Simi P - Search Results

1

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: simi p. 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

2

Two mosaic-YY males carrying asymmetric Y chromosomes.

Zelante L, Dallapiccola B, Calvano S, Memeo E, Gasparini P, Simi P, Rossi S, Finelli P, Rocchi M, Archidiacono N. Zelante L, et al. Among authors: simi p. Clin Genet. 1997 Jan;51(1):65-8. doi: 10.1111/j.1399-0004.1997.tb02418.x. Clin Genet. 1997. PMID: 9084939

3

Response to local dihydrotestosterone treatment in a patient with partial androgen-insensitivity syndrome due to a novel mutation in the androgen receptor gene.

Foresta C, Bettella A, Ferlin A, Garolla A, Moro E, Baldinotti F, Simi P, Dallapiccola B. Foresta C, et al. Among authors: simi p. Am J Med Genet. 2002 Jan 22;107(3):259-60. doi: 10.1002/ajmg.10146. Am J Med Genet. 2002. PMID: 11807912 No abstract available.

4

Characterization of a complex rearrangement of a chromosome 20 by FISH and array CGH.

Bertini V, Valetto A, Baroncelli GI, Simi P. Bertini V, et al. Among authors: simi p. Eur J Med Genet. 2011 Jul-Aug;54(4):e419-24. doi: 10.1016/j.ejmg.2011.03.004. Epub 2011 Mar 24. Eur J Med Genet. 2011. PMID: 21440097

5

Isolated 6q terminal deletions: an emerging new syndrome.

Bertini V, De Vito G, Costa R, Simi P, Valetto A. Bertini V, et al. Among authors: simi p. Am J Med Genet A. 2006 Jan 1;140(1):74-81. doi: 10.1002/ajmg.a.31020. Am J Med Genet A. 2006. PMID: 16329114

6

Acro-cardio-facial syndrome: a microdeletion syndrome?

Toschi B, Valetto A, Bertini V, Congregati C, Cantinotti M, Assanta N, Simi P. Toschi B, et al. Among authors: simi p. Am J Med Genet A. 2012 Aug;158A(8):1994-9. doi: 10.1002/ajmg.a.35444. Epub 2012 Jun 27. Am J Med Genet A. 2012. PMID: 22740423

7

Molecular characterization of 22q11 deletion in a three-generation family with maternal transmission.

Iascone MR, Vittorini S, Sacchelli M, Spadoni I, Simi P, Giusti S. Iascone MR, et al. Among authors: simi p. Am J Med Genet. 2002 Apr 1;108(4):319-21. Am J Med Genet. 2002. PMID: 11920838

8

Molecular and cytogenetic characterization of a structural rearrangement of the Y chromosome in an azoospermic man.

Valetto A, Bertini V, Rapalini E, Baldinotti F, Di Martino D, Simi P. Valetto A, et al. Among authors: simi p. Fertil Steril. 2004 May;81(5):1388-90. doi: 10.1016/j.fertnstert.2003.09.069. Fertil Steril. 2004. PMID: 15136108 Free article.

9

17q12 microduplications: a challenge for clinicians.

Bertini V, Orsini A, Bonuccelli A, Cambi F, Del Pistoia M, Vannozzi I, Toschi B, Saggese G, Simi P, Valetto A. Bertini V, et al. Among authors: simi p. Am J Med Genet A. 2015 Mar;167A(3):674-6. doi: 10.1002/ajmg.a.36905. Am J Med Genet A. 2015. PMID: 25691423

10

Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22.

Battini R, Battaglia A, Bertini V, Cioni G, Parrini B, Rapalini E, Simi P, Tinelli F, Valetto A. Battini R, et al. Among authors: simi p. Am J Med Genet A. 2004 Oct 1;130A(2):196-9. doi: 10.1002/ajmg.a.30276. Am J Med Genet A. 2004. PMID: 15372517

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