Frontal bilateral megalencephaly : fetal and autopsy MR evaluation of an unclassified malformationPARAZZINI, Cecilia; RIGHINI, Andrea; LALATTA, Faustina et al.Prenatal diagnosis. 2005, Vol 25, Num 6, pp 489-491, issn 0197-3851, 3 p.Article

Genetic screening in 2,710 infertile candidate couples for assisted reproductive techniques : results of application of Italian guidelines for the appropriate use of genetic testsRICCABONI, Alessandra; LALATTA, Faustina; CALIARI, Ilaria et al.Fertility and sterility. 2008, Vol 89, Num 4, pp 800-808, issn 0015-0282, 9 p.Article

Congenital diaphragmatic hernia as prenatal presentation of Apert syndromeBULFAMANTE, Gaetano; GANA, Simone; AVAGLIANO, Laura et al.Prenatal diagnosis. 2011, Vol 31, Num 9, pp 910-911, issn 0197-3851, 2 p.Article

An Interactive Computer Program Can Effectively Educate Potential Users of Cystic Fibrosis Carrier TestsCASTELLANI, Carlo; PEROBELLI, Sandra; BIANCHI, Vera et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 4, pp 778-785, issn 1552-4825, 8 p.Article

Expanding the phenotype of 22q13.3 deletion : report of a case detected prenatallyMAITZ, Silvia; GENTILIN, Barbara; COLLI, Anna Maria et al.Prenatal diagnosis. 2008, Vol 28, Num 10, pp 978-980, issn 0197-3851, 3 p.Article

Clinical Follow-Up of Young Adults Affected by Williams Syndrome: Experience of 45 Italian PatientsBEDESCHI, Maria Francesca; BIANCHI, Vera; COLLI, Anna Maria et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 2, pp 353-359, issn 1552-4825, 7 p.Article

Germline Mosaicism in Achondroplasia Detected in Sperm DNA of the Father of Three Affected SibsNATACCI, Federica; BAFFICO, Maria; CAVALLARI, Ugo et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 6, pp 784-786, issn 1552-4825, 3 p.Article

Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patientBALLARATI, Lucia; PAOLA RECALCATI, Maria; FRANCESCA BEDESCHI, Maria et al.European journal of medical genetics. 2009, Vol 52, Num 4, pp 218-223, issn 1769-7212, 6 p.Article

The importance of a differential diagnosis between true hemifacial microsomia and pseudo-hemifacial microsomia in the post-surgical long-term prognosisMEAZZINI, Maria C; BRUSATI, Roberto; DINER, Patrik et al.Journal of cranio-maxillo-facial surgery. 2011, Vol 39, Num 1, pp 10-16, issn 1010-5182, 7 p.Article

A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafnessPRIMIGNANI, Paola; TROTTA, Luca; TRAVI, Maurizio et al.The Laryngoscope. 2007, Vol 117, Num 5, pp 821-824, issn 0023-852X, 4 p.Article

Three cases with de novo 6q imbalance and variable prenatal phenotypeGRATI, Francesca R; LALATTA, Faustina; BALDO, Demetrio et al.American journal of medical genetics. 2005, Vol 136A, Num 3, pp 254-258, issn 0148-7299, 5 p.Article

De novo balanced chromosome rearrangements in prenatal diagnosisGIARDINO, Daniela; CORTI, Cecilia; COVIELLO, Domenico et al.Prenatal diagnosis. 2009, Vol 29, Num 3, pp 257-265, issn 0197-3851, 9 p.Article

Association of Syndromic Mental Retardation With an Xql2ql3.1 Duplication Encompassing the Oligophrenin 1 GeneBEDESCHI, Maria Francesca; NOVELLI, Antonio; LALATTA, Faustina et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 13, pp 1718-1724, issn 1552-4825, 7 p.Article

High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene : clinical characterization and functional studies of the mutated SLC26A4 proteinFUGAZZOLA, Laura; CIRELLO, Valentina; PAULMICHL, Markus et al.European journal of endocrinology. 2007, Vol 157, Num 3, pp 331-338, issn 0804-4643, 8 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

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndromeBLIEK, Jet; VERDE, Gaetano; FISCHETTO, Rita et al.European journal of human genetics. 2009, Vol 17, Num 5, pp 611-619, issn 1018-4813, 9 p.Article

Norman-Roberts syndrome : characterization of the phenotype in early fetal lifeNATACCI, Federica; FRANCESCA BEDESCHI, Maria; RIGHINI, Andrea et al.Prenatal diagnosis. 2007, Vol 27, Num 6, pp 568-572, issn 0197-3851, 5 p.Article