Chiurazzi P - Search Results

1

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.

2

Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy.

Placidi G, Maltese PE, Savastano MC, D'Agostino E, Cestrone V, Bertelli M, Chiurazzi P, Maceroni M, Minnella AM, Ziccardi L, Parisi V, Rizzo S, Falsini B. Placidi G, et al. Among authors: chiurazzi p. Diagnostics (Basel). 2023 Feb 23;13(5):850. doi: 10.3390/diagnostics13050850. Diagnostics (Basel). 2023. PMID: 36899994 Free PMC article.

3

Exfoliative Cytology and Genetic Analysis for a Non-Invasive Approach to the Diagnosis of White Sponge Nevus: Case Series.

Lajolo C, Cafiero C, Stigliano E, Grippaudo FR, Chiurazzi P, Grippaudo C. Lajolo C, et al. Among authors: chiurazzi p. Bioengineering (Basel). 2023 Jan 23;10(2):154. doi: 10.3390/bioengineering10020154. Bioengineering (Basel). 2023. PMID: 36829648 Free PMC article.

4

MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations.

Cristofoli F, Daja M, Maltese PE, Guerri G, Tanzi B, Miotto R, Bonetti G, Miertus J, Chiurazzi P, Stuppia L, Gatta V, Cecchin S, Bertelli M, Marceddu G. Cristofoli F, et al. Among authors: chiurazzi p. Genes (Basel). 2023 Aug 8;14(8):1600. doi: 10.3390/genes14081600. Genes (Basel). 2023. PMID: 37628650 Free PMC article.

5

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.

6

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

7

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.

8

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

9

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.

10

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.

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