Sebastio G - Search Results

1

Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report.

Sperandeo MP, Buoninconti A, Passariello A, Scala I, Adami A, Lauteala T, Mykkänen J, Andria G, Sebastio G. Sperandeo MP, et al. Among authors: sebastio g. Prenat Diagn. 1999 Aug;19(8):771-3. Prenat Diagn. 1999. PMID: 10451527

2

A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance.

Sperandeo MP, Paladino S, Maiuri L, Maroupulos GD, Zurzolo C, Taglialatela M, Andria G, Sebastio G. Sperandeo MP, et al. Among authors: sebastio g. Eur J Hum Genet. 2005 May;13(5):628-34. doi: 10.1038/sj.ejhg.5201376. Eur J Hum Genet. 2005. PMID: 15756301

3

Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.

Sperandeo MP, Andria G, Sebastio G. Sperandeo MP, et al. Among authors: sebastio g. Hum Mutat. 2008 Jan;29(1):14-21. doi: 10.1002/humu.20589. Hum Mutat. 2008. PMID: 17764084 Review.

4

Lysinuric protein intolerance: reviewing concepts on a multisystem disease.

Sebastio G, Sperandeo MP, Andria G. Sebastio G, et al. Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):54-62. doi: 10.1002/ajmg.c.30287. Epub 2011 Feb 9. Am J Med Genet C Semin Med Genet. 2011. PMID: 21308987 Review.

5

Genetic homogeneity of lysinuric protein intolerance.

Lauteala T, Mykkänen J, Sperandeo MP, Gasparini P, Savontaus ML, Simell O, Andria G, Sebastio G, Aula P. Lauteala T, et al. Among authors: sebastio g. Eur J Hum Genet. 1998 Nov-Dec;6(6):612-5. doi: 10.1038/sj.ejhg.5200236. Eur J Hum Genet. 1998. PMID: 9887380

6

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.

Sperandeo MP, Bassi MT, Riboni M, Parenti G, Buoninconti A, Manzoni M, Incerti B, Larocca MR, Di Rocco M, Strisciuglio P, Dianzani I, Parini R, Candito M, Endo F, Ballabio A, Andria G, Sebastio G, Borsani G. Sperandeo MP, et al. Among authors: sebastio g. Am J Hum Genet. 2000 Jan;66(1):92-9. doi: 10.1086/302700. Am J Hum Genet. 2000. PMID: 10631139 Free PMC article.

7

Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course.

Parenti G, Sebastio G, Strisciuglio P, Incerti B, Pecoraro C, Terracciano L, Andria G. Parenti G, et al. Among authors: sebastio g. J Pediatr. 1995 Feb;126(2):246-51. doi: 10.1016/s0022-3476(95)70552-x. J Pediatr. 1995. PMID: 7844671 Review.

8

Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance.

Santamaria F, Brancaccio G, Parenti G, Francalanci P, Squitieri C, Sebastio G, Dionisi-Vici C, D'argenio P, Andria G, Parisi F. Santamaria F, et al. Among authors: sebastio g. J Pediatr. 2004 Aug;145(2):268-72. doi: 10.1016/j.jpeds.2004.04.047. J Pediatr. 2004. PMID: 15289783

9

Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.

Sperandeo MP, Annunziata P, Ammendola V, Fiorito V, Pepe A, Soldovieri MV, Taglialatela M, Andria G, Sebastio G. Sperandeo MP, et al. Among authors: sebastio g. Hum Mutat. 2005 Apr;25(4):410. doi: 10.1002/humu.9323. Hum Mutat. 2005. PMID: 15776427

10

Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance.

Sperandeo MP, Annunziata P, Bozzato A, Piccolo P, Maiuri L, D'Armiento M, Ballabio A, Corso G, Andria G, Borsani G, Sebastio G. Sperandeo MP, et al. Among authors: sebastio g. Am J Physiol Cell Physiol. 2007 Jul;293(1):C191-8. doi: 10.1152/ajpcell.00583.2006. Epub 2007 Mar 21. Am J Physiol Cell Physiol. 2007. PMID: 17376816 Free article.

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