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<strong>GIUSEPPE</strong> <strong>CASTALDO</strong> - <strong>Curriculum</strong> <strong>vitae</strong> (<strong>sintesi</strong>)<br />

- <strong>Nato</strong> a <strong>Napoli</strong> <strong>il</strong> 22 novembre 1961. Laureato con lode e menzione in Medicina e<br />

Chirurgia e specializzato con lode in Biologia Clinica presso l'Università di <strong>Napoli</strong>.<br />

- Dal 2001 è Professore Ordinario di Biochimica Clinica e Biologia Molecolare Clinica<br />

(BIO/12); dal marzo 2006 è Ordinario di Scienze e Tecniche di Medicina di<br />

Laboratorio (MED/46).<br />

- Dal 2002 al 2006 è Preside della Facoltà di Scienze MFN dell'Università del Molise.<br />

- Dal I novembre 2006 è Professore Ordinario presso la Facoltà di Scienze<br />

Biotecnologiche dell’Università di <strong>Napoli</strong> “Federico II”. Dal I novembre 2007 è<br />

Presidente del Consiglio di Corso di laurea in Biotecnologie per la salute.<br />

- Ha soggiornato presso prestigiose struture di ricerca estere: Baylor College of<br />

Medicine, Houston (Prof. C.T. Caskey); Laboratoire de Biologie Moleculaire,<br />

Université Paris V (Prof. M. Goossens), Centre de Medecine Preventive, University of<br />

Nancy (Prof. G. Siest).<br />

- Ha preso parte, anche come coordinatore, a Unità Operative di Progetti di ricerca<br />

finanziati dal CNR, dal Ministero della Salute, dal MIUR, dall'AIRC, dal Consorzio<br />

Interuniversitario Biotecnologie, dalle Regioni Campania e Molise, dalla Fondazione<br />

Veneta per la Fibrosi Cistica.<br />

- Ha svolto ricerche nel campo della fisiopatologia di sistemi isoenzimatici e del ruolo<br />

diagnostico in patologie dell’uomo. Più di recente si è occupato della diagnostica<br />

molecolare di malattie genetiche ereditarie, dello studio dei meccanismi patogenetici di<br />

mutazioni attraverso analisi di espressione in vitro, e dell'analisi di mRNA espressi da<br />

cellule neoplastiche per la diagnosi precoce di micrometastasi; infine, ha iniziato a<br />

studiare i meccanismi che regolano l’espressione di neurotropine a livello neuronale e i<br />

rapporti con <strong>il</strong> suicidio.<br />

- Da oltre 10 anni ha contribuito allo sv<strong>il</strong>uppo, presso <strong>il</strong> CEINGE-Biotecnologie<br />

avanzate, di un laboratorio di diagnostica molecolare di malattie genetiche ereditarie<br />

dove attualmente vengono studiate (anche a livello prenatale) oltre 50 diverse malattie.<br />

- E' autore di una sessantina di pubblicazioni ospitate su riviste internazionali dotate di<br />

comitato di revisori. Negli ultimi anni è regolermente presente, in qualità di moderatore<br />

e relatore su invito, a Congressi Internazionali nel campo della Biochimica Clinica e<br />

Biologia Molecolare Clinica.


- E’ stato titolare di corsi ufficiali nei settori della Biochimica Clinica e della Biochimica<br />

presso la Facoltà di Scienze dell’Università del Molise (corsi di laurea in Scienze<br />

Ambientali, Scienze Biologiche, Chimica), la Facoltà di Medicina dell’Università di<br />

<strong>Napoli</strong>, la Facoltà di Medicina Veterinaria dell’Università di <strong>Napoli</strong>, la Facoltà di<br />

Biotecnologie dell’Università di <strong>Napoli</strong>, la Facoltà di Medicina dell’Università di Gulu<br />

(Uganda).<br />

- E’ consulente scientifico del CEINGE-Biotecnologie avanzate di <strong>Napoli</strong> e direttore<br />

scientifico della Fondazione CEINGE; membro del comitato scientifico del Parco<br />

Scientifico e Tecnologico di <strong>Napoli</strong>; componente dell’albo degli esperti del CIVR<br />

(Comitato d’indirizzo per la valutazione della ricerca universitaria); componente della<br />

Commissione scientifica, Componente (già coordinatore) del gds “Applicazioni<br />

diagnostiche della Biologia Molecolare” e delegato regionale (Campania) della Società<br />

Italiana di Biochimica Clinica; componente del Direttivo regionale della Società<br />

Italiana di Pediatria Preventiva e Sociale (SIPPS); membro dell’American Association<br />

of Clinical Chemistry (AACC).<br />

Pubblicazioni su riviste internazionali<br />

1) Sacchetti L, Castaldo G, Salvatore F.<br />

The gamma-glutamyltransferase isoenzyme pattern in serum as a signal discriminating<br />

between hepatob<strong>il</strong>iary diseases, including neoplasias.<br />

Clin Chem. 1988;34:352-5.<br />

ISSN: 0009-9147 (I.F. 2008: 5.579)<br />

2) Sacchetti L, Castaldo G, Fortunato G, Salvatore F.<br />

Improved procedure for measuring gamma-glutamyltrasnferase isoenzyme in serum.<br />

Clin Chem. 1988;34:419-22.<br />

ISSN: 0009-9147 (I.F. 2008: 5.579)<br />

3) Sacchetti L, Castaldo G, Cimino L, Bud<strong>il</strong>lon G, Salvatore F.<br />

Diagnostic efficiency in discriminating liver malignancies from cirrhosis by serum gammaglutamyltransferase<br />

isoforms.<br />

Clin Chim Acta 1988;177:167-72.<br />

ISSN: 0009-8981 (I.F. 2008: 2.960)<br />

4) Sacchetti L, Castaldo G, Salvatore F.<br />

Electrophoretic behaviour and partial characterization of disease-associated serum forms of<br />

gamma-glutamyltransferase.<br />

Electrophoresis 1989;10:619-27.<br />

ISSN: 0173-0835 (I.F. 2008: 3.509)


5) Castaldo G, Salvatore F, Sacchetti L.<br />

Serum type 2 macro creatine-kinase isoenzyme is not a useful marker of severe liver diseases<br />

or neoplasia.<br />

Clin Biochem. 1990;23:523-7<br />

ISSN: 0009-9120 (I.F. 2008: 1.926)<br />

6) Castaldo G, Oriani G, Cimino L, Topa M, Bud<strong>il</strong>lon G, Salvatore F, Sacchetti L.<br />

Serum lactate dehydrogenase isoenzyme 4/5 ratio discriminates between hepatocarcinoma and<br />

secondary liver neoplasia.<br />

Clin Chem. 1991;37:1419-23<br />

ISSN: 0009-9147 (I.F. 2008: 5.579)<br />

7) D'Arienzo A, Celentano L, Cimino L, Panarese A, Lancia C, Vergara E, Castaldo G, Oriani<br />

G, Squame G, Bud<strong>il</strong>lon G, Mazzacca G.<br />

Per-rectal portal scintigraphy with technetium 99m pertechnetate for the early diagnosis of<br />

cirrhosis in patients with chronic hepatitis.<br />

J Hepatol. 1992;14:188-93.<br />

ISSN: 0168-8278 (I.F. 2008: 7.056)<br />

8) Castaldo G, Oriani G, Cimino L, Topa M, Mostarda I, Castellano L, Del Vecchio Blanco C,<br />

Bud<strong>il</strong>lon G, Salvatore F, Sacchetti L.<br />

Total discrimination of peritoneal malignant ascites from cirrhosis and hepatocarcinoma<br />

associated ascites by assays of ascitic cholesterol and lactate dehydrogenase.<br />

Clin Chem. 1994;40:478-83.<br />

ISSN: 0009-9147 (I.F. 2008: 5.579)<br />

9) Raymond FD, Fortunato G, Moss DW, Castaldo G. Salvatore F, Impallomeni M.<br />

Inositol-specific phospholipase D activity in health and disease.<br />

Clin Sci. 1994;86:447-51.<br />

ISSN: 0143-5221 (I.F. 2008: 4.187)<br />

10) Castaldo G, Oriani G, Cimino L, Topa M, Bud<strong>il</strong>lon G, Salvatore F, Sacchetti L.<br />

Discriminant function based on biochemical serum analytes differentiates hepatocarcinoma<br />

from secondary liver neoplasia.<br />

Clin Chem. 1995;41:439-43.<br />

ISSN: 0009-9147 (I.F. 2008: 5.579)<br />

11) Castaldo G, Castellano L, De Sio I, Mostarda I, Cimino L, Bud<strong>il</strong>lon G, Sacchetti L, Lo<br />

Guercio C, Del Vecchio Blanco C, Salvatore F.<br />

Early biochemical evidence of neoplasm in a case of ascites of unknown origin.<br />

Clin Chem. 1995;41:1203-4.<br />

ISSN: 0009-9147 (I.F. 2008: 5.579)<br />

12) Castaldo G, Rippa E, Raia V, Salvatore D, Massa C, De Ritis G, Salvatore F.<br />

Clinical features of cystic fibrosis patients with rare genotypes.<br />

J Med Genet. 1996;33:73-6.<br />

ISSN: 0022-2593 (I.F. 2008: 5.713)


13) Castaldo G, Rippa E, Sebastio G, Raia V, Ercolini P, De Ritis G, Salvatore D, Salvatore F.<br />

Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated<br />

with an improved semiautomated robotic procedure.<br />

J Med Genet. 1996;33:475-9<br />

ISSN: 1468-6244 (I.F. 2008: 5.713)<br />

14) Castaldo G, Oriani G, Lofrano MM, Cimino L, Topa M, Bud<strong>il</strong>lon G, Salvatore F, Sacchetti<br />

L.<br />

Differential diagnosis between hepatocellular carcinoma and cirrhosis through a discriminant<br />

function based on results from serum analytes.<br />

Clin Chem. 1996;42:1263-9.<br />

ISSN: 0009-9147 (I.F. 2008: 5.579)<br />

15) Castaldo G, Intrieri M, Calcagno G, Cimino L, Bud<strong>il</strong>lon G, Sacchetti L, Salvatore F.<br />

Ascitic pseudouridine discriminates between hepatocarcinoma-derived ascites and cirrhotic<br />

ascites.<br />

Clin Chem. 1996;42:1843-6.<br />

ISSN: 0009-9147 (I.F. 2008: 5.579)<br />

16) Salvatore F, Sacchetti L, Castaldo G.<br />

Multivariate discriminant analysis of biochemical parameters for the differentiation of<br />

clinically confounding liver diseases.<br />

Clin Chim Acta 1997;257:41-58. Review.<br />

ISSN: 0009-8981 (I.F. 2008: 2.960)<br />

17) Castaldo G., Rippa E., Salvatore D., Sib<strong>il</strong>lo R., Raia V., de Ritis G., Salvatore F.<br />

Severe liver impairment in a cystic fibrosis-affected ch<strong>il</strong>d homozygous for the G542X<br />

mutation.<br />

Am J Med Genet. 1997;69:155-8.<br />

ISSN: 0148-7299 (I.F. 2008: 2.555)<br />

18) Rendine S, Calafell F, …, Salvatore F, Castaldo G, ..., Piazza A.<br />

Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution.<br />

Ann Hum Genet. 1997;61:411-24.<br />

ISSN: 0003-4800 (I.F. 2008: 2.195)<br />

19) Castaldo G, Cecere G, Di Fusco V, Prezioso D, D’Armiento M, Salvatore F.<br />

Prostate specific antigen (protein and mRNA) analysis in the differential diagnosis and staging<br />

of prostate cancer.<br />

Clin Chim Acta 1997;265:65-76.<br />

ISSN: 0009-8981 (I.F. 2008: 2.960)<br />

20) Castaldo G, Tomaiuolo R, Sanduzzi A, Bocchino ML, Ponticiello A, Barra E, Vitale D,<br />

Bariffi F, Sacchetti L, Salvatore F.<br />

Lung cancer metastatic cells detected in blood by reverse transcriptase-polymerase chain<br />

reaction and dot-blot analysis.<br />

J Clin Oncol. 1997;15:3388-93.<br />

ISSN: 0732-183X (I.F. 2008: 17.157)


21) Castaldo G, Fuccio A, Cazeneuve C, Picci L, Salvatore D, Raia V, Scarpa M, Goossens M,<br />

Salvatore F.<br />

Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in<br />

screening for the disease and phenotype characterization for patients with homozygote<br />

mutations.<br />

Clin Chem. 1999;45:957-62.<br />

ISSN: 0009-9147 (I.F. 2008: 5.579)<br />

22) Castaldo G, Intrieri M, Castellano L, De Sio I, Del Vecchio Blanco C, Sacchetti L, Salvatore<br />

F.<br />

Serum gamma-glutam<strong>il</strong>transferase isoform complexed to LDL in the diagnosis of small<br />

hepatocellular carcinoma.<br />

Clin Chem. 1999;45:1100-2<br />

ISSN: 0009-9147 (I.F. 2008: 5.579)<br />

23) Castaldo G, Fuccio A, Cazeneuve C, Picci L, Salvatore D, Scarpa M, Goossens M,<br />

Salvatore F.<br />

A novel nonsense mutation (Y849X) in the CFTR gene of a patient from Southern Italy.<br />

Hum Mutat. 1999;14:272<br />

ISSN: 1059-7794 (I.F. 2008: 7.033)<br />

24) Castaldo G, Martinelli P, Massa C, Fuccio A, Grosso M, Rippa E, Paladini D, Salvatore F.<br />

Prenatal diagnosis of cystic fibrosis: a case of twin pregnancy diagnosis and a review of 5 years’<br />

experience.<br />

Clin Chim Acta 2000;298:121-33. Review.<br />

ISSN: 0009-8981 (I.F. 2008: 2.960)<br />

25) Castaldo G, Calcagno G, Sib<strong>il</strong>lo R, Cuomo R, Nardone G, Castellano L, Del Vecchio Blanco<br />

C, Bud<strong>il</strong>lon G, Salvatore F.<br />

Quantitative analysis of aldolase A mRNA in liver discriminates between hepatocellular<br />

carcinoma and cirrhosis.<br />

Clin Chem. 2000;46:901-6.<br />

ISSN: 0009-9147 (I.F. 2008: 5.579)<br />

26) Castaldo G, Fuccio A, Salvatore D, Raia V, Santostasi T, Leonardi S, Lizzi N, La Rosa M,<br />

Rig<strong>il</strong>lo N, Salvatore F.<br />

Liver expression in Cystic Fibrosis could be modulated by genetic factors different from the<br />

Cystic Fibrosis Transmembrane Regulator genotype.<br />

Am J Med Genet. 2001;98:294-7.<br />

ISSN: 0148-7299 (I.F. 2008: 2.555)<br />

27) Fortunato G, Castaldo G, Oriani G, Cerini R, Intrieri M, Molinaro E, Gent<strong>il</strong>e I, Borgia G,<br />

Piazza M, Salvatore F, Sacchetti L.<br />

Multivariate discriminant function based on six biochemical markers in blood can predict the<br />

cirrhotic evolution of chronic hepatitis.<br />

Clin Chem. 2001;47:1696-700.<br />

ISSN: 0009-9147 (I.F. 2008: 5.579)


28) Salvatore F, Scudiero O, Castaldo G.<br />

Genotype-phenotype correlation in Cystic Fibrosis: the role of modifier genes.<br />

Am J Med Genet. 2002;111:88-95. Review<br />

ISSN: 0148-7299 (I.F. 2008: 2.555)<br />

29) Tomaiuolo R, Spina M, Castaldo G.<br />

Molecular diagnosis of Cystic Fibrosis: comparison of four analytical procedures.<br />

Clin Chem Lab Med. 2003;41:26-32.<br />

ISSN: 1434-6621 (I.F. 2008: 1.888)<br />

30) Castaldo G, Nardiello P, Bellitti F, Rocino A, Coppola A, Di Minno G, Salvatore F.<br />

Denaturing HPLC procedure for factor IX gene scanning.<br />

Clin Chem. 2003;49:815-8.<br />

ISSN: 0009-9147 (I.F. 2008: 5.579)<br />

31) Castaldo G, Nardiello P, Bellitti F, Santamaria R, Rocino A, Coppola A, Di Minno G,<br />

Salvatore F.<br />

Haemoph<strong>il</strong>ia B: from molecular diagnosis to gene therapy<br />

Clin Chem Lab Med. 2003;41:445-51. Review<br />

ISSN: 1434-6621 (I.F. 2008: 1.888)<br />

32) De Simone R, Fior<strong>il</strong>lo C, Bonuso S, Castaldo G.<br />

A Cluster Headache fam<strong>il</strong>y with possible autosomal recessive inheritance.<br />

Neurology 2003;61:578-9.<br />

ISSN: 0028-3878 (I.F. 2008: 7.043)<br />

33) Castaldo G, Tomaiuolo R, Sanduzzi A, Ponticiello A, Marchetiello I, Salvatore F.<br />

Carcinoembryonic antigen mRNA analysis detects micrometastatic cells in blood from lung<br />

cancer patients.<br />

Eur Respir J. 2003;22:418-21.<br />

ISSN: 0903-1936 (I.F. 2008: 5.545)<br />

34) Berni Canani R, Terrin G, Cir<strong>il</strong>lo P, Castaldo G, Salvatore F, Card<strong>il</strong>lo G, Coruzzo A,<br />

Troncone A.<br />

Butyrate as an effective treatment of congenital chloride diarrea.<br />

Gastroenterology 2004;127:630-4.<br />

ISSN: 0016-5085 (I.F. 2008: 12.591)<br />

35) Taruscio D, Falbo V, Floridia G, Salvatore M, Pescucci C, Cantafora A, Marongiu C,<br />

Baroncini A, Calzolari E, Cao A, Castaldo G, Dagna Bricarelli F, Guanti G, Nitsch L, Pignatti<br />

PF, Rosatelli C, Salvatore F, Zuffardi O.<br />

Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian<br />

project on standardisation and quality assurance.<br />

Clin Chem Lab Med 2004;42:915-21<br />

ISSN: 1434-6621 (I.F. 2008: 1.888)


36) Di Micco P, Niglio A, Scudiero O, Bonamassa B, Martinelli I, Di Fiore R, Castaldo G,<br />

Salvatore F.<br />

A case of Buerger’s disease with MTHFR C 677 T mutation homozygosity: a possible<br />

therapeutic support. Nutr Metab Cardiovasc Dis. 2004;14:225-6. ISSN: 0939-4753 (I.F. 2008:<br />

3.565)<br />

37) Di Micco P, Niglio A, De Renzo A, Lucania A, Di Fiore R, Scudiero O, Castaldo G.<br />

Congenital and acquired risk factors in lymphoma patients bearing upper extremities deep<br />

venous thrombosis: a preliminary report.<br />

J Transl Med. 2004;22:7 (I.F. 2008: 2.917)<br />

ISSN: 1479-5876<br />

38) Salvatore D, Tomaiuolo R, Abate R, Vanacore B, Manieri S, Mirauda MP, Scavone A,<br />

Schiavo MV, Castaldo G, Salvatore F.<br />

Cystic fibrosis presenting as metabolic alkalosis with hypochloremia in a boy with the rare<br />

D579G mutation.<br />

J Cyst Fibrosis 2004;3:135-6.<br />

ISSN: 1569-1993 (I.F. 2008: 1.550)<br />

39) Castaldo G, Polizzi A, Tomaiuolo R, Cazeneuve C, Girodon E, Santostasi T, Salvatore D,<br />

Raia V, Rig<strong>il</strong>lo N, Goossens M, Salvatore F.<br />

Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in<br />

southern Italy population.<br />

Ann Hum Genet. 2005;69:15-24.<br />

ISSN: 0003-4800 (I.F. 2008: 2.195)<br />

40) Polizzi A, Francav<strong>il</strong>la R, Castaldo G, Santostasi T, Tomaiuolo R, Manca A, De Robertis F,<br />

Mappa L, Oliverio FP, Salvatore F, Rig<strong>il</strong>lo N.<br />

Phenotypic expression of genotype-phenotype correlation in cystic fibrosis patients carrying<br />

the 852del22 mutation.<br />

Am J Med Genet A. 2005;132:434-40.<br />

ISSN: 1552-4825 (I.F. 2008: 2.555)<br />

41) Salvatore D, Tomaiuolo R, Vanacore B, Elce A, Castaldo G, Salvatore F.<br />

Isolated elevated sweat chloride concentrations in the presence of the rare mutation S1455X:<br />

an extremely m<strong>il</strong>d form of CFTR dysfunction.<br />

Am J Med Genet A. 2005;133:207-8.<br />

ISSN: 1552-4825 (I.F. 2008: 2.555)<br />

42) Vankeerberghen A, Scudiero O, Salvatore F, Macek M, Castaldo G, Pignatti PF, De Boeck<br />

K, Cassiman JJ, Cuppens H.<br />

Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis<br />

populations.<br />

Genomics 2005;85:574-81.<br />

ISSN: 0888-7543 (I.F. 2008: 3.075)<br />

43) Belvini D, Salviato R, Radossi P, Pierobon F, Mori PG, Castaldo G, Tagariello G. and the<br />

AICE HB study group.<br />

Molecular genotyping of the Italian cohort of patients with haemoph<strong>il</strong>ia B.<br />

Haematologica 2005;90:635-42.ISSN: 0390-6078 (I.F. 2008: 5.978)


44) Scudiero O, Nardone G, Omodei D, Tatangelo F, Vitale DF, Salvatore F, Castaldo G.<br />

A mannose-binding lectin defective haplotype is a risk factor for gastric cancer.<br />

Clin Chem 2006;52:1625-7.<br />

ISSN: 0009-9147 (I.F. 2008: 5.579)<br />

45) Daniele A, Card<strong>il</strong>lo G, Pennino C, Carbone MT, Scognamiglio D, Correra A, Pignero A,<br />

Castaldo G, Salvatore F.<br />

Molecular epidemiology of phenylalanine hydrox<strong>il</strong>ase deficiency in Southern Italy: a 96%<br />

detection rate with ten novel mutations.<br />

Ann Hum Genet. 2007;71:185-93.<br />

ISSN: 0003-4800 (I.F. 2008: 2.195)<br />

46) Castaldo G, Tomaiuolo R, Vanacore B, Ferrara P, Del Vecchio S, Carnovale V, Abete P,<br />

Rengo F, Salvatore F.<br />

Phenotypic discordance in three siblings affected by atypical cystic fibrosis with the<br />

f508del/D614G genotype.<br />

J Cyst Fibros 2006;5:193-5<br />

ISSN: 1569-1993 (I.F. 2008: 1.550)<br />

47) Castaldo G, D’Argenio V, Nardiello P, Zarr<strong>il</strong>li F, Sanna V, Rocino A, Coppola A, Di Minno<br />

G, Salvatore F.<br />

Haemoph<strong>il</strong>ia A: molecular insights.<br />

Clin Chem Lab Med. 2007;45:450-61. Review.<br />

ISSN: 1434-6621 (I.F. 2008: 1.888)<br />

48) Salvatore M, Falbo V, Floridia G, Censi F, Tosto F, Bombieri C, Castaldo G, Pignatti PF,<br />

Taruscio D.<br />

The Italian external quality control programme for cystic fibrosis molecular diagnosis: four<br />

years of activity.<br />

Clin Chem Lab Med. 2007;45:254-60.<br />

ISSN: 1434-6621 (I.F. 2008: 1.888)<br />

49) Di Micco P, D’Uva M, Strina I, De Placido G, Di Fiore R, Quaranta S, Castaldo G.<br />

Recurrent pregnancy loss and thromboph<strong>il</strong>ia.<br />

Clin Lab 2007;53:309-14.<br />

ISSN: 1433-6510 (I.F. 2008: 1.261)<br />

50) Margaglione M, Castaman GC, Morfini M, Rocino A, Santagostino E, Tagariello G,<br />

Tagliaferri AR, Zanon E, Bicocchi MP, Castaldo G, Peyvandi F, Santacroce R, Torricelli F,<br />

Grandone E, Mannucci PM, and the AICE-Genetics Study Group.<br />

The Italian AICE-Genetics Hemoph<strong>il</strong>ia A database: results and correlation with clinical<br />

phenotype.<br />

Haematologica 2008;93:722-8<br />

ISSN: 0390-6078 (I.F. 2008: 5.978)


51) Santacroce R, Acqu<strong>il</strong>a M, Belvini D, Castaldo G, Garagiola I, Giacomelli SH, Lombardi<br />

AM, Minuti B, Riccardi F, Salviato R, Tagliabue L, Grandone E, Margaglione M. and the<br />

AICE-Genetics Study Group.<br />

Identification of 217 unreported mutations in the F8 gene 3 in a group of 1,410 unselected<br />

Italian patients with hemoph<strong>il</strong>ia A<br />

J Hum Genet 2008;53:275-8<br />

ISSN: 1434-5161 (I.F. 2008: 2.431)<br />

52) Daniele A, Card<strong>il</strong>lo G, Pennino C, Carbone MT, Scognamiglio D, Esposito L, Correra A,<br />

Castaldo G, Zagari A, Salvatore F.<br />

Five human phenylalanine hydroxylase proteins identified in m<strong>il</strong>d hyperphenylalaninemia<br />

patients are disease-causing variants.<br />

Biochem Biophys Acta 2008;1782:378-84<br />

ISSN: 0925-4439 (I.F. 2008: 4.579)<br />

53) Sanna V, Zarr<strong>il</strong>li F, Nardiello P, D'Argenio V, Rocino A, Coppola A, Di Minno G,<br />

Castaldo G.<br />

Mutational spectrum of F8 gene and prothrombotic gene variants in haemoph<strong>il</strong>ia A patients<br />

from Southern Italy.<br />

Haemoph<strong>il</strong>ia 2008;14:796-803.<br />

ISSN: 1531-8216 (I.F. 2008: 2.394)<br />

54) Di Micco P, Di Fiore R, Niglio A, Quaranta S, Angiol<strong>il</strong>lo A, Card<strong>il</strong>lo G, Castaldo G.<br />

Different outcome of six homozygotes for prothrombin A20210A gene variant.<br />

J Translat Med 2008;6:36.<br />

ISSN: 1479-5876 (I.F. 2008: 2.917)<br />

55) Tomaiuolo R, Sangiuolo F, Bombieri C, Bonizzato A, Card<strong>il</strong>lo G, Raia V, D’Apice MR,<br />

Bettin MD, Pignatti PF, Castaldo G, Novelli G.<br />

Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in<br />

classic and atypical CF patients: a multicentric Italian study<br />

J Cyst Fibrosis 2008;7:347-51.<br />

ISSN: 1569-1993 (I.F. 2008: 1.550)<br />

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