. Epub 2020 Jul 2. Eur J Med Genet. 2020. PMID: 32622956

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