DeMarchi M - 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: demarchi m. 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. Among authors: demarchi m. Hum Genet. 1997 Jul;100(1):84-9. doi: 10.1007/s004390050470. Hum Genet. 1997. PMID: 9225974

3

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. Among authors: demarchi m. J Immunol. 1999 Oct 15;163(8):4392-8. J Immunol. 1999. PMID: 10510380

4

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. Kidney Int. 2002 Jun;61(6):1947-56. doi: 10.1046/j.1523-1755.2002.00379.x. Kidney Int. 2002. PMID: 12028435 Free article.

5

Two-tier analysis of histone H2AX phosphorylation allows the identification of Ataxia Telangiectasia heterozygotes.

Porcedda P, Turinetto V, Orlando L, Lantelme E, Brusco A, De Marchi M, Amoroso A, Ricardi U, Gregori D, Giachino C. Porcedda P, et al. Radiother Oncol. 2009 Jul;92(1):133-7. doi: 10.1016/j.radonc.2008.12.010. Epub 2009 Jan 23. Radiother Oncol. 2009. PMID: 19167771

6

Pulsed-field gel analysis of human immunoglobulin heavy-chain constant region gene deletions reveals the extent of unmapped regions within the locus.

Bottaro A, de Marchi M, Migone N, Carbonara AO. Bottaro A, et al. Genomics. 1989 May;4(4):505-8. doi: 10.1016/0888-7543(89)90273-5. Genomics. 1989. PMID: 2501213

7

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. Among authors: demarchi m. Eur J Immunogenet. 1998 Oct;25(5):349-55. doi: 10.1046/j.1365-2370.1998.00113.x. Eur J Immunogenet. 1998. PMID: 9805657

8

Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans.

Mandrile G, Di Gregorio E, Goel H, Giachino D, De Mercanti S, Iudicello M, Rolando M, Losa S, De Marchi M, Brusco A. Mandrile G, et al. Cerebellum. 2016 Apr;15(2):208-12. doi: 10.1007/s12311-015-0679-3. Cerebellum. 2016. PMID: 25998497 Free article. No abstract available.

9

Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis.

Renieri A, Bassi MT, Galli L, Zhou J, Giani M, De Marchi M, Ballabio A. Renieri A, et al. Hum Mutat. 1994;4(3):195-8. doi: 10.1002/humu.1380040304. Hum Mutat. 1994. PMID: 7833948

10

Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome.

Neri TM, Zanelli P, De Palma G, Savi M, Rossetti S, Turco AE, Pignatti GF, Galli L, Bruttini M, Renieri A, Mingarelli R, Trivelli A, Pinciaroli AR, Ragaiolo M, Rizzoni GF, De Marchi M. Neri TM, et al. Hum Mutat. 1998;Suppl 1:S106-9. doi: 10.1002/humu.1380110135. Hum Mutat. 1998. PMID: 9452056 No abstract available.

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