Midline raphe, sternal cleft, and other midline abnormalities : A new dominant syndrome?FORZANO, Francesca; DAUBENEY, Piers E. F; WHITE, Susan M et al.American journal of medical genetics. 2005, Vol 135A, Num 1, pp 9-12, issn 0148-7299, 4 p.Article

Fetal aortic root dilation : A prenatal feature of the Loeys-Dietz syndromeVIASSOLO, Valeria; LITUANIA, Mario; MARASINI, Maurizio et al.Prenatal diagnosis. 2006, Vol 26, Num 11, pp 1081-1083, issn 0197-3851, 3 p.Article

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activityGORDILLO, Miriam; VEGA, Hugo; GIOVANNUCCI UZIELLI, Maria L et al.Human molecular genetics (Print). 2008, Vol 17, Num 14, pp 2172-2180, issn 0964-6906, 9 p.Article

Simpson―Golabi―Behmel Syndrome Type 1 in a 27-Week Macrosomic Preterm Newborn: The Diagnostic Value of Rib Malformations and Index Nail and Finger HypoplasiaGARAVELLI, Livia; GARGANO, Giancarlo; POMPONI, Maria Grazia et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 9, pp 2245-2249, issn 1552-4825, 5 p.Article

The Diagnostic Challenge of Progressive Pseudorheumatoid Dysplasia (PPRD): A Review of Clinical Features, Radiographic Features, and WISP3 Mutations in 63 Affected IndividualsGARCIA SEGARRA, Nuria; MITTAZ, Laureane; ELCIOGLU, Nursel H et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2012, Vol 160, Num 3, pp 217-229, issn 1552-4868, 13 p.Article

Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndromeHAMMOND, Peter; HANNES, Femke; SOUTH, Sarah T et al.European journal of human genetics. 2012, Vol 20, Num 1, pp 33-40, issn 1018-4813, 8 p.Article

The Refinement of the Critical Region for the 2q31.2q32.3 Deletion Syndrome Indicates Candidate Genes for Mental Retardation and Speech ImpairmentCOCCHELLA, Alessandro; MALACARNE, Michela; FORZANO, Francesca et al.American journal of medical genetics. Part B, Neuropsychiatric genetics. 2010, Vol 153, Num 7, pp 1342-1346, issn 1552-4841, 5 p.Article

Prenatal diagnosis of Gollop-Wolfgang ComplexFORZANO, Francesca; VIASSOLO, V; CASTAGNETTA, M et al.Prenatal diagnosis. 2009, Vol 29, Num 7, pp 724-726, issn 0197-3851, 3 p.Article

Recurrence of Mowat-Wilson Syndrome in Siblings With a Novel Mutation in the ZEB2 GeneCECCONI, Massimiliano; FORZANO, Francesca; GARAVELLI, Livia et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 23, pp 3095-3099, issn 1552-4825, 5 p.Article

Italian appeal court: a genetic predisposition to commit murder?FORZANO, Francesca; BORRY, Pascal; CAMBON-THOMSEN, Anne et al.European journal of human genetics. 2010, Vol 18, Num 5, pp 519-521, issn 1018-4813, 3 p.Article

Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosisLALATTA, Faustina; QUAGLIARINI, Donatella; NARETTO, Valeria Giorgia et al.European journal of pediatrics. 2010, Vol 169, Num 10, pp 1255-1261, issn 0340-6199, 7 p.Article