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Tiziano Pramparo

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Maggie L Chow; Craig April; Cynthia Carter Barnes; Haim Belinson; Jian-Bing Fan; Xiang-Dong Fu; Hai-Ri Li; Sarah Murray; Tiziano Pramparo; Nicholas J Schork; Lauren Weiss; Mary E Winn; Anthony Wynshaw-Boris; Eric Courchesne
Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages.
Tiziano Pramparo; Ondrej Libiger; Sonia Jain; Hong Li; Yong Ha Youn; Shinji Hirotsune; Nicholas J Schork; Anthony Wynshaw-Boris
Global developmental gene expression and pathway analysis of normal brain development and mouse models of human neuronal migration defects.
Andrew H Jheon; Pasha Mostowfi; Malcolm L Snead; Rebecca A Ihrie; Eli Sone; Tiziano Pramparo; Laura D Attardi; Ophir D Klein
PERP regulates enamel formation via effects on cell-cell adhesion and gene expression.

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2012: Maggie L Chow; Craig April; Cynthia Carter Barnes; Haim Belinson; Jian-Bing Fan; Xiang-Dong Fu; Hai-Ri Li; Sarah Murray; Tiziano Pramparo; Nicholas J Schork; Lauren Weiss; Mary E Winn; Anthony Wynshaw-Boris; Eric Courchesne
Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages.
PLoS genetics 2012;8(3):e1002592.
2011: Tiziano Pramparo; Ondrej Libiger; Sonia Jain; Hong Li; Yong Ha Youn; Shinji Hirotsune; Nicholas J Schork; Anthony Wynshaw-Boris
Global developmental gene expression and pathway analysis of normal brain development and mouse models of human neuronal migration defects.
PLoS genetics 2011;7(3):e1001331.
2011: Andrew H Jheon; Pasha Mostowfi; Malcolm L Snead; Rebecca A Ihrie; Eli Sone; Tiziano Pramparo; Laura D Attardi; Ophir D Klein
PERP regulates enamel formation via effects on cell-cell adhesion and gene expression.
Journal of cell science 2011;124(Pt 5):745-54.
2010: Anthony Wynshaw-Boris; Tiziano Pramparo; Yong Ha Youn; Shinji Hirotsune
Lissencephaly: mechanistic insights from animal models and potential therapeutic strategies.
Seminars in cell & developmental biology 2010;21(8):823-30.
2010: Tiziano Pramparo; Yong Ha Youn; Jessica Yingling; Shinji Hirotsune; Anthony Wynshaw-Boris
Novel embryonic neuronal migration and proliferation defects in Dcx mutant mice are exacerbated by Lis1 reduction.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2010;30(8):3002-12.
2009: Yong Ha Youn; Tiziano Pramparo; Shinji Hirotsune; Anthony Wynshaw-Boris
Distinct dose-dependent cortical neuronal migration and neurite extension defects in Lis1 and Ndel1 mutant mice.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2009;29(49):15520-30.
2009: Flavio Rizzolio; Tiziano Pramparo; Cinzia Sala; Orsetta Zuffardi; Lucia De Santis; Elisa Rabellotti; F Calzi; Francesco Fusi; R Bellazzi; Daniela Toniolo
Epigenetic analysis of the critical region I for premature ovarian failure: demonstration of a highly heterochromatic domain on the long arm of the mammalian X chromosome.
Journal of medical genetics 2009;46(9):585-92.
2008: Claudia Torniero; Bernardo Dalla Bernardina; Francesca Novara; Roberto Cerini; Clara Bonaglia; Tiziano Pramparo; Roberto Ciccone; Renzo Guerrini; Orsetta Zuffardi
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.
European journal of human genetics : EJHG 2008;16(8):880-7.
2008: Tiziano Pramparo; Manuela De Gregori; stefania gimelli; Roberto Ciccone; Domenico Frondizi; Thomas Liehr; Simona Pellacani; Gabriele Masi; Paola Brovedani; Orsetta Zuffardi; Renzo Guerrini
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation.
American journal of medical genetics. Part A 2008;146A(13):1754-60.
2008: Matteo Della Porta; Luca Malcovati; G M Rigolin; Vittorio Rosti; E Bonetti; Erica Travaglino; Emanuela Boveri; A Gallì; Sabrina Boggi; M Ciccone; Tiziano Pramparo; Giuliano Mazzini; Rosangela Invernizzi; Mario Lazzarino; Mario Cazzola
Immunophenotypic, cytogenetic and functional characterization of circulating endothelial cells in myelodysplastic syndromes.
Leukemia 2008;22(3):530-7.
2008: Jessica Yingling; Yong Ha Youn; Dawn Darling; Kazuhito Toyo-Oka; Tiziano Pramparo; Shinji Hirotsune; Anthony Wynshaw-Boris
Neuroepithelial stem cell proliferation requires LIS1 for precise spindle orientation and symmetric division.
Cell 2008;132(3):474-86.
2007: Flavio Rizzolio; Cinzia Sala; Simone Alboresi; Silvia Bione; Serena Gilli; Mara Goegan; Tiziano Pramparo; Orsetta Zuffardi; Daniela Toniolo
Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis.
Human genetics 2007;121(3-4):441-50.
2007: Roberto Giorda; Roberto Ciccone; Giorgio Gimelli; Tiziano Pramparo; Silvana Beri; Maria Clara Bonaglia; Sabrina Giglio; Maurizio Genuardi; Jesùs Argente; Mariano Rocchi; Orsetta Zuffardi
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.
Human mutation 2007;28(5):459-68.
2007: Laila Zahed; Tiziano Pramparo; Chantal Farra; Mohamad A Mikati; Orsetta Zuffardi
A patient with duplication (7)(p22.1pter) characterized by array-CGH.
American journal of medical genetics. Part A 2007;143(2):168-71.
2007: Richard Caselli; Caterina Speciale; Chiara Pescucci; Vera Uliana; Katia Sampieri; Mirella Bruttini; Ilaria Longo; Sonia De Francesco; Tiziano Pramparo; Orsetta Zuffardi; Renato Frezzotti; Antonio Acquaviva; Theodora Hadjistilianou; Alessandra Renieri; Francesca Mari
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH.
Journal of human genetics 2007;52(6):535-42.
2007: Claudia Torniero; Bernardo Dalla Bernardina; Francesca Novara; Annalisa Vetro; Ivana Ricca; Francesca Darra; Tiziano Pramparo; Renzo Guerrini; Orsetta Zuffardi
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.
European journal of human genetics : EJHG 2007;15(1):62-7.
2007: Giorgio Gimelli; stefania gimelli; Nazzareno Dimasi; Renata Bocciardi; Eliana Di Battista; Tiziano Pramparo; Orsetta Zuffardi
Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.
European journal of human genetics : EJHG 2007;15(1):76-80.
2007: Maria Clara Bonaglia; Susan Marelli; Giulietta Gottardi; Claudio Zucca; Tiziano Pramparo; Roberto Giorda; Rita Grasso; Renato Borgatti; Orsetta Zuffardi
Subtelomeric trisomy 21q: a new benign chromosomal variant.
European journal of medical genetics 2007;50(1):54-9.
2006: Maria Clara Bonaglia; Roberto Giorda; E Mani; G Aceti; B-M Anderlid; Anna Baroncini; Tiziano Pramparo; Orsetta Zuffardi
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.
Journal of medical genetics 2006;43(10):822-8.
2006: Francesca Moro; Tiziana Pisano; Bernardo Dalla Bernardina; Roberta Polli; Alessandra Murgia; Leonardo Zoccante; Francesca Darra; A Battaglia; Tiziano Pramparo; Orsetta Zuffardi; Renzo Guerrini
Periventricular heterotopia in fragile X syndrome.
Neurology 2006;67(4):713-5.
2006: Flavio Rizzolio; Silvia Bione; Cinzia Sala; Mara Goegan; Mattia Gentile; Giuliana Gregato; Elena Rossi; Tiziano Pramparo; Orsetta Zuffardi; Daniela Toniolo
Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature.
Human reproduction (Oxford, England) 2006;21(6):1477-83.
2006: Roberto Ciccone; Teresa Mattina; Roberto Giorda; Maria Clara Bonaglia; Mariano Rocchi; Tiziano Pramparo; Orsetta Zuffardi
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture.
Journal of medical genetics 2006;43(5):e19.
2005: Manuela De Gregori; Tiziano Pramparo; Luigi Memo; Giorgio Gimelli; Jole Messa; Mariano Rocchi; Maria Grazia Patricelli; Roberto Ciccone; Roberto Giorda; Orsetta Zuffardi
Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangement?
Human genetics 2005;118(2):207-13.
2005: Roberto Ciccone; Roberto Giorda; Giuliana Gregato; Renzo Guerrini; Sabrina Giglio; Rosalba Carrozzo; Maria Clara Bonaglia; Emanuela Priolo; Carmelo Laganà; Romano Tenconi; Mariano Rocchi; Tiziano Pramparo; Orsetta Zuffardi; Elena Rossi
Reciprocal translocations: a trap for cytogenetists?
Human genetics 2005;117(6):571-82.
2005: Tiziano Pramparo; Grosso Salvatore; Jole Messa; Adriana Zatterale; Maria Clara Bonaglia; Luciana Chessa; Paolo Balestri; Mariano Rocchi; Orsetta Zuffardi; Roberto Giorda
Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy.
Human genetics 2005;118(1):76-81.
2005: Manuela Morleo; Tiziano Pramparo; Lucia Perone; Giuliana Gregato; Cédric Le Caignec; Robert F Mueller; Tsutomu Ogata; Annick Raas-Rothschild; Marie-Christine De Blois; Louise C Wilson; Gerald Zaidman; Orsetta Zuffardi; Andrea Ballabio; Brunella Franco
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases.
American journal of medical genetics. Part A 2005;137(2):190-8.
2005: Tiziano Pramparo; Teresa Mattina; stefania gimelli; Thomas Liehr; Orsetta Zuffardi
Narrowing the deleted region associated with the 15q21 syndrome.
European journal of medical genetics 2005;48(3):346-52.
2005: Maria Clara Bonaglia; Roberto Giorda; Romano Tenconi; Marco Pessina; Tiziano Pramparo; Renato Borgatti; Orsetta Zuffardi
A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype.
European journal of human genetics : EJHG 2005;13(5):586-91.
2005: Elena Rossi; Manuela De Gregori; Maria Grazia Patricelli; Tiziano Pramparo; Luisa Argentiero; Sabrina Giglio; Katiuscia Sosta; Giovanni Foresti; Orsetta Zuffardi
8.5 Mb deletion at distal 5p in a male ascertained for azoospermia.
American journal of medical genetics. Part A 2005;133A(2):189-92.
2004: Francesca Rossetti; Flavio Rizzolio; Tiziano Pramparo; Cinzia Sala; Silvia Bione; Franca Bernardi; Mara Goegan; Orsetta Zuffardi; Daniela Toniolo
A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28.
European journal of human genetics : EJHG 2004;12(10):829-34.
2004: Tiziano Pramparo; Sabrina Giglio; Giuliana Gregato; Manuela De Gregori; Maria Grazia Patricelli; Roberto Ciccone; Susi Scappaticci; Gaetano Mannino; claudio lombardi; Barbara Pirola; Roberto Giorda; Mariano Rocchi; Orsetta Zuffardi
Inverted duplications: how many of them are mosaic?
European journal of human genetics : EJHG 2004;12(9):713-7.
2004: Roberto Giorda; A Cerritello; Maria Clara Bonaglia; S Bova; G Lanzi; E Repetti; Sabrina Giglio; Cinzia Baschirotto; Tiziano Pramparo; Luigi Avolio; Romano Bragheri; Paola Maraschio; Orsetta Zuffardi
Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia.
Journal of medical genetics 2004;41(6):e71.
2003: Tiziano Pramparo; Giuliana Gregato; Manuela De Gregori; Alessandra Friso; Maurizio Clementi; Patrizia Ardenghi; Mariano Rocchi; Orsetta Zuffardi; Romano Tenconi
Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male.
American journal of medical genetics. Part A 2003;123A(1):79-83.
2003: Francesca Vitelli; Antonella Viola; Masae Morishima; Tiziano Pramparo; Antonio Baldini; Elizabeth Lindsay
TBX1 is required for inner ear morphogenesis.
Human molecular genetics 2003;12(16):2041-8.
2003: Maria Clara Bonaglia; Roberto Giorda; A Cavallini; Tiziano Pramparo; M Rocchi; Renato Borgatti; Orsetta Zuffardi
Distal trisomy 6p and 20q owing to the concurrent transposition of distal 6p and 20q to the 22q telomere: a genomic polymorphism?
Journal of medical genetics 2003;40(8):e94.
2001: Elizabeth Lindsay; Francesca Vitelli; H Su; Masae Morishima; Tuong Huynh; Tiziano Pramparo; V Jurecic; G Ogunrinu; H F Sutherland; Peter J Scambler; Allan Bradley; Antonio Baldini
Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice.
Nature 2001;410(6824):97-101.
2000: Marco Manzoni; Tiziano Pramparo; A Stroppolo; F Chiaino; E Bosi; Orsetta Zuffardi; R Carrozzo
A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY.
Clinical genetics 2000;57(5):406-8.