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Orsetta Zuffardi

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Davide Tonduti; Fabio Triulzi; Adeline Vanderver; Orsetta Zuffardi; Johanna L Schmidt; Umberto Balottin; Angela Berardinelli; Janice E Brunstrom-Hernandez; Christin D Collins; Antonia Di Genni; Alda Mita; Francesca Novara; Simona Orcesi
MCT8 Deficiency: Extrapyramidal Symptoms and Delayed Myelination as Prominent Features.
Immacolata Andolfo; Carla Auriemma; Carlo Brugnara; Maria D'Armiento; Luigia De Falco; Lucia De Franceschi; Jean Delaunay; Maria Rosaria Esposito; Bertil E Glader; Ivan Limongelli; Donatella Montanaro; Rupa Narayan; Roberta Russo; Stanley L Schrier; Boris E Shmukler; Gordon W Stewart; Fara Vallefuoco; David H Vandorpe; Annalisa Vetro; Orsetta Zuffardi; Seth L Alper; Achille Iolascon
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.
Vittorio Rosti; Lorenzo Tozzi; Alessandro M Vannucchi; L Villani; Orsetta Zuffardi; Giovanni Barosi; Gaetano Bergamaschi; Elisa Bonetti; Rita Campanelli; Paolo Catarsi; Elena Dallera; Giacomo Fiandrino; Gabriela Fois; Paola Guglielmelli; Marco Lucioni; Umberto Magrini; Margherita Massa; Francesca Novara; Alessandro Pancrazzi; Marco Paulli; Benedetta Peruzzi; Valentina Poletto; Roberta Riboni
Spleen endothelial cells from patients with myelofibrosis harbor the JAK2V617F mutation.

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2013: Davide Tonduti; Fabio Triulzi; Adeline Vanderver; Orsetta Zuffardi; Johanna L Schmidt; Umberto Balottin; Angela Berardinelli; Janice E Brunstrom-Hernandez; Christin D Collins; Antonia Di Genni; Alda Mita; Francesca Novara; Simona Orcesi
MCT8 Deficiency: Extrapyramidal Symptoms and Delayed Myelination as Prominent Features.
Journal of child neurology 2013;28(6):792-7.
2013: Immacolata Andolfo; Carla Auriemma; Carlo Brugnara; Maria D'Armiento; Luigia De Falco; Lucia De Franceschi; Jean Delaunay; Maria Rosaria Esposito; Bertil E Glader; Ivan Limongelli; Donatella Montanaro; Rupa Narayan; Roberta Russo; Stanley L Schrier; Boris E Shmukler; Gordon W Stewart; Fara Vallefuoco; David H Vandorpe; Annalisa Vetro; Orsetta Zuffardi; Seth L Alper; Achille Iolascon
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.
Blood 2013;121(19):3925-35.
2013: Vittorio Rosti; Lorenzo Tozzi; Alessandro M Vannucchi; L Villani; Orsetta Zuffardi; Giovanni Barosi; Gaetano Bergamaschi; Elisa Bonetti; Rita Campanelli; Paolo Catarsi; Elena Dallera; Giacomo Fiandrino; Gabriela Fois; Paola Guglielmelli; Marco Lucioni; Umberto Magrini; Margherita Massa; Francesca Novara; Alessandro Pancrazzi; Marco Paulli; Benedetta Peruzzi; Valentina Poletto; Roberta Riboni
Spleen endothelial cells from patients with myelofibrosis harbor the JAK2V617F mutation.
Blood 2013;121(2):360-8.
2013: Francesca Novara; Chiara Pantaleoni; Francesca L Sciacca; Orsetta Zuffardi; Valentina Achille; Enrico Alfei; Silvana Beri; Stefano D'Arrigo; Roberto Giorda; Roberto Ciccone
5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.
European journal of medical genetics 2013;56(1):54-8.
2012: Giulia Valvo; Orsetta Zuffardi; Paola Brovedani; Anna Rita Ferrari; Renzo Guerrini; Francesca Novara; Federico Sicca
22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature.
Epilepsy & behavior : E&B 2012;25(4):567-72.
2012: Esmeralda Matute; Orsetta Zuffardi; Adriana Aguilar-Lemarroy; Erika Della Mina; Olga Inozemtseva; Luis F Jave-Suarez; Horacio Rivera
Cognitive and behavioral phenotype of a young man with a chromosome 13 deletion del(13)(q21.32q31.1).
Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology 2012;25(3):154-8.
2012: Paola De Filippi; Daniela Lisini; Claudia Cagioni; Carmelo Carlo-Stella; Cesare Danesino; Emanuela Maserati; Francesca Novara; Daria Pagliara; Francesco Pasquali; Vittorio Rosti; Niki Zavras; Marco Zecca; Orsetta Zuffardi; Franco Locatelli
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia.
Pediatric blood & cancer 2012;59(3):580-2.
2012: Simone Gana; Mohamad Maghnie; Giuseppe Micieli; Katie Plunkett; Elena Rossi; Giusy Sciacca; Vernon R Sutton; Pierangelo Veggiotti; Anna Bersano; Weimin Bi; Roberto Ciccone; Cristina Fedeli; Orsetta Zuffardi
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias.
European journal of human genetics : EJHG 2012;20(8):852-6.
2012: Elena Cellini; Vittoria Disciglio; James A Barkovich; Joseph Hayek; Maria Antonietta Mencarelli; Francesca Novara; Alessandra Renieri; Orsetta Zuffardi; Renzo Guerrini
Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion.
American journal of medical genetics. Part A 2012;158A(7):1793-7.
2012: Annalisa Vetro; Orsetta Zuffardi; Joris R Vermeesch; Katelijne Bouman; Ros Hastings; David Ledbetter; Dominic J McMullan; Konstantin Miller; Birgit Sikkema-Raddatz; Conny M A van Ravenswaaij-Arts
The introduction of arrays in prenatal diagnosis: a special challenge.
Human mutation 2012;33(6):923-9.
2012: M Iascone; D Marchetti; L Pezzoli; Francesco Seddio; Annalisa Vetro; D Barachetti; L Boni; Roberto Ciccone; D Federici; P Ferrazzi; Lorenzo Galletti; J V Comas; A R Lincesso; A M Soto; Orsetta Zuffardi
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome.
Clinical genetics 2012;81(6):542-54.
2012: Maria Piccione; Mauro Pierluigi; Ettore Piro; Francesca Serraino; Marianna Vitaloni; Orsetta Zuffardi; Simona Cavani; Roberto Ciccone; Michela Malacarne; Giovanni Corsello
Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.
European journal of medical genetics 2012;55(4):238-44.
2012: Leonardo Salviati; Carlos Santos-Ocaña; Geppo Sartori; Eva Trevisson; Orsetta Zuffardi; Vanessa Pertegato; Catarina M Quinzii; Maria Angeles Rodriguez Hernandez; Sabrina Sacconi; Caterina Agosto; Rafael Artuch; Alberto Casarin; Matteo Cassina; Maria Andrea Desbats; Salvatore DiMauro; Mara Doimo; Michio Hirano; Luigi Memo; Plácido Navas
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.
Journal of medical genetics 2012;49(3):187-91.
2012: Annalisa Vetro; Giulia Arrigo; Stefania Cesari; Gianfranco Croci; Barbara Dal Bello; Fabrizia Franchi; Angela Iasci; Thomas Liehr; Emmanouil Manolakos; Maria Marinelli; Emanuela Meneghelli; Michael B Petersen; Loretta Thomaidis; Orsetta Zuffardi
Unexpected results in the constitution of small supernumerary marker chromosomes.
European journal of medical genetics 2012;55(3):185-90.
2012: Elena Rossi; Donatella Saccilotto; Fiorenza Soli; Silvana Beri; Maria Clara Bonaglia; Aldo Bonfante; Stefania Di Candia; Adriana Franzese; Sabrina Giglio; Roberto Giorda; Elena Grechi; Maria Grazia Patricelli; Francesca Rivieri; Mariano Rocchi; Orsetta Zuffardi
De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s.
PloS one 2012;7(6):e39180.
2012: Stavros Sifakis; Annalisa Vetro; Nikolaos Vrachnis; Orsetta Zuffardi; Antonios Garas; Dimitra Kappou; Anastasia Konstandinidou; Maria Kontodiou; Emmanouil Manolakos; Sandro Orru; Panagiotis Peitsidis; Ioannis Papoulidis
Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature.
Molecular cytogenetics 2012;5():12.
2011: Lucy Costantino; Francesca Novara; Valentina Paracchini; Luigi Porcaro; Damiana Rusconi; Patrizia Capasso; Laura Claut; Carla Colombo; Orsetta Zuffardi; Manuela Seia
A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysis.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2011;10(6):412-7.
2011: Elena Rossi; Catherine Klersy; Rachele Manca; Orsetta Zuffardi; Enrico Solcia
Correlation between genomic alterations assessed by array comparative genomic hybridization, prognostically informative histologic subtype, stage, and patient survival in gastric cancer.
Human pathology 2011;42(12):1937-45.
2011: Roberto Giorda; Emmanouil Manolakos; Barbara Scelsa; Luigina Spaccini; Silvana Beri; Maria Clara Bonaglia; Roberto Ciccone; Erika Della Mina; Orsetta Zuffardi
Common structural features characterize interstitial intrachromosomal Xp and 18q triplications.
American journal of medical genetics. Part A 2011;155A(11):2681-7.
2011: Marco Lucioni; Marta Nicola; Francesca Novara; Francesco Onida; Marco Paulli; Roberta Riboni; Erica Travaglino; Luigia Venegoni; Pamela Vezzoli; Orsetta Zuffardi; Emanuela Boveri; Elena Dallera; Daniele Fanoni; Giacomo Fiandrino; Luca Arcaini; Mariarosa Arra; Emilio Berti
Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: focus on biallelic locus 9p21.3 deletion.
Blood 2011;118(17):4591-4.
2011: Annalisa Vetro; Roberto Ciccone; Erika Della Mina; Antonella Forlino; Roberto Giorda; Maria Grazia Patricelli; Orsetta Zuffardi
XX males SRY negative: a confirmed cause of infertility.
Journal of medical genetics 2011;48(10):710-2.
2011: Stefania Tommasi; Wainer Zoli; Orsetta Zuffardi; Elena Rossi; Patrizia Chiarappa; Giuseppina Iannelli; Anita Mangia; Marcella Mottolese; Laura Ottini; Angelo Paradiso
Gene copy number variation in male breast cancer by aCGH.
Cellular oncology (Dordrecht) 2011;34(5):467-73.
2011: Marcella Broli; Serafino Buono; Daniela Cevolani; Isabella Fiocchi; Elena Fontana; Roberto Gallassi; Roberto Giorda; Massimo Mastrangelo; Sebastiano Antonino Musumeci; Roberto Poda; Santina Reitano; Corrado Romano; Maria Savio; Marco Seri; Raffaele Agati; Bruno Bernardi; Bernardo Dalla Bernardina; Francesca Bisulli; Maria Clara Bonaglia; Girolamo Aurelio Vitello; Claudio Zucca; Orsetta Zuffardi; Paolo Tinuper
Definition of the neurological phenotype associated with dup (X)(p11.22-p11.23).
Epileptic disorders : international epilepsy journal with videotape 2011;13(3):240-51.
2011: Marco Lucioni; Marta Nicola; Francesca Novara; Luca Arcaini; Emanuela Boveri; Giacomo Fiandrino; Vassili Jemos; S Kindl; Roberta Riboni; Orsetta Zuffardi; Marco Paulli
CD5(-) diffuse large B-cell lymphoma with peculiar cyclin D1+ phenotype. Pathologic and molecular characterization of a single case.
Human pathology 2011;42(8):1204-8.
2011: Valentina Achille; Giulia Arrigo; Maria Antonietta Avanzini; Giovanni Barosi; Maria Ester Bernardo; Melissa Mantelli; Francesca Novara; Marco Zecca; Orsetta Zuffardi; Rita Maccario
Cell-cycle phases and genetic profile of bone marrow-derived mesenchymal stromal cells expanded in vitro from healthy donors.
Journal of cellular biochemistry 2011;112(7):1817-21.
2011: Emmanouil Manolakos; Annalisa Vetro; Konstantinos Kefalas; Loretta Thomaidis; Georgios Aperis; Sotirios Sotiriou; George Kitsos; Martina Merkas; Stavros Sifakis; Ioannis Papoulidis; Thomas Liehr; Orsetta Zuffardi; Michael B Petersen
Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation.
American journal of medical genetics. Part A 2011;155A(6):1476-82.
2011: Orsetta Zuffardi; Annalisa Vetro; Paul Brady; Joris Vermeesch
Array technology in prenatal diagnosis.
Seminars in fetal & neonatal medicine 2011;16(2):94-8.
2011: The-Hung Bui; Annalisa Vetro; Orsetta Zuffardi; Lisa G Shaffer
Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era?
Prenatal diagnosis 2011;31(3):235-43.
2011: Federica Parodi; Lorena Passoni; Luisa Massimo; Roberto Luksch; Claudio Gambini; Elena Rossi; Orsetta Zuffardi; Vito Pistoia; Annalisa Pezzolo
Identification of novel prognostic markers in relapsing localized resectable neuroblastoma.
Omics : a journal of integrative biology 2011;15(3):113-21.
2011: Nicola Brunetti-Pierri; Alex R Paciorkowski; Roberto Ciccone; Maria Clara Bonaglia; Renato Borgatti; Christian P Schaaf; V Reid Sutton; Zhilian Xia; Naftha Jelluma; Claudia Ruivenkamp; Mary Bertrand; Thomy J L de Ravel; Parul Jayakar; Serena Belli; Katia Rocchetti; Chiara Pantaleoni; Stefano D'Arrigo; Jeff Hughes; Sau Wai Cheung; Orsetta Zuffardi; Erika Della Mina; Pawel Stankiewicz
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.
European journal of human genetics : EJHG 2011;19(1):102-7.
2010: stefania gimelli; Gianluca Caridi; Silvana Beri; Kyle McCracken; Renata Bocciardi; Paola Zordan; Monica Dagnino; Patrizia Fiorio; Luisa Murer; Elisa Benetti; Orsetta Zuffardi; Roberto Giorda; James M Wells; Giorgio Gimelli; Gian Marco Ghiggeri
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract.
Human mutation 2010;31(12):1352-9.
2010: Maria C Bonaglia; Susan Marelli; Francesca Novara; Simona Commodaro; Renato Borgatti; Grazia Minardo; Luigi Memo; Elisabeth Mangold; Silvana Beri; Claudio Zucca; Daniele Brambilla; Massimo Molteni; Roberto Giorda; Ruthild G Weber; Orsetta Zuffardi
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.
European journal of human genetics : EJHG 2010;18(12):1302-9.
2010: F Novara; S Beri; Roberto Giorda; E Ortibus; S Nageshappa; F Darra; B Dalla Bernardina; Orsetta Zuffardi; H Van Esch
Refining the phenotype associated with MEF2C haploinsufficiency.
Clinical genetics 2010;78(5):471-7.
2010: Nicoletta Resta; Roberto Giorda; Rosanna Bagnulo; Silvana Beri; Erika Della Mina; Alessandro Stella; Marilidia Piglionica; Francesco C Susca; Ginevra Guanti; Orsetta Zuffardi; Roberto Ciccone
Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects.
Human genetics 2010;128(4):373-82.
2010: Cristina Gervasini; Federica Mottadelli; Roberto Ciccone; Paola Castronovo; Donatella Milani; Gioacchino Scarano; Maria Francesca Bedeschi; Serena Belli; Alba Pilotta; Angelo Selicorni; Orsetta Zuffardi; Lidia Larizza
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis.
European journal of human genetics : EJHG 2010;18(7):768-75.
2010: Ioannis Papoulidis; Emmanouil Manolakos; Elisavet Siomou; Kostantinos Kefalas; Loretta Thomaidis; Thomas Liehr; Annalisa Vetro; Apostolos Athanasiadis; Orsetta Zuffardi; Michael B Petersen
A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth.
Prenatal diagnosis 2010;30(6):586-8.
2010: stefania gimelli; Jacqueline Chrast; Anwar Baban; Charlotte N Henrichsen; Margherita Lerone; Orsetta Zuffardi; Giorgio Gimelli; Alexandre Reymond
A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes.
American journal of medical genetics. Part A 2010;152A(5):1285-94.
2010: Daniele Ghezzi; Irina Sevrioukova; Federica Invernizzi; Costanza Lamperti; Marina Mora; Pio D'Adamo; Francesca Novara; Orsetta Zuffardi; Graziella Uziel; Massimo Zeviani
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.
American journal of human genetics 2010;86(4):639-49.
2010: Davide Mei; Carla Marini; Francesca Novara; Bernardo D Bernardina; Tiziana Granata; Elena Fontana; Elena Parrini; Anna R Ferrari; Alessandra Murgia; Orsetta Zuffardi; Renzo Guerrini
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.
Epilepsia 2010;51(4):647-54.
2010: Antonietta Coppola; Pasquale Striano; stefania gimelli; Clotilde Ciampa; Lia Santulli; Ferdinando Caranci; Orsetta Zuffardi; Giorgio Gimelli; Salvatore Striano; Federico Zara
A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms.
Brain & development 2010;32(3):248-52.
2010: Katia Todoerti; Gina Lisignoli; Paola Storti; Luca Agnelli; Francesca Novara; Cristina Manferdini; Katia Codeluppi; Simona Colla; Monica Crugnola; Manuela Abeltino; Marina Bolzoni; Valentina Sgobba; Andrea Facchini; Giorgio Lambertenghi-Deliliers; Orsetta Zuffardi; Vittorio Rizzoli; Antonino Neri; Nicola Giuliani
Distinct transcriptional profiles characterize bone microenvironment mesenchymal cells rather than osteoblasts in relationship with multiple myeloma bone disease.
Experimental hematology 2010;38(2):141-53.
2010: Stefania Tommasi; Anita Mangia; Giuseppina Iannelli; Patrizia Chiarappa; Elena Rossi; Laura Ottini; Marcella Mottolese; Wainer Zoli; Orsetta Zuffardi; angelo paradiso
Gene copy number variation in male breast cancer by aCGH.
Analytical cellular pathology (Amsterdam) 2010;33(3):113-9.
2010: Margherita Silengo; E Belligni; C Molinatto; G Baldassarre; G Baldassare; E Biamino; N Chiesa; Orsetta Zuffardi; S Girirajan; Evan E Eichler; Giovanni Battista Ferrero
Eyebrow anomalies as a diagnostic sign of genomic disorders.
Clinical genetics 2010;77(1):28-31.
2009: Francesca Novara; Luca Arcaini; Michele Merli; Francesco Passamonti; Silvia Zibellini; Silvia Rizzi; Sara Rattotti; Elisa Rumi; Cristiana Pascutto; Annalisa Vetro; Cesare Astori; Emanuela Boveri; Marco Lucioni; Marco Paulli; Orsetta Zuffardi; Mario Lazzarino
High-resolution genome-wide array comparative genomic hybridization in splenic marginal zone B-cell lymphoma.
Human pathology 2009;40(11):1628-37.
2009: Giovanna Piaggio; Vittorio Rosti; Mirko Corselli; Francesca Bertolotti; Gaetano Bergamaschi; Sarah Pozzi; Davide Imperiale; Barbara Chiavarina; Elisa Bonetti; Francesca Novara; Mario Sessarego; Laura Villani; Anna Garuti; Margherita Massa; Riccardo Ghio; Rita Campanelli; Andrea Bacigalupo; Alessandro Pecci; Gianluca Viarengo; Orsetta Zuffardi; Francesco Frassoni; Giovanni Barosi
Endothelial colony-forming cells from patients with chronic myeloproliferative disorders lack the disease-specific molecular clonality marker.
Blood 2009;114(14):3127-30.
2009: Francesca Novara; Silvana Beri; Maria Ester Bernardo; Riccardo Bellazzi; Alberto Malovini; Roberto Ciccone; Angela Maria Cometa; Franco Locatelli; Roberto Giorda; Orsetta Zuffardi
Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood.
Human genetics 2009;126(4):511-20.
2009: Ilaria Carboni; Elena Andreucci; Maria R Caruso; Roberto Ciccone; Orsetta Zuffardi; Maurizio Genuardi; Ivana Pela; Sabrina Giglio
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2009;24(9):2734-8.
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.
2009: Christel Thauvin-Robinet; Patrick Callier; Brunella Franco; Orsetta Zuffardi; Muriel Payet; Bernard Aral; Nadège Gigot; Anne Donzel; Anne-Laure Mosca-Boidron; Alice Masurel-Paulet; Frédéric Huet; Jean-Raymond Teyssier; Francine Mugneret; Laurence Faivre
Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene.
American journal of medical genetics. Part A 2009;149A(8):1846-9.
2009: Orsetta Zuffardi; Maria Clara Bonaglia; Roberto Ciccone; Roberto Giorda
Inverted duplications deletions: underdiagnosed rearrangements??
Clinical genetics 2009;75(6):505-13.
2009: Annalisa Pezzolo; Elena Rossi; stefania gimelli; Federica Parodi; Francesca Negri; Massimo Conte; Angela Pistorio; Angela Sementa; Vito Pistoia; Orsetta Zuffardi; Claudio Gambini
Presence of 1q gain and absence of 7p gain are new predictors of local or metastatic relapse in localized resectable neuroblastoma.
Neuro-oncology 2009;11(2):192-200.
2009: Maria Clara Bonaglia; Roberto Giorda; Silvana Beri; Stefania Bigoni; Alberto Sensi; Anna Baroncini; Antonella Capucci; Cristina De Agostini; Rhian Gwilliam; Panos Deloukas; Carl Bruder; Orsetta Zuffardi
Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion.
European journal of human genetics : EJHG 2009;17(4):426-33.
2009: Jill Clayton-Smith; Sarah Walters; Emma Hobson; Emma Burkitt-Wright; Rupert Smith; Annick Toutain; Jeanne Amiel; Stanislas Lyonnet; Sahar Mansour; David Fitzpatrick; Roberto Ciccone; Ivana Ricca; Orsetta Zuffardi; Dian Donnai
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.
European journal of human genetics : EJHG 2009;17(4):434-43.
2009: Carlos Cardoso; A Boys; Elena Parrini; C Mignon-Ravix; J M McMahon; S Khantane; Enrico Bertini; E Pallesi; C Missirian; Orsetta Zuffardi; F Novara; L Villard; S Giglio; B Chabrol; H R Slater; A Moncla; I E Scheffer; Renzo Guerrini
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.
Neurology 2009;72(9):784-92.
2009: Cinzia Magnani; Salvatore Antonio Tedesco; Sara Dallaglio; Marcello Sommi; Ermanno Bacchini; Annalisa Vetro; Orsetta Zuffardi; Giulio Bevilacqua
Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome?
American journal of medical genetics. Part A 2009;149A(4):737-41.
2009: Maria Clara Bonaglia; Roberto Giorda; Angelo Massagli; Rita Galluzzi; Roberto Ciccone; Orsetta Zuffardi
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.
European journal of human genetics : EJHG 2009;17(2):179-86.
2009: Maria Ester Bernardo; Maria Antonietta Avanzini; Rachele Ciccocioppo; Cesare Perotti; Angela Maria Cometa; Antonia Moretta; Massimo Marconi; Monica Valli; Francesca Novara; Federico Bonetti; Orsetta Zuffardi; Rita Maccario; Gino Roberto Corazza; Franco Locatelli
Phenotypical/functional characterization of in vitro-expanded mesenchymal stromal cells from patients with Crohn's disease.
Cytotherapy 2009;11(7):825-36.
2009: stefania gimelli; Silvana Beri; Harry A Drabkin; Claudio Gambini; Andrea Gregorio; Patrizia Fiorio; Orsetta Zuffardi; Robert M Gemmill; Roberto Giorda; Giorgio Gimelli
The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma.
Molecular cancer 2009;8():52.
2009: Elga F Belligni; Elisa Biamino; Cristina Molinatto; Jole Messa; Mauro Pierluigi; Francesca Faravelli; Orsetta Zuffardi; Giovanni B Ferrero; Margherita Cirillo Silengo
Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.
Italian journal of pediatrics 2009;35(1):9.
2008: Anna Lisa Nucaro; Marta Meloni; Tiziana Pisano; Paola Melis; Elena Rossi; Rossano Rossino; Simona Corona; Mario Loi; Francesco Achena; Orsetta Zuffardi; Carlo Cianchetti
Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31-->pter and monosomy 3p26.3-->pter in seven members.
American journal of medical genetics. Part A 2008;146A(24):3242-5.
2008: Annalisa Vetro; Angela Iasci; Barbara Dal Bello; Elena Rossi; Jole Messa; Laura Montanari; Stefania Cesari; Orsetta Zuffardi
A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogenetics.
Prenatal diagnosis 2008;28(12):1171-3.
2008: Maria Clara Bonaglia; Roberto Ciccone; Giorgio Gimelli; stefania gimelli; Susan Marelli; Joke Verheij; Roberto Giorda; Rita Grasso; Renato Borgatti; Filomena Pagone; Laura Rodrìguez; Maria-Luisa Martinez-Frias; Conny van Ravenswaaij-Arts; Orsetta Zuffardi
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype.
European journal of human genetics : EJHG 2008;16(12):1443-9.
2008: Elena Rossi; J Messa; Orsetta Zuffardi
Ring syndrome: still true?
Journal of medical genetics 2008;45(11):766-8.
2008: Sergio Tempesta; Danila Sollima; Sara Ghezzo; Valeria Politi; Barbara Sinigaglia; Federica Balducci; Bommina Celso; Antonino Restuccia; Marina Stefani; Roberta Cernetti; Cinzia Marzocchi; Roberto Ciccone; Orsetta Zuffardi; Luciano Bovicelli; Loredana Santarini
Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: a comparison with previously described cases.
European journal of medical genetics 2008;51(6):639-45.
2008: Elena Rossi; Annalisa Verri; Maria Grazia Patricelli; Valeria Destefani; Ivana Ricca; Annalisa Vetro; Roberto Ciccone; Roberto Giorda; Daniela Toniolo; Paola Maraschio; Orsetta Zuffardi
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea.
European journal of medical genetics 2008;51(6):631-8.
2008: Silvia Maitz; Barbara Gentilin; Anna Maria Colli; Tommaso Rizzuti; Emilia Brandolisio; Annalisa Vetro; Orsetta Zuffardi; Silvana Guerneri; Faustina Lalatta
Expanding the phenotype of 22q13.3 deletion: report of a case detected prenatally.
Prenatal diagnosis 2008;28(10):978-80.
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: Roberto Giorda; M Clara Bonaglia; Greta Milani; Anna Baroncini; Francesca Spada; Silvana Beri; Giorgia Menozzi; Marianna Rusconi; Orsetta Zuffardi
Molecular and cytogenetic analysis of the spreading of X inactivation in a girl with microcephaly, mild dysmorphic features and t(X;5)(q22.1;q31.1).
European journal of human genetics : EJHG 2008;16(8):897-905.
2008: Oronzo Capozzi; Stefania Purgato; Ludovica Verdun di Cantogno; Enrico Grosso; Roberto Ciccone; Orsetta Zuffardi; Giuliano Della Valle; Mariano Rocchi
Evolutionary and clinical neocentromeres: two faces of the same coin?
Chromosoma 2008;117(4):339-44.
2008: Christian R Marshall; Edwin J Young; Ariel M Pani; Mary-Louise Freckmann; Yves Lacassie; Cédric Howald; Kristi K Fitzgerald; Maarit Peippo; Colleen A Morris; Kate Shane; Manuela Priolo; Masafumi Morimoto; Ikuko Kondo; Esra Manguoglu; Sibel Berker-Karauzum; Patrick Edery; Holly H Hobart; Carolyn Beth Mervis; Orsetta Zuffardi; Alexandre Reymond; Paige Kaplan; May Tassabehji; Ronald G Gregg; Stephen W Scherer; Lucy Osborne
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
American journal of human genetics 2008;83(1):106-11.
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: Paolo Guanciali Franchi; Giuseppe Calabrese; Elisena Morizio; Valentina Gatta; Chiara Palka; Liborio Stuppia; Orsetta Zuffardi
A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy man.
European journal of medical genetics 2008;51(3):239-44.
2008: Maria Clara Bonaglia; Roberto Giorda; Silvana Beri; Gregory B Peters; Edwin P Kirk; Dorothy Hung; Roberto Ciccone; Giulietta Gottardi; Orsetta Zuffardi
Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant.
European journal of medical genetics 2008;51(2):148-55.
2008: Elena Rossi; M Riegel; J Messa; stefania gimelli; Paola Maraschio; Roberto Ciccone; M Stroppi; Paola Riva; C S Perrotta; Teresa Mattina; L Memo; A Baumer; V Kucinskas; C Castellan; A Schinzel; Orsetta Zuffardi
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.
Journal of medical genetics 2008;45(3):147-54.
2008: Flavio Rizzolio; Silvia Bione; Cinzia Sala; Carla Tribioli; Roberto Ciccone; Orsetta Zuffardi; Natascia Di Iorgi; Mohamad Maghnie; Daniela Toniolo
Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease?
PloS one 2008;3(1):e1460.
2007: Ilse Wieland; C Weidner; Roberto Ciccone; E Lapi; Donna McDonald-McGinn; Wolfram Kress; Sibylle Jakubiczka; Hartmut Collmann; Orsetta Zuffardi; Elaine Zackai; Peter Wieacker
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.
Clinical genetics 2007;72(6):506-16.
2007: Matteo Della Monica; Fortunato Lonardo; Francesca Faravelli; Mauro Pierluigi; Daniela Varela Luquetti; Manuela De Gregori; Orsetta Zuffardi; Gioacchino Scarano
A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q.
American journal of medical genetics. Part A 2007;143A(22):2733-7.
2007: Claudia Torniero; Orsetta Zuffardi; Francesca Darra; Bernardo Dalla Bernardina
Scotosensitive and photosensitive myoclonic seizures in an infant with trisomy 13.
Epilepsia 2007;48(11):2177-80.
2007: Joris R Vermeesch; Heike Fiegler; Nicole de Leeuw; Karoly Szuhai; Jacqueline Schoumans; Roberto Ciccone; Frank Speleman; Anita Rauch; Jill Clayton-Smith; Conny van Ravenswaaij-Arts; Damien Sanlaville; Philippos C Patsalis; Helen V Firth; koenraad devriendt; Orsetta Zuffardi
Guidelines for molecular karyotyping in constitutional genetic diagnosis.
European journal of human genetics : EJHG 2007;15(11):1105-14.
2007: Daniela Concolino; Elena Rossi; Pietro Strisciuglio; Maria Antonietta Iembo; Roberto Giorda; Roberto Ciccone; Romano Tenconi; Orsetta Zuffardi
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome.
Journal of medical genetics 2007;44(10):647-50.
2007: Maria Ester Bernardo; Nadia Zaffaroni; Francesca Novara; Angela Cometa; Maria Antonietta Avanzini; Antonia Moretta; Daniela Montagna; Rita Maccario; Raffaella Villa; Maria Grazia Daidone; Orsetta Zuffardi; Franco Locatelli
Human bone marrow derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not exhibit telomere maintenance mechanisms.
Cancer research 2007;67(19):9142-9.
2007: Fortunato Lonardo; Giancarlo Parenti; Daniela Varela Luquetti; Ida Annunziata; Matteo Della Monica; Lucia Perone; Manuela De Gregori; Orsetta Zuffardi; Nicola Brunetti-Pierri; Generoso Andria; Gioacchino Scarano
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.
European journal of medical genetics 2007;50(4):301-8.
2007: Giorgio Gimelli; Roberto Giorda; Silvana Beri; stefania gimelli; Orsetta Zuffardi
A large analphoid invdup(3)(q22.3qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko's lines.
European journal of medical genetics 2007;50(4):264-73.
2007: Elisa Benetti; Lina Artifoni; Leonardo Salviati; Luisa Pinello; Silverio Perrotta; Orsetta Zuffardi; Graziella Zacchello; Luisa Murer
Renal hypoplasia without optic coloboma associated with PAX2 gene deletion.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2007;22(7):2076-8.
2007: Renata Bocciardi; Roberto Giorda; Jens Buttgereit; stefania gimelli; Maria Teresa Divizia; Silvana Beri; Silvio Garofalo; Sara Tavella; Margherita Lerone; Orsetta Zuffardi; Michael Bader; Roberto Ravazzolo; Giorgio Gimelli
Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation.
Human mutation 2007;28(7):724-31.
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: Maria Ester Bernardo; Maria Antonietta Avanzini; Cesare Perotti; Angela Cometa; Antonia Moretta; Elisa Lenta; Claudia Del Fante; Francesca Novara; Annalisa De Silvestri; Giovanni Amendola; Orsetta Zuffardi; Rita Maccario; Franco Locatelli
Optimization of in vitro expansion of human multipotent mesenchymal stromal cells for cell-therapy approaches: further insights in the search for a fetal calf serum substitute.
Journal of cellular physiology 2007;211(1):121-30.
2007: andrew sharp; Rebecca R Selzer; Joris Veltman; stefania gimelli; Giorgio Gimelli; Pasquale Striano; Antonietta Coppola; Regina Regan; Sue M Price; Nine V A M Knoers; Peggy S Eis; Han G Brunner; Raoul Hennekam; Samantha J L Knight; Bert B A de Vries; Orsetta Zuffardi; Evan E Eichler
Characterization of a recurrent 15q24 microdeletion syndrome.
Human molecular genetics 2007;16(5):567-72.
2007: Emanuele Panza; Giorgio Gimelli; Mario Passalacqua; Amnon Cohen; stefania gimelli; Sabrina Giglio; Cristina Ghezzi; Bianca Sparatore; Babett Heye; Orsetta Zuffardi; Elena I Rugarli; Thomas Meitinger; Giovanni Romeo; Roberto Ravazzolo; Marco Seri
The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies.
International journal of molecular medicine 2007;19(3):429-35.
2007: Manuela Priolo; Roberto Ciccone; Irene Bova; Giovanna Campolo; Carmelo Laganà; Orsetta Zuffardi
Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH.
European journal of medical genetics 2007;50(2):139-43.
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: Lucia Ballarati; Elena Rossi; Maria Teresa Bonati; stefania gimelli; Paola Maraschio; Palma Finelli; Sabrina Giglio; Elisabetta Lapi; Maria Francesca Bedeschi; Silvana Guerneri; Giulia Arrigo; Maria Grazia Patricelli; Teresa Mattina; Oriana Guzzardi; Vanna Pecile; Adalgisa Police; Gioacchino Scarano; Lidia Larizza; Orsetta Zuffardi; Daniela Giardino
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.
Journal of medical genetics 2007;44(1):e60.
2007: Maria Addis; Cristiana Meloni; Rita Congiu; Simona Santaniello; francesco emma; Orsetta Zuffardi; Roberto Ciccone; Antonio Cao; Maria Antonietta Melis; Milena Cau
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome.
European journal of medical genetics 2007;50(1):79-84.
2007: Chiara Pescucci; Richard Caselli; Grosso Salvatore; Maria Antonietta Mencarelli; Francesca Mari; Maria Angela Farnetani; B Piccini; Rosangela Artuso; Mirella Bruttini; Manuela Priolo; Orsetta Zuffardi; stefania gimelli; Paolo Balestri; Alessandra Renieri
2q24-q31 deletion: report of a case and review of the literature.
European journal of medical genetics 2007;50(1):21-32.
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: Leonardo Salviati; Mariagrazia Patricelli; Graziella Guariso; Giacomo Carlo Sturniolo; Rita Alaggio; Franca Bernardi; Orsetta Zuffardi; Romano Tenconi
Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy.
American journal of human genetics 2006;79(3):593-6; author reply 596-7.
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.
2006: Milena Cau; Maria Addis; Rita Congiu; Cristiana Meloni; Antonio Cao; Simona Santaniello; Mario Loi; francesco emma; Orsetta Zuffardi; Roberto Ciccone; Gabriella Sole; Maria Antonietta Melis
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.
Journal of human genetics 2006;51(11):1030-6.
2006: Giorgio Gimelli; Roberto Giorda; Silvana Beri; stefania gimelli; Orsetta Zuffardi
A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies.
American journal of medical genetics. Part A 2006;140(1):40-5.
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: Silvia Bione; Flavio Rizzolio; Cinzia Sala; Roberta Ricotti; Mara Goegan; M C Manzini; R Battaglia; ANNA Marozzi; Walter Vegetti; Leda Dalprà; Pier Giorgio Crosignani; Enrico Ginelli; R Nappi; S Bernabini; V Bruni; Francesca Torricelli; Orsetta Zuffardi; Daniela Toniolo
Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.
Human reproduction (Oxford, England) 2004;19(12):2759-66.
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.
2004: Domenica Taruscio; Vincenzo Falbo; Giovanna Floridia; Marco Salvatore; Chiara Pescucci; Alfredo Cantafora; Cesarina Marongiu; Anna Baroncini; Elisa Calzolari; Antonio Cao; Giuseppe Castaldo; Franca Dagna Bricarelli; Ginevra Guanti; Lucio Nitsch; Pier Franco Pignatti; Cristina Rosatelli; Francesco Salvatore; Orsetta Zuffardi
Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance.
Clinical chemistry and laboratory medicine : CCLM / FESCC 2004;42(8):915-21.
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: ventura Mario; Jonathan M Mudge; Valeria Palumbo; Sally Burn; Elisabeth Blennow; Mauro Pierluigi; Roberto Giorda; Orsetta Zuffardi; Nicoletta Archidiacono; Michael S Jackson; Mariano Rocchi
Neocentromeres in 15q24-26 map to duplicons which flanked an ancestral centromere in 15q25.
Genome research 2003;13(9):2059-68.
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.
2003: Giorgio Gimelli; Miguel Angel Pujana; Maria Grazia Patricelli; Silvia Russo; Daniela Giardino; Lidia Larizza; Joseph Cheung; Lluis Armengol; Albert Schinzel; Xavier Estivill; Orsetta Zuffardi
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions.
Human molecular genetics 2003;12(8):849-58.
2003: Carla Battisti; Maria Clara Bonaglia; Sabrina Giglio; Cecilia Anichini; Lucia Pucci; Maria Teresa Dotti; Orsetta Zuffardi; A Federico
De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities.
American journal of medical genetics. Part A 2003;117A(3):207-11.
2003: Marcella Zollino; Cesare Colosimo; Orsetta Zuffardi; Elena Rossi; Alessandra Tosolini; Christopher Walsh; Giovanni Neri
Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait.
American journal of medical genetics. Part A 2003;117A(1):65-71.
2002: Maria Clara Bonaglia; Roberto Giorda; Rosalba Carrozzo; Maria Elena Roncoroni; Rita Grasso; Renato Borgatti; Orsetta Zuffardi
20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: narrowing of the 9p duplication critical region to 6 Mb.
American journal of medical genetics 2002;112(2):154-9.
2002: Giorgio Gimelli; Sabrina Giglio; Orsetta Zuffardi; Leena Alhonen; Suvikki Suppola; Roberto Cusano; Cristiana Lo Nigro; Rosanna Gatti; Roberto Ravazzolo; Marco Seri
Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD).
Human genetics 2002;111(3):235-41.
2002: Sabrina Giglio; Vladimiro Calvari; Giuliana Gregato; Giorgio Gimelli; Silvia Camanini; Roberto Giorda; Angela Ragusa; Silvana Guerneri; Angelo Selicorni; Marcus Stumm; Holger Tonnies; Mario Ventura; Marcella Zollino; Giovanni Neri; John Barber; Dagmar Wieczorek; Mariano Rocchi; Orsetta Zuffardi
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation.
American journal of human genetics 2002;71(2):276-85.
2001: Maria Clara Bonaglia; Roberto Giorda; Renato Borgatti; G Felisari; Chiara Gagliardi; Angelo Selicorni; Orsetta Zuffardi
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.
American journal of human genetics 2001;69(2):261-8.
2001: E Rossi; F Piccini; Marcella Zollino; Giovanni Neri; Desiree Caselli; Romano Tenconi; C Castellan; R Carrozzo; Cesare Danesino; Orsetta Zuffardi; Angela Ragusa; Lucia Castiglia; Ornella Galesi; D Greco; Corrado Romano; Mauro Pierluigi; C Perfumo; Maja Di Rocco; Francesca Faravelli; Franca Dagna Bricarelli; Maria Clara Bonaglia; Maria Francesca Bedeschi; Renato Borgatti
Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations.
Journal of medical genetics 2001;38(6):417-20.
2001: Sabrina Giglio; Karl W Broman; N Matsumoto; Vladimiro Calvari; Giorgio Gimelli; T Neumann; H Ohashi; L Voullaire; D Larizza; Roberto Giorda; James L Weber; David Ledbetter; Orsetta Zuffardi
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements.
American journal of human genetics 2001;68(4):874-83.
2000: Giovanna Floridia; Adriana Zatterale; Orsetta Zuffardi; Chris Tyler-Smith
Mapping of a human centromere onto the DNA by topoisomerase II cleavage.
EMBO reports 2000;1(6):489-93.
2000: Maria Clara Bonaglia; Roberto Giorda; G Poggi; M E Raggi; E Rossi; Anna Baroncini; Sabrina Giglio; Renato Borgatti; Orsetta Zuffardi
Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q.
European journal of human genetics : EJHG 2000;8(8):597-603.
2000: Sabrina Giglio; Sharon L Graw; Giorgio Gimelli; Barbara Pirola; P Varone; L Voullaire; F Lerzo; E Rossi; C Dellavecchia; Maria Clara Bonaglia; M C Digilio; A Giannotti; B Marino; Rosalba Carrozzo; julie R korenberg; Cesare Danesino; E Sujansky; B Dallapiccola; Orsetta Zuffardi
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects.
Circulation 2000;102(4):432-7.
2000: Vladimiro Calvari; Valeria Bertini; A De Grandi; G Peverali; Orsetta Zuffardi; M Ferguson-Smith; J Knudtzon; Giovanna Camerino; Giuseppe Borsani; S Guioli
A new submicroscopic deletion that refines the 9p region for sex reversal.
Genomics 2000;65(3):203-12.
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.
2000: Giorgio Gimelli; Orsetta Zuffardi; Sabrina Giglio; C Zeng; D He
CENP-G in neocentromeres and inactive centromeres.
Chromosoma 2000;109(5):328-33.
2000: Giovanna Floridia; Giorgio Gimelli; Orsetta Zuffardi; William C Earnshaw; PE Warburton; Chris Tyler-Smith
A neocentromere in the DAZ region of the human Y chromosome.
Chromosoma 2000;109(5):318-27.
2000: Sabrina Giglio; Barbara Pirola; Giulia Arrigo; P Dagrada; Barbara Bardoni; F Bernardi; G Russo; L Argentiero; Antonino Forabosco; Rosalba Carrozzo; Orsetta Zuffardi
Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements.
European journal of human genetics : EJHG 2000;8(1):63-70.
1999: Alexandre Reymond; Sara Volorio; Giuseppe Merla; M Al-Maghtheh; Orsetta Zuffardi; Alessandro Bulfone; Andrea Ballabio; Massimo Zollo
Evidence for interaction between human PRUNE and nm23-H1 NDPKinase.
Oncogene 1999;18(51):7244-52.
1999: Chris Tyler-Smith; Giorgio Gimelli; Sabrina Giglio; Giovanna Floridia; A Pandya; G Terzoli; PE Warburton; William C Earnshaw; Orsetta Zuffardi
Transmission of a fully functional human neocentromere through three generations.
American journal of human genetics 1999;64(5):1440-4.
1999: A Fogli; Sabrina Giglio; Giulia Arrigo; Cristiana Lo Nigro; Massimo Zollo; Luigi Viggiano; Mariano Rocchi; Nicoletta Archidiacono; Orsetta Zuffardi; Rosalba Carrozzo
Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes.
Cytogenetics and cell genetics 1999;86(3-4):225-32.
1999: M Volta; Alessandro Bulfone; C Gattuso; E Rossi; Margherita Mariani; G Giacomo Consalez; Orsetta Zuffardi; Andrea Ballabio; Sandro Banfi; Brunella Franco
Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene.
Genomics 1999;55(1):68-77.
1998: Barbara Pirola; L Bortotto; Sabrina Giglio; E Piovan; A Janes; Renzo Guerrini; Orsetta Zuffardi
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25.
Journal of medical genetics 1998;35(12):1031-3.
1998: Maria Paola Canevini; V Sgro; Orsetta Zuffardi; Raffaele Canger; R Carrozzo; E Rossi; David Ledbetter; F Minicucci; Aglaia Vignoli; Ada Piazzini; L Guidolin; A Saltarelli; Bernardo Dalla Bernardina
Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern.
Epilepsia 1998;39(9):942-51.
1998: Francesca Sanvito; Giulia Arrigo; Orsetta Zuffardi; M Agnelli; Pier Carlo Marchisio; Stefano Biffo
Localization of p27 beta 4 binding protein gene (ITGB4BP) to human chromosome region 20q11.2.
Genomics 1998;52(1):111-2.
1998: L de Conciliis; Anna Marchitiello; M C Wapenaar; Giuseppe Borsani; S Giglio; Margherita Mariani; G Giacomo Consalez; Orsetta Zuffardi; Brunella Franco; Andrea Ballabio; Sandro Banfi
Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains.
Genomics 1998;51(2):243-50.
1998: C Galli-Stauber; G Raho; D Rossi; davide corona; Barbara Pirola; Maria Clara Bonaglia; Orsetta Zuffardi; Vincenzo Sorrentino
Genomic structure and chromosomal location of the human TGFbeta-receptor interacting protein-1 (TRIP-1) gene to 1p34.1.
FEBS letters 1998;426(2):279-82.
1998: Maria Pia Sperandeo; Giuseppe Borsani; B Incerti; Massimo Zollo; E Rossi; Orsetta Zuffardi; Pasqualina Castaldo; Maurizio Taglialatela; Generoso Andria; Gianfranco Sebastio
The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome.
Genomics 1998;49(2):230-6.
1998: Silvia Bione; Cinzia Sala; C Manzini; Giulia Arrigo; Orsetta Zuffardi; S Banfi; Giuseppe Borsani; P Jonveaux; C Philippe; Maurizio Zuccotti; Andrea Ballabio; Daniela Toniolo
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility.
American journal of human genetics 1998;62(3):533-41.
1998: L Dal Zotto; NA Quaderi; R Elliott; P A Lingerfelter; Laura Carrel; V Valsecchi; Eugenio Montini; C H Yen; Verne M Chapman; I Kalcheva; Giulia Arrigo; Orsetta Zuffardi; S Thomas; Huntington F Willard; Andrea Ballabio; Christine M Disteche; Elena I Rugarli
The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region.
Human molecular genetics 1998;7(3):489-99.
1998: P Fumagalli; M Accarino; Aliana Egeo; Paolo Scartezzini; G Rappazzo; Antonio Pizzuti; V Avvantaggiato; A Simeone; Giulia Arrigo; Orsetta Zuffardi; Sergio Ottolenghi; Roberto Taramelli
Human NRD convertase: a highly conserved metalloendopeptidase expressed at specific sites during development and in adult tissues.
Genomics 1998;47(2):238-45.
1997: Rosalba Carrozzo; Giulia Arrigo; E Rossi; Barbara Bardoni; M Cammarata; P Gandullia; R Gatti; Orsetta Zuffardi
Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X) (pter-->q24::q21.32-->qter) and random X inactivation.
American journal of medical genetics 1997;72(3):329-34.
1997: R Carrozzo; E Rossi; Susan L Christian; K Kittikamron; C Livieri; Andrea Corrias; Lucia Pucci; Alberto Fois; P Simi; Laura Bosio; Luciano Beccaria; Orsetta Zuffardi; David Ledbetter
Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome.
American journal of human genetics 1997;61(1):228-31.
1997: M Piantanida; C Dellavecchia; Giovanna Floridia; Sabrina Giglio; H Hoeller; B Dordi; Cesare Danesino; A Schinzel; Orsetta Zuffardi
Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?
Human genetics 1997;99(6):766-71.
1997: Giulia Arrigo; Roberto Gherzi; Maria Clara Bonaglia; Alessandra Leprini; Orsetta Zuffardi; Luciano Zardi
Assignment of the tenascin-R gene (Tnr) to mouse chromosome 4 band E2 by fluorescence in situ hybridization; refinement of the human TNR location to chromosome 1q24.
Cytogenetics and cell genetics 1997;78(2):145-6.
1996: N Mastroianni; Maurizio De Fusco; Massimo Zollo; Giulia Arrigo; Orsetta Zuffardi; Alberto Bettinelli; A Ballabio; Giorgio Casari
Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3).
Genomics 1996;35(3):486-93.
1996: Sandro Banfi; Giuseppe Borsani; E Rossi; L Bernard; Alessandro Guffanti; F Rubboli; Anna Marchitiello; Sabrina Giglio; E Coluccia; Massimo Zollo; Orsetta Zuffardi; A Ballabio
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching.
Nature genetics 1996;13(2):167-74.
1996: Giovanna Floridia; M Piantanida; Antonella Minelli; C Dellavecchia; C Bonaglia; E Rossi; Giorgio Gimelli; G Croci; F Franchi; S Gilgenkrantz; P Grammatico; L Dalprá; S Wood; Cesare Danesino; Orsetta Zuffardi
The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications.
American journal of human genetics 1996;58(4):785-96.
1996: Paola Maraschio; Rossella Tupler; E Rossi; L Barbierato; F Uccellatore; M Rocchi; Orsetta Zuffardi; M Fraccaro
A novel mechanism for the origin of supernumerary marker chromosomes.
Human genetics 1996;97(3):382-6.
1995: E Zanaria; Barbara Bardoni; B Dabovic; V Calvari; M Fraccaro; Orsetta Zuffardi; G Camerino
Xp duplications and sex reversal.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences 1995;350(1333):291-6.
1995: C Kwok; P A Weller; S Guioli; J W Foster; S Mansour; Orsetta Zuffardi; H H Punnett; M A Dominguez-Steglich; J D Brook; I D Young
Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.
American journal of human genetics 1995;57(5):1028-36.
1994: E Rossi; Antonio Faiella; M Zeviani; S Labeit; Giovanna Floridia; S Brunelli; M Cammarata; Edoardo Boncinelli; Orsetta Zuffardi
Order of six loci at 2q24-q31 and orientation of the HOXD locus.
Genomics 1994;24(1):34-40.
1994: Cinzia Gellera; E Verderio; Giovanna Floridia; Gaetano Finocchiaro; L Montermini; Patrizia Cavadini; Orsetta Zuffardi; Franco Taroni
Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32.
Genomics 1994;24(1):195-7.
1994: M Stevanovic; Orsetta Zuffardi; J Collignon; Robin Lovell-Badge; P Goodfellow
The cDNA sequence and chromosomal location of the human SOX2 gene.
Mammalian genome : official journal of the International Mammalian Genome Society 1994;5(10):640-2.
1994: M C Digilio; A Giannotti; Giovanna Floridia; F Uccellatore; R Mingarelli; Cesare Danesino; B Dallapiccola; Orsetta Zuffardi
Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development.
Journal of medical genetics 1994;31(3):238-41.
1994: A Pezzolo; Giorgio Gimelli; M Sposito; U Giussani; E Rossi; Orsetta Zuffardi
Definitive assignment of the growth hormone-releasing factor gene to 20q11.2.
Human genetics 1994;93(2):213-4.
1993: Chris Tyler-Smith; R J Oakey; Zoia Larin; R B Fisher; M Crocker; Nabeel A Affara; M A Ferguson-Smith; M Muenke; Orsetta Zuffardi; Mark A Jobling
Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomes.
Nature genetics 1993;5(4):368-75.
1993: E Rossi; Giovanna Floridia; M Casali; Cesare Danesino; Giuseppe Chiumello; F Bernardi; I Magnani; Laura Papi; M Mura; Orsetta Zuffardi
Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences.
Journal of medical genetics 1993;30(11):926-31.
1993: A Pezzolo; Giorgio Gimelli; A Cohen; A Lavaggetto; C Romano; G Fogu; Orsetta Zuffardi
Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability.
Human genetics 1993;92(1):23-7.
1993: V Briscioli; Giovanna Floridia; E Rossi; Angelo Selicorni; Faustina Lalatta; Orsetta Zuffardi
Trisomy 10qter confirmed by in situ hybridisation.
Journal of medical genetics 1993;30(7):601-3.
1993: Barbara Bardoni; Giovanna Floridia; S Guioli; G Peverali; C Anichini; M Cisternino; R Casalone; Cesare Danesino; M Fraccaro; Orsetta Zuffardi
Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq.
Human genetics 1993;91(4):333-8.
1993: Gian Marco Ghiggeri; Gianluca Caridi; P Altieri; A Pezzolo; Giorgio Gimelli; Orsetta Zuffardi
Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus?
Human genetics 1993;91(2):175-7.
1993: E Rossi; Raffaele Zarrilli; Orsetta Zuffardi
Regional assignment of the gene coding for a human Graves' disease autoantigen to 10q21.3-q22.1.
Human genetics 1993;90(6):653-4.
1992: R Avarello; A Pedicini; A Caiulo; Orsetta Zuffardi; M Fraccaro
Evidence for an ancestral alphoid domain on the long arm of human chromosome 2.
Human genetics 1992;89(2):247-9.
1992: Paolo Simi; M Ceccarelli; A Barachini; Giovanna Floridia; Orsetta Zuffardi
The unbalanced offspring of the male carriers of the 11q;22q translocation: nondisjunction at meiosis II in a balanced spermatocyte.
Human genetics 1992;88(4):482-3.
1991: A Ballabio; Massimo Zollo; R Carrozzo; A Caiulo; Orsetta Zuffardi; C F Cascioli; D Viggiano; Pietro Strisciuglio
Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency.
American journal of medical genetics 1991;41(2):184-7.
1991: A Pedicini; G Camerino; R Avarello; S Guioli; Orsetta Zuffardi
Probe St35-239 (DXYS64) reveals homology between the distal ends of Xq and Yq.
Genomics 1991;11(2):482-3.
1991: Barbara Bardoni; Orsetta Zuffardi; S Guioli; A Ballabio; Paolo Simi; P Cavalli; M G Grimoldi; M Fraccaro; G Camerino
A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis.
Genomics 1991;11(2):443-51.
1991: A Caiulo; S Nicolis; P Bianchi; Orsetta Zuffardi; Barbara Bardoni; Paola Maraschio; Sergio Ottolenghi; G Camerino; B Giglioni
Mapping the gene encoding the human erythroid transcriptional factor NFE1-GF1 to Xp11.23.
Human genetics 1991;86(4):388-90.
1991: Emanuela Maserati; Francesco Pasquali; Orsetta Zuffardi; P Buttitta; C Cuoco; G Defant; Giorgio Gimelli; M Fraccaro
Roberts syndrome: phenotypic variation, cytogenetic definition and heterozygote detection.
Annales de génétique 1991;34(3-4):239-46.
1990: H Rivera; Orsetta Zuffardi; Livio Gargantini
Nonreciprocal and jumping translocations of 15q1----qter in Prader-Willi syndrome.
American journal of medical genetics 1990;37(3):311-7.
1990: Paola Maraschio; Orsetta Zuffardi; A Caiulo; E Dainotti; M Piantanida; H Rivera; Rossella Tupler
Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation.
Human genetics 1990;85(5):491-4.
1989: H Rivera; Orsetta Zuffardi; Paola Maraschio; A Caiulo; C Anichini; R Scarinci; R Vivarelli
Alternate centromere inactivation in a pseudodicentric (15;20)(pter;pter) associated with a progressive neurological disorder.
Journal of medical genetics 1989;26(10):626-30.
1989: Orsetta Zuffardi; A Caiulo
[An update on gonadal differentiation].
La Pediatria medica e chirurgica : Medical and surgical pediatrics 1989;11(5):481-4.
1989: Laura Papi; E Montali; G Marconi; R Guazzelli; U Bigozzi; P Maraschio; Orsetta Zuffardi
Evidence for a human mitotic mutant with pleiotropic effect.
Annals of human genetics 1989;53(Pt 3):243-8.
1989: Orsetta Zuffardi; A Caiulo; Paola Maraschio; Rossella Tupler; E Bianchi; P Amisano; Giampiero Beluffi; R Moratti; gianfranco liguri
Regional assignment of the loci for adenylate kinase to 9q32 and for alpha 1-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in region 9q32-qter?
Human genetics 1989;82(1):17-9.
1988: R Vivarelli; Orsetta Zuffardi; Paola Maraschio; C Anichini; R Scarinci
A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosomes 2;7 and 5;20.
Human genetics 1988;79(4):385-8.
1988: Paola Maraschio; Orsetta Zuffardi; T Dalla Fior; Luciano Tiepolo
Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome.
Journal of medical genetics 1988;25(3):173-80.
1987: Orsetta Zuffardi; Livio Gargantini; S Lambiase; F Lo Curto; Paola Maraschio; C E Ford
Presumptive mosaic origin of an XX/XY female with ambiguous genitalia.
Journal of medical genetics 1987;24(3):177-80.
1986: Paola Maraschio; D Peretti; S Lambiase; F Lo Curto; D Caufin; Livio Gargantini; L Minoli; Orsetta Zuffardi
A new chromosome instability disorder.
Clinical genetics 1986;30(5):353-65.
1986: D Peretti; Paola Maraschio; S Lambiase; F Lo Curto; Orsetta Zuffardi
Indirect immunofluorescence of inactive centromeres as indicator of centromeric function.
Human genetics 1986;73(1):12-6.
1985: Giorgio Gimelli; C Cuoco; M Lituania; M Cordone; M Aricò; E Bianchi; Paola Maraschio; Orsetta Zuffardi
Dup(3)(p2----pter) in two families, including one infant with cyclopia.
American journal of medical genetics 1985;20(2):341-8.
1984: S Lambiase; Paola Maraschio; Orsetta Zuffardi
The Cd technique identifies a specific structure related to centromeric function.
Human genetics 1984;67(2):214-5.
1984: Paola Maraschio; Cesare Danesino; F Lo Curto; Orsetta Zuffardi; T Dalla Fior; D Pedrotti
A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage.
Annales de génétique 1984;27(2):96-101.
1983: M Fraccaro; Orsetta Zuffardi; E Bühler; A Schinzel; G Simoni; R Witkowski; E Bonifaci; D Caufin; G Cignacco; N Delendi
Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment.
Human genetics 1983;64(4):388-94.
1982: Orsetta Zuffardi; Paola Maraschio; F Lo Curto; U Müller; A Giarola; L Perotti
The role of Yp in sex determination: new evidence from X/Y translocations.
American journal of medical genetics 1982;12(2):175-84.
1982: C Cuoco; Giorgio Gimelli; Francesco Pasquali; L Poloni; Orsetta Zuffardi; P Alicata; G Battaglino; F Bernardi; R Cerone; M Cotellessa; A Ghidoni; S Motta
Duplication of the short arm of chromosome 9. Analysis of five cases.
Human genetics 1982;61(1):3-7.
1982: H H Ropers; Orsetta Zuffardi; E Bianchi; Luciano Tiepolo
Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation.
Human genetics 1982;61(4):364-8.
1981: Paola Maraschio; Orsetta Zuffardi; F Bernardi; M Bozzola; C De Paoli; C Fonatsch; S D Flatz; L Ghersini; Giorgio Gimelli; M Loi; R Lorini; D Peretti; L Poloni; D Tonetti; Roberta Vanni; G Zamboni
Preferential maternal derivation in inv dup(15): analysis of eight new cases.
Human genetics 1981;57(4):345-50.
1981: A Schinzel; W Schmid; M Fraccaro; Luciano Tiepolo; Orsetta Zuffardi; J M Opitz; J Lindsten; P Zetterqvist; H Enell; C Baccichetti; Romano Tenconi; R A Pagon
The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.
Human genetics 1981;57(2):148-58.
1980: A Garau; G Crisponi; D Peretti; Roberta Vanni; Orsetta Zuffardi
Trisomy 16q21 = to qter.
Human genetics 1980;53(2):165-7.
1980: Orsetta Zuffardi; C Danesino; L Poloni; F Pavesi; C Bianchi; Livio Gargantini
Ring chromosome and latent centromeres.
Cytogenetics and cell genetics 1980;28(3):151-7.
1980: G Guanti; Orsetta Zuffardi; Luciano Tiepolo
rDNA levels in infertile male carriers of Robertsonian translocations.
Cytogenetics and cell genetics 1980;27(2-3):162-7.
1980: Paola Maraschio; Orsetta Zuffardi; F Lo Curto
Cd bands and centromeric function in dicentric chromosomes.
Human genetics 1980;54(2):265-7.
1980: Luciano Tiepolo; Orsetta Zuffardi; M Fraccaro; D di Natale; Livio Gargantini; C R Müller; H H Ropers
Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223.
Human genetics 1980;54(2):205-6.