Carrozzo R - Search Results

1

Two new nonsense mutations (Q80X; Q389X) in patients with severe Hunter syndrome (mucopolysaccharidosis type II.).

Carrozzo R, Tonlorenzi R, Corsolini F, Gatti R. Carrozzo R, et al. Hum Mutat. 1996;7(2):184-5. doi: 10.1002/humu.1380070204. Hum Mutat. 1996. PMID: 8829647 No abstract available.

2

An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient.

Regis S, Carrozzo R, Filocamo M, Serra G, Mastropaolo C, Gatti R. Regis S, et al. Among authors: carrozzo r. Hum Genet. 1995 Aug;96(2):233-5. doi: 10.1007/BF00207387. Hum Genet. 1995. PMID: 7635478

3

Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressor.

Meroni G, Reymond A, Alcalay M, Borsani G, Tanigami A, Tonlorenzi R, Lo Nigro C, Messali S, Zollo M, Ledbetter DH, Brent R, Ballabio A, Carrozzo R. Meroni G, et al. Among authors: carrozzo r. EMBO J. 1997 May 15;16(10):2892-906. doi: 10.1093/emboj/16.10.2892. EMBO J. 1997. PMID: 9184233 Free PMC article.

4

Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X) (pter-->q24::q21.32-->qter) and random X inactivation.

Carrozzo R, Arrigo G, Rossi E, Bardoni B, Cammarata M, Gandullia P, Gatti R, Zuffardi O. Carrozzo R, et al. Am J Med Genet. 1997 Oct 31;72(3):329-34. Am J Med Genet. 1997. PMID: 9332664

5

Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.

Miano MG, Testa F, Filippini F, Trujillo M, Conte I, Lanzara C, Millán JM, De Bernardo C, Grammatico B, Mangino M, Torrente I, Carrozzo R, Simonelli F, Rinaldi E, Ventruto V, D'Urso M, Ayuso C, Ciccodicola A. Miano MG, et al. Among authors: carrozzo r. Hum Mutat. 2001 Aug;18(2):109-19. doi: 10.1002/humu.1160. Hum Mutat. 2001. PMID: 11462235

6

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules.

Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R, Carrozzo R, Maestrini E, Pieretti M, Taillon-Miller P, Brown CJ, Willard HF, Lawrence C, Graziella Persico M, Camerino G, Ballabio A. Franco B, et al. Among authors: carrozzo r. Nature. 1991 Oct 10;353(6344):529-36. doi: 10.1038/353529a0. Nature. 1991. PMID: 1922361

7

Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.

Lo Nigro C, Chong CS, Smith AC, Dobyns WB, Carrozzo R, Ledbetter DH. Lo Nigro C, et al. Among authors: carrozzo r. Hum Mol Genet. 1997 Feb;6(2):157-64. doi: 10.1093/hmg/6.2.157. Hum Mol Genet. 1997. PMID: 9063735

8

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.

Cosma MP, Pepe S, Parenti G, Settembre C, Annunziata I, Wade-Martins R, Di Domenico C, Di Natale P, Mankad A, Cox B, Uziel G, Mancini GM, Zammarchi E, Donati MA, Kleijer WJ, Filocamo M, Carrozzo R, Carella M, Ballabio A. Cosma MP, et al. Among authors: carrozzo r. Hum Mutat. 2004 Jun;23(6):576-81. doi: 10.1002/humu.20040. Hum Mutat. 2004. PMID: 15146462

9

Mutation analysis in 16 patients with mtDNA depletion.

Carrozzo R, Bornstein B, Lucioli S, Campos Y, de la Pena P, Petit N, Dionisi-Vici C, Vilarinho L, Rizza T, Bertini E, Garesse R, Santorelli FM, Arenas J. Carrozzo R, et al. Hum Mutat. 2003 Apr;21(4):453-4. doi: 10.1002/humu.9135. Hum Mutat. 2003. PMID: 12655576

10

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy MP, Enriquez JA, Uziel G, Bertini E, Dionisi-Vici C, Franco B, Meitinger T, Zeviani M. Tiranti V, et al. Among authors: carrozzo r. Am J Hum Genet. 1998 Dec;63(6):1609-21. doi: 10.1086/302150. Am J Hum Genet. 1998. PMID: 9837813 Free PMC article.

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