Chiurazzi P - Search Results

1

Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis.

Tabolacci E, Pomponi MG, Remondini L, Pietrobono R, Orteschi D, Nobile V, Pucci C, Musto E, Pane M, Mercuri EM, Neri G, Genuardi M, Chiurazzi P, Zollino M. Tabolacci E, et al. Among authors: chiurazzi p. Genes (Basel). 2021 Nov 27;12(12):1909. doi: 10.3390/genes12121909. Genes (Basel). 2021. PMID: 34946857 Free PMC article.

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

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

5

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.

6

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.

7

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.

8

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.

9

Significance of linkage disequilibrium between the fragile X locus and its flanking markers.

Chiurazzi P, Macpherson J, Sherman S, Neri G. Chiurazzi P, et al. Am J Med Genet. 1996 Jul 12;64(1):203-8. doi: 10.1002/(SICI)1096-8628(19960712)64:1<203::AID-AJMG37>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8826477 Review. No abstract available.

10

Fragile X founder chromosomes in Italy: a few initial events and possible explanation for their heterogeneity.

Chiurazzi P, Genuardi M, Kozak L, Giovannucci-Uzielli ML, Bussani C, Dagna-Bricarelli F, Grasso M, Perroni L, Sebastio G, Sperandeo MP, Oostra BA, Neri G. Chiurazzi P, et al. Am J Med Genet. 1996 Jul 12;64(1):209-15. doi: 10.1002/(SICI)1096-8628(19960712)64:1<209::AID-AJMG38>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8826478

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