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Clinical phenotype and molecular characterization of 6q terminal deletion syndrome : Five new casesSTRIANO, Pasquale; MALACARNE, Michela; GAGGERO, Roberto et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 18, pp 1944-1949, issn 1552-4825, 6 p.Article

Oligogyric microcephaly in a child with Williams syndromeFARAVELLI, Francesca; D'ARRIGO, Stefano; BAGNASCO, Irene et al.American journal of medical genetics. 2003, Vol 117A, Num 2, pp 169-171, issn 0148-7299, 3 p.Article

A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5qMONICA, Matteo Della; LONARDO, Fortunato; FARAVELLI, Francesca et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 22, pp 2733-2737, issn 1552-4825, 5 p.Article

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfyWILDIN, Robert S; RAMSDELL, Fred; DAGNA BRICARELLI, Franca et al.Nature genetics. 2001, Vol 27, Num 1, pp 18-20, issn 1061-4036Article

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

Phenotype resembling donnai-barrow syndrome in a patient with 9qter;16qter unbalanced translocationFERRERO, Giovanni Battista; BELLIGNI, Elga; SORASIO, Lorena et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 8, pp 892-894, issn 1552-4825, 3 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

Mother to son amplification of a small subtelomeric deletion: A new mechanism of familial recurrence in microdeletion syndromesFARAVELLI, Francesca; MURDOLO, Marina; MARANGI, Giuseppe et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 11, pp 1169-1173, issn 1552-4825, 5 p.Article

Familial Nonkinesigenic Paroxysmal Dyskinesia and Intracranial Calcifications: A New Syndrome?YEGHIAZARYAN, Nune S; STRIANO, Pasquale; ACCORSI, Patrizia et al.Movement disorders. 2010, Vol 25, Num 14, pp 2468-2470, issn 0885-3185, 3 p.Article

High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpointsGERVASINI, Cristina; CASTRONOVO, Paola; SELICORNI, Angelo et al.Genomics (San Diego, Calif.). 2007, Vol 90, Num 5, pp 567-573, issn 0888-7543, 7 p.Article

Genotype-phenotype associations in sotos syndrome : An analysis of 266 individuals with NSD1 aberrationsTATTON-BROWN, Katrina; DOUGLAS, Jenny; WAGGONER, Darrel et al.American journal of human genetics. 2005, Vol 77, Num 2, pp 193-204, issn 0002-9297, 12 p.Article

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformationsROSSI, Elena; PICCINI, Flavia; RAGUSA, Angela et al.Journal of medical genetics. 2001, Vol 38, Num 6, pp 417-420, issn 0022-2593Article

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

6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern : A report of five casesELIA, Maurizio; STRIANO, Pasquale; ROMANO, Corrado et al.Epilepsia (Copenhagen). 2006, Vol 47, Num 5, pp 830-838, issn 0013-9580, 9 p.Article

Subtelomeric deletions of chromosome 9q: A novel microdeletion syndromeSTEWART, Douglas R; HUANG, Alina; GRIPP, Karen W et al.American journal of medical genetics. 2004, Vol 128A, Num 4, pp 340-351, issn 0148-7299, 12 p.Article

Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2ZOLLINO, Marcella; LECCE, Rosetta; FISCHETTO, Rita et al.American journal of human genetics. 2003, Vol 72, Num 3, pp 590-597, issn 0002-9297, 8 p.Article

Liver iron accumulation in chronic hepatitis C patients without HFE mutations: relationships with histological damage, viral load and genotype and α-glutathione S-transferase levelsGIANNINI, Edoardo; MASTRACCI, Luca; TESTA, Roberto et al.European journal of gastroenterology & hepatology. 2001, Vol 13, Num 11, pp 1355-1361, issn 0954-691XArticle

CDKN2A is the main susceptibility gene in Italian pancreatic cancer familiesGHIORZO, Paola; FORNARINI, Giuseppe; DECENSI, Andrea et al.Journal of medical genetics. 2012, Vol 49, Num 3, pp 164-170, issn 0022-2593, 7 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

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

Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4pl6ZOLLINO, Marcella; LECCE, Rosetta; BATTAGLIA, Domenica et al.Human genetics. 2007, Vol 122, Num 5, pp 423-430, issn 0340-6717, 8 p.Article

Aneurysm syndromes caused by mutations in the TGF-β receptorLOEYS, Bart L; SCHWARZE, Ulrike; ROBERTS, Amy E et al.The New England journal of medicine. 2006, Vol 355, Num 8, pp 788-798, issn 0028-4793, 11 p.Article