Scala I - 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: scala i. Prenat Diagn. 1999 Aug;19(8):771-3. Prenat Diagn. 1999. PMID: 10451527

2

New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia.

Pierri NB, Lecora M, Passariello A, Scala I, Andria G. Pierri NB, et al. Among authors: scala i. Am J Med Genet. 2000 Mar 13;91(2):123-5. doi: 10.1002/(sici)1096-8628(20000313)91:2<123::aid-ajmg8>3.0.co;2-n. Am J Med Genet. 2000. PMID: 10748410

3

How many loci for the His475Tyr polymorphism of the glutamate carboxypeptidase II gene?

Scala I, Sperandeo MP, Fiorito V, Andria G, Sebastio G. Scala I, et al. Am J Med Genet A. 2003 Dec 15;123A(3):314-5. doi: 10.1002/ajmg.a.20331. Am J Med Genet A. 2003. PMID: 14608658 No abstract available.

4

Health implications of homocysteine and folates: possible preventive measures.

Andria G, Scala I, Sebastio G. Andria G, et al. Among authors: scala i. Nutr Metab Cardiovasc Dis. 2005 Apr;15(2):87-93. doi: 10.1016/j.numecd.2005.02.003. Epub 2005 Apr 14. Nutr Metab Cardiovasc Dis. 2005. PMID: 15871856 Review. No abstract available.

5

Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring.

Scala I, Granese B, Sellitto M, Salomè S, Sammartino A, Pepe A, Mastroiacovo P, Sebastio G, Andria G. Scala I, et al. Genet Med. 2006 Jul;8(7):409-16. doi: 10.1097/01.gim.0000228206.21793.82. Genet Med. 2006. PMID: 16845273 Free article.

6

Accumulation of altered aspartyl residues in erythrocyte proteins from patients with Down's syndrome.

Galletti P, De Bonis ML, Sorrentino A, Raimo M, D'Angelo S, Scala I, Andria G, D'Aniello A, Ingrosso D, Zappia V. Galletti P, et al. Among authors: scala i. FEBS J. 2007 Oct;274(20):5263-77. doi: 10.1111/j.1742-4658.2007.06048.x. Epub 2007 Sep 24. FEBS J. 2007. PMID: 17892495 Free article.

7

Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy.

Daniele A, Scala I, Cardillo G, Pennino C, Ungaro C, Sibilio M, Parenti G, Esposito L, Zagari A, Andria G, Salvatore F. Daniele A, et al. Among authors: scala i. FEBS J. 2009 Apr;276(7):2048-59. doi: 10.1111/j.1742-4658.2009.06940.x. FEBS J. 2009. PMID: 19292873 Free article.

8

Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly.

Scala I, Titomanlio L, Del Giudice E, Passemard S, Figliuolo C, Annunziata P, Granese B, Scarpato E, Verloes A, Andria G. Scala I, et al. Am J Med Genet A. 2010 Nov;152A(11):2882-5. doi: 10.1002/ajmg.a.33672. Am J Med Genet A. 2010. PMID: 20949544 No abstract available.

9

Universal screening for inherited metabolic diseases in the neonate (and the fetus).

Scala I, Parenti G, Andria G. Scala I, et al. J Matern Fetal Neonatal Med. 2012 Oct;25(Suppl 5):4-6. doi: 10.3109/14767058.2012.716983. J Matern Fetal Neonatal Med. 2012. PMID: 23025760 Free article. Review.

10

Validation of microarray data in human lymphoblasts shows a role of the ubiquitin-proteasome system and NF-kB in the pathogenesis of Down syndrome.

Granese B, Scala I, Spatuzza C, Valentino A, Coletta M, Vacca RA, De Luca P, Andria G. Granese B, et al. Among authors: scala i. BMC Med Genomics. 2013 Jul 5;6:24. doi: 10.1186/1755-8794-6-24. BMC Med Genomics. 2013. PMID: 23830204 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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

90 results

Search Page

Filters