IRIS

SCALA, IRIS

SCALA, IRIS  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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Titolo Tipologia Data di pubblicazione Autore(i) File
Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring. 1.1 Articolo in rivista 2006 Scala, Iris; Granese, B; Sellitto, M; Salom, S; Sammartino, A; Pepe, A; Mastroiacovo, P; Sebastio, Gianfranco; Andria, Generoso
Frequency of the mutation 677C-T of methylenetetrahydrofolate reductase gene on a sample of 652 Spanish liveborn infants 1.1 Articolo in rivista 2004 MARTINEZ FRIAS, Ml; Bermejo, E; RODRIGUEZ PINILLA, E; Scala, Iris; Andria, Generoso; Botto, L.
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report. 1.1 Articolo in rivista 1999 Sperandeo, Mp; Buoninconti, A; Passariello, A; Scala, Iris; Adami, A; Lauteala, T; Mykkänen, J; Andria, Generoso; Sebastio, G.
Health implications of homocysteine and folates: possible preventive measures. 1.1 Articolo in rivista 2005 Andria, Generoso; Scala, Iris; Sebastio, Gianfranco
Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy 1.1 Articolo in rivista 2009 Daniele, A.; Scala, Iris; Cardillo, G.; Pennino, C.; Ungaro, C.; Sibilio, M.; Parenti, Giancarlo; Esposito, L; Zagari, Adriana; Andria, Generoso; Salvatore, Francesco
Accumulation of altered aspartyl residues in erythrocyte proteins from patients with Down's syndrome. 1.1 Articolo in rivista 2007 Galletti, P; DE BONIS, Ml; Sorrentino, A; Raimo, M; D'Angelo, S; Scala, Iris; Andria, Generoso; D'Aniello, A; Ingrosso, D; Zappia, Vincenzo
folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women. 1.1 Articolo in rivista 2007 Scala, Iris; Granese, B; Lisi, A; Mastroiacovo, P; Andria, Generoso
Response to Folate Gene Polymorphisms and the Risk of Down Syndrome Pregnancies in Young Italian Women 1.1 Articolo in rivista 2006 Scala, Iris; Granese, B; Lisi, A; Mastroiacovo, P; Andria, Generoso
Impairment of methyl cycle affects mitochondrial methyl availability andglutathione level in Down's syndrome 1.1 Articolo in rivista 2010 Scala, Iris; Andria, Generoso
Genetic risk factors for neural tube defects: folic acid supplementation and prevention of birth defects 2.1 Contributo in volume (Capitolo o Saggio) 2006 Andria, Generoso; Scala, Iris
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations 1.1 Articolo in rivista 2009 Passemard, S; Titomanlio, L; Elmaleh, M; Afenjar, A; Alessandri, Jl; Andria, Generoso; de Villemeur, Tb; Boespflug Tanguy, O; Burglen, L; DEL GIUDICE, Ennio; Guimiot, F; Hyon, C; Isidor, B; Mégarbané, A; Moog, U; Odent, S; Hernandez, K; Pouvreau, N; Scala, Iris; Schaer, M; Gressens, P; Gerard, B; Verloes, A.
Universal screening for inherited metabolic diseases in the neonate (and the fetus) 1.1 Articolo in rivista 2012 Scala, Iris; Parenti, Giancarlo; Andria, Generoso
New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia 1.1 Articolo in rivista 2000 Pierri, Nicola Brunetti; Lecora, Margherita; Passariello, Annalisa; Scala, Iris; Andria, Generoso
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: A case report 1.1 Articolo in rivista 1999 Sperandeo, Maria Pia; Buoninconti, Anna; Passariello, Annalisa; Scala, Iris; Adami, Andrea; Lauteala, Tuija; Mykkänen, Juha; Andria, Generoso; Sebastio, Gianfranco
Prospective evaluation of autoimmune and non-autoimmune subclinical hypothyroidism in down syndrome children 1.1 Articolo in rivista 2020 Pepe, G.; Corica, D.; de Sanctis, L.; Salerno, M.; Faienza, M. F.; Tessaris, D.; Tuli, G.; Scala, I.; Penta, L.; Alibrandi, A.; Pajno, G. B.; Aversa, T.; Wasniewska, M.
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience. 1.1 Articolo in rivista 2015 Scala, I.; Concolino, D.; Della Casa, R.; Nastasi, A.; Ungaro, C.; Paladino, S.; Capaldo, B.; Ruoppolo, M.; Daniele, A.; Bonapace, G.; Strisciuglio, P.; Parenti, G.; Andria, G.
FKBP51 increases the tumour-promoter potential of TGF-beta 1.1 Articolo in rivista 2014 Romano, Simona; Anna, D'Angelillo; Paolo, D'Arrigo; Staibano, Stefania; Greco, Adelaide; Brunetti, Arturo; Scalvenzi, Massimiliano; Bisogni, Rita; Scala, Iris; Romano, MARIA FIAMMETTA
Large neutral amino acids (Lnaas) supplementation improves neuropsychological performances in adult patients with phenylketonuria 1.1 Articolo in rivista 2020 Scala, I.; Riccio, M. P.; Marino, M.; Bravaccio, C.; Parenti, G.; Strisciuglio, P.
Epigallocatechin-3-gallate plus omega-3 restores the mitochondrial complex i and f0 f1-atp synthase activities in pbmcs of young children with down syndrome: A pilot study of safety and efficacy 1.1 Articolo in rivista 2021 Scala, I.; Valenti, D.; D'Aniello, V. S.; Marino, M.; Riccio, M. P.; Bravaccio, C.; Vacca, R. A.; Strisciuglio, P.
Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report 1.1 Articolo in rivista 2021 Donnarumma, B.; Riccio, M. P.; Terrone, G.; Palma, M.; Strisciuglio, P.; Scala, I.