Scala I - Search Results

1

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

2

FKBP51 increases the tumour-promoter potential of TGF-beta.

Romano S, D'Angelillo A, D'Arrigo P, Staibano S, Greco A, Brunetti A, Scalvenzi M, Bisogni R, Scala I, Romano MF. Romano S, et al. Among authors: scala i. Clin Transl Med. 2014 Jan 27;3(1):1. doi: 10.1186/2001-1326-3-1. Clin Transl Med. 2014. PMID: 24460977 Free PMC article.

3

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

4

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.

5

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.

6

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.

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

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.

9

[Frequency of the mutation 677C-T of methylenetetrahydrofolate reductase gene on a sample of 652 Spanish liveborn infants].

Martínez-Frías ML, Bermejo E, Rodríguez-Pinilla E, Scala I, Andria G, Botto L; Grupo de Trabajo del ECEMC. Martínez-Frías ML, et al. Among authors: scala i. Med Clin (Barc). 2004 Mar 20;122(10):361-4. doi: 10.1016/s0025-7753(04)74243-8. Med Clin (Barc). 2004. PMID: 15033038 Spanish.

10

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.

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