Novelli A - Search Results

1

Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia.

Castori M, Pascolini G, Parisi V, Sana ME, Novelli A, Nürnberg P, Iascone M, Grammatico P. Castori M, et al. Among authors: novelli a. Am J Med Genet A. 2015 Apr;167A(4):842-51. doi: 10.1002/ajmg.a.36983. Epub 2015 Feb 23. Am J Med Genet A. 2015. PMID: 25708316

2

Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization.

Shieh JT, Aradhya S, Novelli A, Manning MA, Cherry AM, Brumblay J, Salpietro CD, Bernardini L, Dallapiccola B, Hoyme HE. Shieh JT, et al. Among authors: novelli a. Am J Med Genet A. 2006 Jun 15;140(12):1267-73. doi: 10.1002/ajmg.a.31262. Am J Med Genet A. 2006. PMID: 16691576

3

Five cases of supernumerary small ring chromosomes 1: heterogeneity and genotype-phenotype correlation.

Bernardini L, Capalbo A, D'Avanzo MG, Torrente I, Grammatico P, Dell'Edera D, Cavalcanti DP, Novelli A, Dallapiccola B. Bernardini L, et al. Among authors: novelli a. Eur J Med Genet. 2007 Mar-Apr;50(2):94-102. doi: 10.1016/j.ejmg.2006.11.001. Epub 2006 Nov 23. Eur J Med Genet. 2007. PMID: 17236832

4

Duplication 18q21.31-q22.2.

Ceccarini C, Sinibaldi L, Bernardini L, De Simone R, Mingarelli R, Novelli A, Dallapiccola B. Ceccarini C, et al. Among authors: novelli a. Am J Med Genet A. 2007 Feb 15;143(4):343-8. doi: 10.1002/ajmg.a.31588. Am J Med Genet A. 2007. PMID: 17256793

5

Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication.

Bernardini L, Castori M, Capalbo A, Mokini V, Mingarelli R, Simi P, Bertuccelli A, Novelli A, Dallapiccola B. Bernardini L, et al. Among authors: novelli a. Am J Med Genet A. 2007 Dec 15;143A(24):2937-43. doi: 10.1002/ajmg.a.32092. Am J Med Genet A. 2007. PMID: 18000908

6

3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs.

Digilio MC, Bernardini L, Mingarelli R, Capolino R, Capalbo A, Giuffrida MG, Versacci P, Novelli A, Dallapiccola B. Digilio MC, et al. Among authors: novelli a. Am J Med Genet A. 2009 Aug;149A(8):1777-81. doi: 10.1002/ajmg.a.32965. Am J Med Genet A. 2009. PMID: 19610115

7

Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith-Magenis syndrome).

Leoni C, Cesarini L, Dittoni S, Battaglia D, Novelli A, Bernardini L, Losurdo A, Vollono C, Testani E, Della Marca G, Zampino G. Leoni C, et al. Among authors: novelli a. Am J Med Genet A. 2010 Mar;152A(3):708-12. doi: 10.1002/ajmg.a.32700. Am J Med Genet A. 2010. PMID: 20186811

8

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.

Ferraris A, Bernardini L, Sabolic Avramovska V, Zanni G, Loddo S, Sukarova-Angelovska E, Parisi V, Capalbo A, Tumini S, Travaglini L, Mancini F, Duma F, Barresi S, Novelli A, Mercuri E, Tarani L; Italian CBCD Study Group; Bertini E, Dallapiccola B, Valente EM. Ferraris A, et al. Among authors: novelli a. Orphanet J Rare Dis. 2013 May 16;8:75. doi: 10.1186/1750-1172-8-75. Orphanet J Rare Dis. 2013. PMID: 23679990 Free PMC article.

9

Homozygous deletion in TUSC3 causing syndromic intellectual disability: a new patient.

Loddo S, Parisi V, Doccini V, Filippi T, Bernardini L, Brovedani P, Ricci F, Novelli A, Battaglia A. Loddo S, et al. Among authors: novelli a. Am J Med Genet A. 2013 Aug;161A(8):2084-7. doi: 10.1002/ajmg.a.36028. Epub 2013 Jul 4. Am J Med Genet A. 2013. PMID: 23825019

10

Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome.

Disciglio V, Lo Rizzo C, Mencarelli MA, Mucciolo M, Marozza A, Di Marco C, Massarelli A, Canocchi V, Baldassarri M, Ndoni E, Frullanti E, Amabile S, Anderlid BM, Metcalfe K, Le Caignec C, David A, Fryer A, Boute O, Joris A, Greco D, Pecile V, Battini R, Novelli A, Fichera M, Romano C, Mari F, Renieri A. Disciglio V, et al. Among authors: novelli a. Am J Med Genet A. 2014 Jul;164A(7):1666-76. doi: 10.1002/ajmg.a.36513. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700646

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