Mild wolf-hirschhorn phenotype and partial GH deficiency in a patient with a 4p terminal deletionTITOMANLIO, L; ROMANO, A; CONTI, A et al.American journal of medical genetics. 2004, Vol 127A, Num 2, pp 197-200, issn 0148-7299, 4 p.Article

Reversibility of joint thickening in acromegalic patients : An ultrasonography studyCOLAO, A; MARZULLO, P; VALLONE, G et al.The Journal of clinical endocrinology and metabolism. 1998, Vol 83, Num 6, pp 2121-2125, issn 0021-972XArticle

Holt-Oram Syndrome Associated With Anomalies of the FeetGARAVELLI, L; DE BRASI, D; ALBERTINI, G et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 9, pp 1185-1189, issn 1552-4825, 5 p.Article

Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 geneTITOMANLIO, L; DE BRASI, D; BUONINCONTI, A et al.Clinical genetics. 2004, Vol 65, Num 2, pp 156-157, issn 0009-9163, 2 p.Article

Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4SHAW, M. A; BRUNETTI-PIERRI, N; KADASI, L et al.Clinical genetics. 2003, Vol 64, Num 3, pp 235-242, issn 0009-9163, 8 p.Article

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

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

Short stature and azoospermia in a patient with Y chromosome long arm deletionDE ROSA, M; DE BRASI, D; LOMBARDI, G et al.Journal of endocrinological investigation (Testo stampato). 1997, Vol 20, Num 10, pp 623-628, issn 0391-4097Article