Brusco A - Search Results

1

Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia.

Saviozzi S, Saluto A, Piane M, Prudente S, Migone N, DeMarchi M, Brusco A, Chessa L. Saviozzi S, et al. Among authors: brusco a. Hum Mutat. 2003 Apr;21(4):450. doi: 10.1002/humu.9129. Hum Mutat. 2003. PMID: 12655570

2

The G4 gene is duplicated in 44% of human immunoglobulin heavy chain constant region haplotypes.

Brusco A, Cinque F, Saviozzi S, Boccazzi C, DeMarchi M, Carbonara AO. Brusco A, et al. Hum Genet. 1997 Jul;100(1):84-9. doi: 10.1007/s004390050470. Hum Genet. 1997. PMID: 9225974

3

A large TSC2 and PKD1 gene deletion is associated with renal and extrarenal signs of autosomal dominant polycystic kidney disease.

Longa L, Scolari F, Brusco A, Carbonara C, Polidoro S, Valzorio B, Riegler P, Migone N, Maiorca R. Longa L, et al. Among authors: brusco a. Nephrol Dial Transplant. 1997 Sep;12(9):1900-7. doi: 10.1093/ndt/12.9.1900. Nephrol Dial Transplant. 1997. PMID: 9306341

4

A tuberous sclerosis patient with a large TSC2 and PKD1 gene deletion shows extrarenal signs of autosomal dominant polycystic kidney disease.

Longa L, Brusco A, Carbonara C, Polidoro S, Scolari F, Valzorio B, Riegler P, Tardanico R, Migone N. Longa L, et al. Among authors: brusco a. Contrib Nephrol. 1997;122:91-5. doi: 10.1159/000059909. Contrib Nephrol. 1997. PMID: 9399046 No abstract available.

5

Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.

Dianzani I, de Sanctis L, Smooker PM, Gough TJ, Alliaudi C, Brusco A, Spada M, Blau N, Dobos M, Zhang HP, Yang N, Ponzone A, Armarego WL, Cotton RG. Dianzani I, et al. Among authors: brusco a. Hum Mutat. 1998;12(4):267-73. doi: 10.1002/(SICI)1098-1004(1998)12:4<267::AID-HUMU8>3.0.CO;2-C. Hum Mutat. 1998. PMID: 9744478

6

Molecular characterization of immunoglobulin G4 gene isoallotypes.

Brusco A, Saviozzi S, Cinque F, DeMarchi M, Boccazzi C, de Lange G, van Leeuwen AM, Carbonara AO. Brusco A, et al. Eur J Immunogenet. 1998 Oct;25(5):349-55. doi: 10.1046/j.1365-2370.1998.00113.x. Eur J Immunogenet. 1998. PMID: 9805657

7

A recurrent breakpoint in the most common deletion of the Ig heavy chain locus (del A1-GP-G2-G4-E).

Brusco A, Saviozzi S, Cinque F, Bottaro A, DeMarchi M. Brusco A, et al. J Immunol. 1999 Oct 15;163(8):4392-8. J Immunol. 1999. PMID: 10510380

8

TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene.

Longa L, Saluto A, Brusco A, Polidoro S, Padovan S, Allavena A, Carbonara C, Grosso E, Migone N. Longa L, et al. Among authors: brusco a. Hum Genet. 2001 Feb;108(2):156-66. doi: 10.1007/s004390100460. Hum Genet. 2001. PMID: 11281455

9

A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA.

Saviozzi S, Saluto A, Taylor AM, Last JI, Trebini F, Paradiso MC, Grosso E, Funaro A, Ponzio G, Migone N, Brusco A. Saviozzi S, et al. Among authors: brusco a. J Med Genet. 2002 Jan;39(1):57-61. doi: 10.1136/jmg.39.1.57. J Med Genet. 2002. PMID: 11826028 Free PMC article. No abstract available.

10

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.

Longo I, Porcedda P, Mari F, Giachino D, Meloni I, Deplano C, Brusco A, Bosio M, Massella L, Lavoratti G, Roccatello D, Frascá G, Mazzucco G, Muda AO, Conti M, Fasciolo F, Arrondel C, Heidet L, Renieri A, De Marchi M. Longo I, et al. Among authors: brusco a. Kidney Int. 2002 Jun;61(6):1947-56. doi: 10.1046/j.1523-1755.2002.00379.x. Kidney Int. 2002. PMID: 12028435 Free article.

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