LARSEN SYNDROME IN TWO GENERATIONS OF AN ITALIAN FAMILY.VENTRUTO V; FESTA B; SEBASTIO L et al.1976; J. MED. GENET.; G.B.; DA. 1976; VOL. 13; NO 6; PP. 538-539; BIBL. 8 REF.Article

ARGININE SUPPLEMENTATION IN LYSINURIC PROTEIN INTOLERANCEANDRIA G; SEBASTIO G; SARTORIO R et al.1982; J. INHERIT. METAB. DIS.; ISSN 0141-8955; GBR; DA. 1982; VOL. 5; SUPPL. 1; PP. 61-62; BIBL. 10 REF.Article

Regulation of alternative splicing in the IIICS region of human fibronectin pre-mRNA encoding cell binding sites CS1 and CS5MARDON, H. J; SEBASTIO, G.Journal of Cell Science. 1992, Vol 103, pp 423-433, issn 0021-9533, 2Article

Sequence analysis and in vivo expression show that alternative splicing of ED-B and ED-A regions of the human fibronectin gene are independent eventsPAOLELLA, G; HENCHCLIFFE, C; SEBASTIO, G et al.Nucleic acids research. 1988, Vol 16, Num 8, pp 3545-3557, issn 0305-1048Article

A role for exon sequences in alternative splicing of the human fibronectin geneMARDON, H. J; SEBASTIO, G; BARALLE, F. E et al.Nucleic acids research. 1987, Vol 15, Num 19, pp 7725-7733, issn 0305-1048Article

Identification of a novel mutation (Leu 256→Pro) in the human aldolase B gene associated with hereditary fructose intoleranceALI, M; SEBASTIO, G; COX, T. M et al.Human molecular genetics (Print). 1994, Vol 3, Num 1, pp 203-204, issn 0964-6906Article

LEPRECHAUNISM WITH MOSAICISM 46,XX/47,XX EXTRA RING CHROMOSOME.VENTRUTO V; SEBASTIO L; SEBASTIO G et al.1977; J. MED. GENET.; G.B.; DA. 1977; VOL. 14; NO 5; PP. 383-386; BIBL. 11 REF.Article

FAMILY STUDY OF INHERITED SYNDROME WITH MULTIPLE CONGENITAL DEFORMITIES: SYMPHALANGISM, CORPAL AND TORSAL FUSION, BRACHYDACTYLY, CRANIOSYNOSTOSIS, STRABISMUS, HIP OSTEOCHONDRITIS.VENTRUTO V; DI GIROLAMO R; FESTA B et al.1976; J. MED. GENET.; G.B.; DA. 1976; VOL. 13; NO 5; PP. 394-398; BIBL. 5 REF.Article

Molecular analysis of aldolase B genes in hereditary fructose intoleranceCROSS, N. C. P; DE FRANCHIS, R; ROMANO, C et al.Lancet (British edition). 1990, Vol 335, Num 8685, pp 306-309, issn 0140-6736Article

SINDROME DI PATAU CON SINGOLARE MOSAICISMO: 46,XY,13-T(13P13P)+/ 46,XY,13-,T(13Q13Q)+ OPPURE 46,XY,13-,(13P13P)I/ 46,XY,13-(13Q13Q)I. = SYNDROME DE PATAU AVEC MOSAICISME PARTICULIER: 46XY,13-,T(13P13P)+/ 46XY,13-,T(13Q13Q)+ OU BIEN 46XY,13-,(13P13P)I/ 46XY,13-(13Q13Q)I.VENTRUTO V; DI PALMA L; FESTA B et al.1976; MINERVA PEDIATR.; ITAL.; DA. 1976; VOL. 28; NO 29; PP. 1795-1800; ABS. ANGL.; BIBL. 6 REF.Article

Molecular basis of hereditary fructose intolerance in Italy : identification of two novel mutations in the aldolase B geneSANTAMARIA, R; TAMASI, S; DEL PIANO, G et al.Journal of medical genetics. 1996, Vol 33, Num 9, pp 786-788, issn 0022-2593Article

Fragile X founder chromosomes in Italy : A few initial events and possible explanation for their heterogeneityCHIURAZZI, P; GENUARDI, M; OOSTRA, B. A et al.American journal of medical genetics. 1996, Vol 64, Num 1, pp 209-215, issn 0148-7299Article

Lung involvement, the ΔF508 mutation and DNA haplotype analysis in cystic fibrosisSANTAMARIA, F; SALVATORE, D; CASTIGLIONE, O et al.Human genetics. 1992, Vol 88, Num 6, pp 639-641, issn 0340-6717Article

Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosisBALLABIO, A; PARENTI, G; JOBSIS, A. C et al.Proceedings of the National Academy of Sciences of the United States of America. 1987, Vol 84, Num 13, pp 4519-4523, issn 0027-8424Article

Modulated expression of human hoemobox genes in differentiating intestinal cellsSEBASTIO, G; D'ESPOSITO, M; MONTANUCCI, M et al.Biochemical and biophysical research communications (Print). 1987, Vol 146, Num 2, pp 751-756, issn 0006-291XArticle

The biosynthesis of intestinal sucrase-isomaltase in human embryo is most likely controlled at the level of trancriptionSEBASTIO, G; HUNZIKER, W; O'NEILL, B et al.Biochemical and biophysical research communications (Print). 1987, Vol 149, Num 2, pp 830-839, issn 0006-291XArticle

Inv dup del (1)(pter→q44::q44→q42:) with the classical phenotype of trisomy 1q42-qterDE BRASI, D; ROSSI, E; GIGLIO, S et al.American journal of medical genetics. 2001, Vol 104, Num 2, pp 127-130, issn 0148-7299Article

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intoleranceSPERANDEO, M. P; BASSI, M. T; DIANZANI, I et al.American journal of human genetics. 2000, Vol 66, Num 1, pp 92-99, issn 0002-9297Article

SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intoleranceBORSANI, G; BASSI, M. T; BALLABIO, A et al.Nature genetics. 1999, Vol 21, Num 3, pp 297-301, issn 1061-4036Article

Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical coursePARENTI, G; SEBASTIO, G; STRISCIUGLIO, P et al.The Journal of pediatrics. 1995, Vol 126, Num 2, pp 246-251, issn 0022-3476Article

On the primary site of control in the spontaneous development of small-intestinal sucrase-isomaltase after birthSEBASTIO, G; HUNZIKER, W; BALLABIO, A et al.FEBS letters. 1986, Vol 208, Num 2, pp 460-464, issn 0014-5793Article

Mowat-Wilson Syndrome : Facial Phenotype Changing With Age: Study of 19 Italian Patients and Review of the LiteratureGARAVELLI, L; ZOLLINO, M; ORTESCHI, D et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 3, pp 417-426, issn 1552-4825, 10 p.Article

Case of Myhre syndrome with autism and peculiar skin histological findingsTITOMANLIO, L; MARZANO, M. G; ROSSI, E et al.American journal of medical genetics. 2001, Vol 103, Num 2, pp 163-165, issn 0148-7299Article

Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromesSPERANDEO, M. P; UNGARO, P; SEBASTIO, G et al.American journal of human genetics. 2000, Vol 66, Num 3, pp 841-847, issn 0002-9297Article

Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)(16.3;q22.1) : Relevance to the Wolf-Hirschhorn and Down syndrome critical regionsSEBASTIO, G; PERONE, L; NERI, G et al.American journal of medical genetics. 1996, Vol 63, Num 2, pp 366-372, issn 0148-7299Article