Scala I - Search Results

1

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

2

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

3

Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide.

Wilcken B, Bamforth F, Li Z, Zhu H, Ritvanen A, Renlund M, Stoll C, Alembik Y, Dott B, Czeizel AE, Gelman-Kohan Z, Scarano G, Bianca S, Ettore G, Tenconi R, Bellato S, Scala I, Mutchinick OM, López MA, de Walle H, Hofstra R, Joutchenko L, Kavteladze L, Bermejo E, Martínez-Frías ML, Gallagher M, Erickson JD, Vollset SE, Mastroiacovo P, Andria G, Botto LD. Wilcken B, et al. Among authors: scala i. J Med Genet. 2003 Aug;40(8):619-25. doi: 10.1136/jmg.40.8.619. J Med Genet. 2003. PMID: 12920077 Free PMC article. No abstract available.

4

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.

5

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.

6

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.

7

Re: folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women.

Scala I, Granese B, Lisi A, Mastroiacovo P, Andria G. Scala I, et al. Am J Med Genet A. 2007 May 1;143A(9):1015-7; discussion 1018-9. doi: 10.1002/ajmg.a.31693. Am J Med Genet A. 2007. PMID: 17431899 No abstract available.

8

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.

9

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.

10

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Mégarbané A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A. Passemard S, et al. Among authors: scala i. Neurology. 2009 Sep 22;73(12):962-9. doi: 10.1212/WNL.0b013e3181b8799a. Neurology. 2009. PMID: 19770472

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