Ballabio A - Search Results

1

Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

Zampino G, Pantaleoni F, Carta C, Cobellis G, Vasta I, Neri C, Pogna EA, De Feo E, Delogu A, Sarkozy A, Atzeri F, Selicorni A, Rauen KA, Cytrynbaum CS, Weksberg R, Dallapiccola B, Ballabio A, Gelb BD, Neri G, Tartaglia M. Zampino G, et al. Among authors: ballabio a. Hum Mutat. 2007 Mar;28(3):265-72. doi: 10.1002/humu.20431. Hum Mutat. 2007. PMID: 17054105

2

Identification of the gene for oral-facial-digital type I syndrome.

Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, Selicorni A, Gammaro L, Scolari F, Woolf AS, Sylvie O, Bernard L, Malcolm S, Winter R, Ballabio A, Franco B. Ferrante MI, et al. Among authors: ballabio a. Am J Hum Genet. 2001 Mar;68(3):569-76. doi: 10.1086/318802. Epub 2001 Feb 13. Am J Hum Genet. 2001. PMID: 11179005 Free PMC article.

3

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. Among authors: ballabio a. Hum Mutat. 1994;4(3):195-8. doi: 10.1002/humu.1380040304. Hum Mutat. 1994. PMID: 7833948

4

Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency.

Settembre C, Annunziata I, Spampanato C, Zarcone D, Cobellis G, Nusco E, Zito E, Tacchetti C, Cosma MP, Ballabio A. Settembre C, et al. Among authors: ballabio a. Proc Natl Acad Sci U S A. 2007 Mar 13;104(11):4506-11. doi: 10.1073/pnas.0700382104. Epub 2007 Mar 6. Proc Natl Acad Sci U S A. 2007. PMID: 17360554 Free PMC article.

5

Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.

Fedele AO, Filocamo M, Di Rocco M, Sersale G, Lübke T, di Natale P, Cosma MP, Ballabio A. Fedele AO, et al. Among authors: ballabio a. Hum Mutat. 2007 May;28(5):523. doi: 10.1002/humu.9488. Hum Mutat. 2007. PMID: 17397050

6

Lack of sik1 in mouse embryonic stem cells impairs cardiomyogenesis by down-regulating the cyclin-dependent kinase inhibitor p57kip2.

Romito A, Lonardo E, Roma G, Minchiotti G, Ballabio A, Cobellis G. Romito A, et al. Among authors: ballabio a. PLoS One. 2010 Feb 3;5(2):e9029. doi: 10.1371/journal.pone.0009029. PLoS One. 2010. PMID: 20140255 Free PMC article.

7

Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides.

Vetrini F, Tammaro R, Bondanza S, Surace EM, Auricchio A, De Luca M, Ballabio A, Marigo V. Vetrini F, et al. Among authors: ballabio a. Hum Mutat. 2006 May;27(5):420-6. doi: 10.1002/humu.20303. Hum Mutat. 2006. PMID: 16550551

8

Tagging genes with cassette-exchange sites.

Cobellis G, Nicolaus G, Iovino M, Romito A, Marra E, Barbarisi M, Sardiello M, Di Giorgio FP, Iovino N, Zollo M, Ballabio A, Cortese R. Cobellis G, et al. Among authors: ballabio a. Nucleic Acids Res. 2005 Mar 1;33(4):e44. doi: 10.1093/nar/gni045. Nucleic Acids Res. 2005. PMID: 15741177 Free PMC article.

9

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: ballabio a. Hum Mutat. 2004 Jun;23(6):576-81. doi: 10.1002/humu.20040. Hum Mutat. 2004. PMID: 15146462

10

Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232.

Meitinger T, Heye B, Petit C, Levilliers J, Golla A, Moraine C, Dalla Piccola B, Sippell WG, Murken J, Ballabio A. Meitinger T, et al. Among authors: ballabio a. Am J Hum Genet. 1990 Oct;47(4):664-9. Am J Hum Genet. 1990. PMID: 1977309 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

454 results

Search Page