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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
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.
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.
Parenti I, Gervasini C, Pozojevic J, Graul-Neumann L, Azzollini J, Braunholz D, Watrin E, Wendt KS, Cereda A, Cittaro D, Gillessen-Kaesbach G, Lazarevic D, Mariani M, Russo S, Werner R, Krawitz P, Larizza L, Selicorni A, Kaiser FJ. Parenti I, et al. Among authors: mariani m. Clin Genet. 2016 Jan;89(1):74-81. doi: 10.1111/cge.12564. Epub 2015 Feb 25. Clin Genet. 2016. PMID: 25652421 Free article.
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.
Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Cirillo Silengo M, Larizza L, Riccio A, Ferrero GB. Mussa A, et al. Among authors: mariani m. Eur J Hum Genet. 2016 Feb;24(2):183-90. doi: 10.1038/ejhg.2015.88. Epub 2015 Apr 22. Eur J Hum Genet. 2016. PMID: 25898929 Free PMC article.
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
Fetal growth patterns in Beckwith-Wiedemann syndrome.
Mussa A, Russo S, de Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Silengo MC, Larizza L, Riccio A, Ferrero GB. Mussa A, et al. Among authors: mariani m. Clin Genet. 2016 Jul;90(1):21-7. doi: 10.1111/cge.12759. Epub 2016 Mar 15. Clin Genet. 2016. PMID: 26857110
Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series.
Moretto A, Scaravilli V, Ciceri V, Bosatra M, Giannatelli F, Ateniese B, Mariani M, Cereda A, Sosio S, Zanella A, Pesenti A, Selicorni A. Moretto A, et al. Among authors: mariani m. Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):222-8. doi: 10.1002/ajmg.c.31493. Epub 2016 May 4. Am J Med Genet C Semin Med Genet. 2016. PMID: 27145336
1,378 results