Chiurazzi P - Search Results

1

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.

Zollino M, Orteschi D, Murdolo M, Lattante S, Battaglia D, Stefanini C, Mercuri E, Chiurazzi P, Neri G, Marangi G. Zollino M, et al. Among authors: chiurazzi p. Nat Genet. 2012 Apr 29;44(6):636-8. doi: 10.1038/ng.2257. Nat Genet. 2012. PMID: 22544367

2

XLMR genes: update 1992.

Neri G, Chiurazzi P, Arena F, Lubs HA, Glass IA. Neri G, et al. Among authors: chiurazzi p. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):373-82. doi: 10.1002/ajmg.1320430158. Am J Med Genet. 1992. PMID: 1605215 Review.

3

Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal.

Genuardi M, Bardoni B, Floridia G, Chiurazzi P, Scarano G, Zollino M, Garcea N, Martini-Neri ME, Neri G. Genuardi M, et al. Among authors: chiurazzi p. Clin Genet. 1995 Jan;47(1):38-41. doi: 10.1111/j.1399-0004.1995.tb03919.x. Clin Genet. 1995. PMID: 7774042

4

Exclusion of linkage between autosomal dominant split hand/split foot and markers from chromosome 7q: further evidence for genetic heterogeneity.

Gurrieri F, Genuardi M, Chiurazzi P, Gillessen-Kaesbach G, Neri G. Gurrieri F, et al. Among authors: chiurazzi p. Am J Hum Genet. 1994 Oct;55(4):853-5. Am J Hum Genet. 1994. PMID: 7942863 Free PMC article. No abstract available.

5

No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome.

Chiurazzi P, de Graaff E, Ng J, Verkerk AJ, Wolfson S, Fisch GS, Kozak L, Neri G, Oostra BA. Chiurazzi P, et al. Am J Med Genet. 1994 Jul 15;51(4):309-14. doi: 10.1002/ajmg.1320510405. Am J Med Genet. 1994. PMID: 7942992

6

Unstable triplets and their mutational mechanism: size reduction of the CGG repeat vs. germline mosaicism in the fragile X syndrome.

Chiurazzi P, Kozak L, Neri G. Chiurazzi P, et al. Am J Med Genet. 1994 Jul 15;51(4):517-21. doi: 10.1002/ajmg.1320510446. Am J Med Genet. 1994. PMID: 7943033 Review.

7

XLMR genes: update 1994.

Neri G, Chiurazzi P, Arena JF, Lubs HA. Neri G, et al. Among authors: chiurazzi p. Am J Med Genet. 1994 Jul 15;51(4):542-9. doi: 10.1002/ajmg.1320510451. Am J Med Genet. 1994. PMID: 7943038 Review.

8

Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3.

Kozák L, Chiurazzi P, Genuardi M, Pomponi MG, Zollino M, Neri G. Kozák L, et al. Among authors: chiurazzi p. J Med Genet. 1993 Oct;30(10):866-9. doi: 10.1136/jmg.30.10.866. J Med Genet. 1993. PMID: 8230164 Free PMC article.

9

X-linked VACTERL with hydrocephalus: the VACTERL-H syndrome.

Genuardi M, Chiurazzi P, Capelli A, Neri G. Genuardi M, et al. Among authors: chiurazzi p. Birth Defects Orig Artic Ser. 1993;29(1):235-41. Birth Defects Orig Artic Ser. 1993. PMID: 8280876 No abstract available.

10

XLMR genes: update 1996.

Lubs HA, Chiurazzi P, Arena JF, Schwartz C, Tranebjaerg L, Neri G. Lubs HA, et al. Among authors: chiurazzi p. Am J Med Genet. 1996 Jul 12;64(1):147-57. doi: 10.1002/(SICI)1096-8628(19960712)64:1<147::AID-AJMG25>3.0.CO;2-M. Am J Med Genet. 1996. PMID: 8826465 Review.

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