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Orsetta Zuffardi

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Infant

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Novara Francesca; Arcaini Luca; Merli Michele; Passamonti Francesco; Zibellini Silvia; Rizzi Silvia; Rattotti Sara; Rumi Elisa; Pascutto Cristiana; Vetro Annalisa; Astori Cesare; Boveri Emanuela; Lucioni Marco; Paulli Marco; Zuffardi Orsetta; Lazzarino Mario
High-resolution genome-wide array comparative genomic hybridization in splenic marginal zone B-cell lymphoma.
Piaggio Giovanna; Rosti Vittorio; Corselli Mirko; Bertolotti Francesca; Bergamaschi Gaetano; Pozzi Sarah; Imperiale Davide; Chiavarina Barbara; Bonetti Elisa; Novara Francesca; Sessarego Mario; Villani Laura; Garuti Anna; Massa Margherita; Ghio Riccardo; Campanelli Rita; Bacigalupo Andrea; Pecci Alessandro; Viarengo Gianluca; Zuffardi Orsetta; Frassoni Francesco; Barosi Giovanni
Endothelial colony-forming cells from patients with chronic myeloproliferative disorders lack the disease-specific molecular clonality marker.
Novara Francesca; Beri Silvana; Bernardo Maria Ester; Bellazzi Riccardo; Malovini Alberto; Ciccone Roberto; Cometa Angela Maria; Locatelli Franco; Giorda Roberto; Zuffardi Orsetta
Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood.

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All Publications

2009: Novara Francesca; Arcaini Luca; Merli Michele; Passamonti Francesco; Zibellini Silvia; Rizzi Silvia; Rattotti Sara; Rumi Elisa; Pascutto Cristiana; Vetro Annalisa; Astori Cesare; Boveri Emanuela; Lucioni Marco; Paulli Marco; Zuffardi Orsetta; Lazzarino Mario
High-resolution genome-wide array comparative genomic hybridization in splenic marginal zone B-cell lymphoma.
Human pathology 2009;40(11):1628-37.
2009: Piaggio Giovanna; Rosti Vittorio; Corselli Mirko; Bertolotti Francesca; Bergamaschi Gaetano; Pozzi Sarah; Imperiale Davide; Chiavarina Barbara; Bonetti Elisa; Novara Francesca; Sessarego Mario; Villani Laura; Garuti Anna; Massa Margherita; Ghio Riccardo; Campanelli Rita; Bacigalupo Andrea; Pecci Alessandro; Viarengo Gianluca; Zuffardi Orsetta; Frassoni Francesco; Barosi Giovanni
Endothelial colony-forming cells from patients with chronic myeloproliferative disorders lack the disease-specific molecular clonality marker.
Blood 2009;114(14):3127-30.
2009: Novara Francesca; Beri Silvana; Bernardo Maria Ester; Bellazzi Riccardo; Malovini Alberto; Ciccone Roberto; Cometa Angela Maria; Locatelli Franco; Giorda Roberto; Zuffardi Orsetta
Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood.
Human genetics 2009;126(4):511-20.
2009: Carboni Ilaria; Andreucci Elena; Caruso Maria R; Ciccone Roberto; Zuffardi Orsetta; Genuardi Maurizio; Pela Ivana; Giglio Sabrina
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: Rizzolio F; Pramparo T; Sala C; Zuffardi O; De Santis L; Rabellotti E; Calzi F; Fusi F; Bellazzi R; Toniolo D
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: Thauvin-Robinet Christel; Callier Patrick; Franco Brunella; Zuffardi Orsetta; Payet Muriel; Aral Bernard; Gigot Nadège; Donzel Anne; Mosca-Boidron Anne-Laure; Masurel-Paulet Alice; Huet Frédéric; Teyssier Jean-Raymond; Mugneret Francine; Faivre Laurence
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: Zuffardi O; Bonaglia M; Ciccone R; Giorda R
Inverted duplications deletions: underdiagnosed rearrangements??
Clinical genetics 2009;75(6):505-13.
2009: Pezzolo Annalisa; Rossi Elena; Gimelli Stefania; Parodi Federica; Negri Francesca; Conte Massimo; Pistorio Angela; Sementa Angela; Pistoia Vito; Zuffardi Orsetta; Gambini Claudio
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: Bonaglia Maria Clara; Giorda Roberto; Beri Silvana; Bigoni Stefania; Sensi Alberto; Baroncini Anna; Capucci Antonella; De Agostini Cristina; Gwilliam Rhian; Deloukas Panos; Dunham Ian; Zuffardi Orsetta
Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion.
European journal of human genetics : EJHG 2009;17(4):426-33.
2009: Clayton-Smith Jill; Walters Sarah; Hobson Emma; Burkitt-Wright Emma; Smith Rupert; Toutain Annick; Amiel Jeanne; Lyonnet Stanislas; Mansour Sahar; Fitzpatrick David; Ciccone Roberto; Ricca Ivana; Zuffardi Orsetta; Donnai Dian
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: Cardoso C; Boys A; Parrini E; Mignon-Ravix C; McMahon J M; Khantane S; Bertini E; Pallesi E; Missirian C; Zuffardi O; Novara F; Villard L; Giglio S; Chabrol B; Slater H R; Moncla A; Scheffer I E; Guerrini R
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.
Neurology 2009;72(9):784-92.
2009: Magnani Cinzia; Tedesco Salvatore Antonio; Dallaglio Sara; Sommi Marcello; Bacchini Ermanno; Vetro Annalisa; Zuffardi Orsetta; Bevilacqua Giulio
Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome?
American journal of medical genetics. Part A 2009;149A(4):737-41.
2009: Bonaglia Maria Clara; Giorda Roberto; Massagli Angelo; Galluzzi Rita; Ciccone Roberto; Zuffardi Orsetta
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: Bernardo Maria Ester; Avanzini Maria Antonia; Ciccocioppo Rachele; Perotti Cesare; Cometa Angela Maria; Moretta Antonia; Marconi Massimo; Valli Monica; Novara Francesca; Bonetti Federico; Zuffardi Orsetta; Maccario Rita; Corazza Gino Roberto; Locatelli Franco
Phenotypical/functional characterization of in vitro-expanded mesenchymal stromal cells from patients with Crohn's disease.
Cytotherapy 2009;11(7):825-36.
2009: Gimelli Stefania; Beri Silvana; Drabkin Harry A; Gambini Claudio; Gregorio Andrea; Fiorio Patrizia; Zuffardi Orsetta; Gemmill Robert M; Giorda Roberto; Gimelli Giorgio
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: Belligni Elga F; Biamino Elisa; Molinatto Cristina; Messa Jole; Pierluigi Mauro; Faravelli Francesca; Zuffardi Orsetta; Ferrero Giovanni B; Silengo Margherita Cirillo
Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.
Rivista italiana di pediatria = The Italian journal of pediatrics 2009;35(1):9.
2008: Nucaro Anna Lisa; Meloni Marta; Pisano Tiziana; Melis Paola; Rossi Elena; Rossino Rossano; Corona Simona; Loi Mario; Achena Francesco; Zuffardi Orsetta; Cianchetti Carlo
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: Vetro Annalisa; Iasci Angela; Dal Bello Barbara; Rossi Elena; Messa Jole; Montanari Laura; Cesari Stefania; Zuffardi Orsetta
A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogenetics.
Prenatal diagnosis 2008;28(12):1171-3.
2008: Bonaglia Maria Clara; Ciccone Roberto; Gimelli Giorgio; Gimelli Stefania; Marelli Susan; Verheij Joke; Giorda Roberto; Grasso Rita; Borgatti Renato; Pagone Filomena; Rodrìguez Laura; Martinez-Frias Maria-Luisa; van Ravenswaaij Conny; Zuffardi Orsetta
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: Rossi E; Messa J; Zuffardi O
Ring syndrome: still true?
Journal of medical genetics 2008;45(11):766-8.
2008: Tempesta Sergio; Sollima Danila; Ghezzo Sara; Politi Valeria; Sinigaglia Barbara; Balducci Federica; Celso Bommina; Restuccia Antonino; Stefani Marina; Cernetti Roberta; Marzocchi Cinzia; Ciccone Roberto; Zuffardi Orsetta; Bovicelli Luciano; Santarini Loredana
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: Rossi Elena; Verri Anna Pia; Patricelli Maria Grazia; Destefani Valeria; Ricca Ivana; Vetro Annalisa; Ciccone Roberto; Giorda Roberto; Toniolo Daniela; Maraschio Paola; Zuffardi Orsetta
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: Maitz Silvia; Gentilin Barbara; Colli Anna Maria; Rizzuti Tommaso; Brandolisio Emilia; Vetro Annalisa; Zuffardi Orsetta; Guerneri Silvana; Lalatta Faustina
Expanding the phenotype of 22q13.3 deletion: report of a case detected prenatally.
Prenatal diagnosis 2008;28(10):978-80.
2008: Torniero Claudia; Dalla Bernardina Bernardo; Novara Francesca; Cerini Roberto; Bonaglia Clara; Pramparo Tiziano; Ciccone Roberto; Guerrini Renzo; Zuffardi Orsetta
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: Giorda Roberto; Bonaglia M Clara; Milani Greta; Baroncini Anna; Spada Francesca; Beri Silvana; Menozzi Giorgia; Rusconi Marianna; Zuffardi Orsetta
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: Capozzi Oronzo; Purgato Stefania; Verdun di Cantogno Ludovica; Grosso Enrico; Ciccone Roberto; Zuffardi Orsetta; Della Valle Giuliano; Rocchi Mariano
Evolutionary and clinical neocentromeres: two faces of the same coin?
Chromosoma 2008;117(4):339-44.
2008: Marshall Christian R; Young Edwin J; Pani Ariel M; Freckmann Mary-Louise; Lacassie Yves; Howald Cédric; Fitzgerald Kristi K; Peippo Maarit; Morris Colleen A; Shane Kate; Priolo Manuela; Morimoto Masafumi; Kondo Ikuko; Manguoglu Esra; Berker-Karauzum Sibel; Edery Patrick; Hobart Holly H; Mervis Carolyn B; Zuffardi Orsetta; Reymond Alexandre; Kaplan Paige; Tassabehji May; Gregg Ronald G; Scherer Stephen W; Osborne Lucy R
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: Pramparo Tiziano; de Gregori Manuela; Gimelli Stefania; Ciccone Roberto; Frondizi Domenico; Liehr Thomas; Pellacani Simona; Masi Gabriele; Brovedani Paola; Zuffardi Orsetta; Guerrini Renzo
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: Guanciali-Franchi Paolo; Calabrese Giuseppe; Morizio Elisena; Gatta Valentina; Palka Chiara; Stuppia Liborio; Zuffardi Orsetta
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: Bonaglia Maria Clara; Giorda Roberto; Beri Silvana; Peters Gregory B; Kirk Edwin P; Hung Dorothy; Ciccone Roberto; Gottardi Giulietta; Zuffardi Orsetta
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: Rossi E; Riegel M; Messa J; Gimelli S; Maraschio P; Ciccone R; Stroppi M; Riva P; Perrotta C S; Mattina T; Memo L; Baumer A; Kucinskas V; Castellan C; Schinzel A; Zuffardi O
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: Rizzolio Flavio; Bione Silvia; Sala Cinzia; Tribioli Carla; Ciccone Roberto; Zuffardi Orsetta; di Iorgi Natascia; Maghnie Mohamad; Toniolo Daniela
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: Wieland I; Weidner C; Ciccone R; Lapi E; McDonald-McGinn D; Kress W; Jakubiczka S; Collmann H; Zuffardi O; Zackai E; Wieacker P
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.
Clinical genetics 2007;72(6):506-16.
2007: Della Monica Matteo; Lonardo Fortunato; Faravelli Francesca; Pierluigi Mauro; Luquetti Daniela Varela; De Gregori Manuela; Zuffardi Orsetta; Scarano Gioacchino
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: Torniero Claudia; Zuffardi Orsetta; Darra Francesca; Dalla Bernardina Bernardo
Scotosensitive and photosensitive myoclonic seizures in an infant with trisomy 13.
Epilepsia 2007;48(11):2177-80.
2007: Vermeesch Joris Robert; Fiegler Heike; de Leeuw Nicole; Szuhai Karoly; Schoumans Jacqueline; Ciccone Roberto; Speleman Frank; Rauch Anita; Clayton-Smith Jill; Van Ravenswaaij Conny; Sanlaville Damien; Patsalis Philippos C; Firth Helen; Devriendt Koen; Zuffardi Orsetta
Guidelines for molecular karyotyping in constitutional genetic diagnosis.
European journal of human genetics : EJHG 2007;15(11):1105-14.
2007: Concolino Daniela; Rossi Elena; Strisciuglio Pietro; Iembo Maria Antonietta; Giorda Roberto; Ciccone Roberto; Tenconi Romano; Zuffardi Orsetta
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: Bernardo Maria Ester; Zaffaroni Nadia; Novara Francesca; Cometa Angela Maria; Avanzini Maria Antonietta; Moretta Antonia; Montagna Daniela; Maccario Rita; Villa Raffaella; Daidone Maria Grazia; Zuffardi Orsetta; Locatelli Franco
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: Lonardo Fortunato; Parenti Giancarlo; Luquetti Daniela Varela; Annunziata Ida; Della Monica Matteo; Perone Lucia; De Gregori Manuela; Zuffardi Orsetta; Brunetti-Pierri Nicola; Andria Generoso; Scarano Gioacchino
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: Gimelli G; Giorda R; Beri S; Gimelli S; Zuffardi O
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: Benetti Elisa; Artifoni Lina; Salviati Leonardo; Pinello Luisa; Perrotta Silverio; Zuffardi Orsetta; Zacchello Graziella; Murer Luisa
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: Bocciardi Renata; Giorda Roberto; Buttgereit Jens; Gimelli Stefania; Divizia Maria Teresa; Beri Silvana; Garofalo Silvio; Tavella Sara; Lerone Margherita; Zuffardi Orsetta; Bader Michael; Ravazzolo Roberto; Gimelli Giorgio
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: Rizzolio Flavio; Sala Cinzia; Alboresi Simone; Bione Silvia; Gilli Serena; Goegan Mara; Pramparo Tiziano; Zuffardi Orsetta; Toniolo Daniela
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: Giorda Roberto; Ciccone Roberto; Gimelli Giorgio; Pramparo Tiziano; Beri Silvana; Bonaglia Maria Clara; Giglio Sabrina; Genuardi Maurizio; Argente Jesùs; Rocchi Mariano; Zuffardi Orsetta
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: Bernardo M E; Avanzini M A; Perotti C; Cometa A M; Moretta A; Lenta E; Del Fante C; Novara F; de Silvestri A; Amendola G; Zuffardi O; Maccario R; Locatelli F
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: Sharp Andrew J; Selzer Rebecca R; Veltman Joris A; Gimelli Stefania; Gimelli Giorgio; Striano Pasquale; Coppola Antonietta; Regan Regina; Price Sue M; Knoers Nine V; Eis Peggy S; Brunner Han G; Hennekam Raoul C; Knight Samantha J L; de Vries Bert B A; Zuffardi Orsetta; Eichler Evan E
Characterization of a recurrent 15q24 microdeletion syndrome.
Human molecular genetics 2007;16(5):567-72.
2007: Panza Emanuele; Gimelli Giorgio; Passalacqua Mario; Cohen Amnon; Gimelli Stefania; Giglio Sabrina; Ghezzi Cristina; Sparatore Bianca; Heye Babett; Zuffardi Orsetta; Rugarli Elena; Meitinger Thomas; Romeo Giovanni; Ravazzolo Roberto; Seri Marco
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: Priolo Manuela; Ciccone Roberto; Bova Irene; Campolo Giovanna; Laganà Carmelo; Zuffardi Orsetta
Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH.
European journal of medical genetics 2007;50(2):139-43.
2007: Ballarati Lucia; Rossi Elena; Bonati Maria Teresa; Gimelli Stefania; Maraschio Paola; Finelli Palma; Giglio Sabrina; Lapi Elisabetta; Bedeschi Maria Francesca; Guerneri Silvana; Arrigo Giulia; Patricelli Maria Grazia; Mattina Teresa; Guzzardi Oriana; Pecile Vanna; Police Adalgisa; Scarano Gioacchino; Larizza Lidia; Zuffardi Orsetta; Giardino Daniela
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: Zahed Laila; Pramparo Tiziano; Farra Chantal; Mikati Mohammad; Zuffardi Orsetta
A patient with duplication (7)(p22.1pter) characterized by array-CGH.
American journal of medical genetics. Part A 2007;143(2):168-71.
2007: Addis Maria; Meloni Cristiana; Congiu Rita; Santaniello Simona; Emma Francesco; Zuffardi Orsetta; Ciccone Roberto; Cao Antonio; Melis Maria Antonietta; Cau Milena
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: Pescucci C; Caselli R; Grosso S; Mencarelli M A; Mari F; Farnetani M A; Piccini B; Artuso R; Bruttini M; Priolo M; Zuffardi O; Gimelli S; Balestri P; Renieri A
2q24-q31 deletion: report of a case and review of the literature.
European journal of medical genetics 2007;50(1):21-32.
2007: Torniero Claudia; dalla Bernardina Bernardo; Novara Francesca; Vetro Annalisa; Ricca Ivana; Darra Francesca; Pramparo Tiziano; Guerrini Renzo; Zuffardi Orsetta
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: Gimelli Giorgio; Gimelli Stefania; Dimasi Nazzareno; Bocciardi Renata; Di Battista Eliana; Pramparo Tiziano; Zuffardi Orsetta
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: Bonaglia Maria Clara; Marelli Susan; Gottardi Giulietta; Zucca Claudio; Pramparo Tiziano; Giorda Roberto; Grasso Rita; Borgatti Renato; Zuffardi Orsetta
Subtelomeric trisomy 21q: a new benign chromosomal variant.
European journal of medical genetics 2007;50(1):54-9.
2007: Caselli R; Speciale C; Pescucci C; Uliana V; Sampieri K; Bruttini M; Longo I; De Francesco S; Pramparo T; Zuffardi O; Frezzotti R; Acquaviva A; Hadjistilianou T; Renieri A; Mari F
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH.
Journal of human genetics 2007;52(6):535-42.
2006: Bonaglia M C; Giorda R; Mani E; Aceti G; Anderlid B-M; Baroncini A; Pramparo T; Zuffardi O
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: Salviati Leonardo; Patricelli Mariagrazia; Guariso Graziella; Sturniolo Giacomo Carlo; Alaggio Rita; Bernardi Franca; Zuffardi Orsetta; Tenconi Romano
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: Moro F; Pisano T; Bernardina B Dalla; Polli R; Murgia A; Zoccante L; Darra F; Battaglia A; Pramparo T; Zuffardi O; Guerrini R
Periventricular heterotopia in fragile X syndrome.
Neurology 2006;67(4):713-5.
2006: Rizzolio Flavio; Bione Silvia; Sala Cinzia; Goegan Mara; Gentile Mattia; Gregato Giuliana; Rossi Elena; Pramparo Tiziano; Zuffardi Orsetta; Toniolo Daniela
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: Ciccone R; Mattina T; Giorda R; Bonaglia M C; Rocchi M; Pramparo T; Zuffardi O
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: Gimelli Giorgio; Giorda Roberto; Beri Silvana; Gimelli Stefania; Zuffardi Orsetta
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.
2006: Cau Milena; Addis Maria; Congiu Rita; Meloni Cristiana; Cao Antonio; Santaniello Simona; Loi Mario; Emma Francesco; Zuffardi Orsetta; Ciccone Roberto; Sole Gabriella; Melis Maria Antonietta
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.
2005: De Gregori Manuela; Pramparo Tiziano; Memo Luigi; Gimelli Giorgio; Messa Jole; Rocchi Mariano; Patricelli Maria Grazia; Ciccone Roberto; Giorda Roberto; Zuffardi Orsetta
Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangement?
Human genetics 2005;118(2):207-13.
2005: Ciccone Roberto; Giorda Roberto; Gregato Giuliana; Guerrini Renzo; Giglio Sabrina; Carrozzo Romeo; Bonaglia Maria Clara; Priolo Emanuela; Laganà Carmelo; Tenconi Romano; Rocchi Mariano; Pramparo Tiziano; Zuffardi Orsetta; Rossi Elena
Reciprocal translocations: a trap for cytogenetists?
Human genetics 2005;117(6):571-82.
2005: Pramparo Tiziano; Grosso Salvatore; Messa Jole; Zatterale Adriana; Bonaglia Maria Clara; Chessa Luciana; Balestri Paolo; Rocchi Mariano; Zuffardi Orsetta; Giorda Roberto
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: Morleo Manuela; Pramparo Tiziano; Perone Lucia; Gregato Giuliana; Le Caignec Cedric; Mueller Robert F; Ogata Tsutomu; Raas-Rothschild Annick; de Blois Marie Christine; Wilson Louise C; Zaidman Gerald; Zuffardi Orsetta; Ballabio Andrea; Franco Brunella
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: Pramparo Tiziano; Mattina Teresa; Gimelli Stefania; Liehr Thomas; Zuffardi Orsetta
Narrowing the deleted region associated with the 15q21 syndrome.
European journal of medical genetics 2005;48(3):346-52.
2005: Bonaglia Maria Clara; Giorda Roberto; Tenconi Romano; Pessina Marco; Pramparo Tiziano; Borgatti Renato; Zuffardi Orsetta
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: Rossi Elena; de Gregori Manuela; Grazia Patricelli Maria; Pramparo Tiziano; Argentiero Luisa; Giglio Sabrina; Sosta Katiuscia; Foresti Giovanni; Zuffardi Orsetta
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: Bione S; Rizzolio F; Sala C; Ricotti R; Goegan M; Manzini M C; Battaglia R; Marozzi A; Vegetti W; Dalprà L; Crosignani P G; Ginelli E; Nappi R; Bernabini S; Bruni V; Torricelli F; Zuffardi O; Toniolo D
Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.
Human reproduction (Oxford, England) 2004;19(12):2759-66.
2004: Rossetti Francesca; Rizzolio Flavio; Pramparo Tiziano; Sala Cinzia; Bione Silvia; Bernardi Franca; Goegan Mara; Zuffardi Orsetta; Toniolo Daniela
A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28.
European journal of human genetics : EJHG 2004;12(10):829-34.
2004: Pramparo Tiziano; Giglio Sabrina; Gregato Giuliana; de Gregori Manuela; Patricelli Maria Grazia; Ciccone Roberto; Scappaticci Susi; Mannino Gaetano; Lombardi Claudio; Pirola Barbara; Giorda Roberto; Rocchi Mariano; Zuffardi Orsetta
Inverted duplications: how many of them are mosaic?
European journal of human genetics : EJHG 2004;12(9):713-7.
2004: Giorda R; Cerritello A; Bonaglia M C; Bova S; Lanzi G; Repetti E; Giglio S; Baschirotto C; Pramparo T; Avolio L; Bragheri R; Maraschio P; Zuffardi O
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: Taruscio Domenica; Falbo Vincenzo; Floridia Giovanna; Salvatore Marco; Pescucci Chiara; Cantafora Alfredo; Marongiu Cesarina; Baroncini Anna; Calzolari Elisa; Cao Antonio; Castaldo Giuseppe; Bricarelli Franca Dagna; Guanti Ginevra; Nitsch Lucio; Pignatti Pier Franco; Rosatelli Cristina; Salvatore Francesco; Zuffardi Orsetta
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: Pramparo Tiziano; Gregato Giuliana; De Gregori Manuela; Friso Alessandra; Clementi Maurizio; Ardenghi Patrizia; Rocchi Mariano; Zuffardi Orsetta; Tenconi Romano
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; Mudge Jonathan M; Palumbo Valeria; Burn Sally; Blennow Elisabeth; Pierluigi Mauro; Giorda Roberto; Zuffardi Orsetta; Archidiacono Nicoletta; Jackson Michael S; Rocchi Mariano
Neocentromeres in 15q24-26 map to duplicons which flanked an ancestral centromere in 15q25.
Genome research 2003;13(9):2059-68.
2003: Bonaglia M C; Giorda R; Cavallini A; Pramparo T; Rocchi M; Borgatti R; Zuffardi O
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: Gimelli Giorgio; Pujana Miguel Angel; Patricelli Maria Grazia; Russo Silvia; Giardino Daniela; Larizza Lidia; Cheung Joseph; Armengol Lluís; Schinzel Albert; Estivill Xavier; Zuffardi Orsetta
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: Battisti C; Bonaglia M C; Giglio S; Anichini C; Pucci L; Dotti M T; Zuffardi O; Federico A
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: Zollino Marcella; Colosimo Cesare; Zuffardi Orsetta; Rossi Elena; Tosolini Alessandra; Walsh Christopher A; Neri Giovanni
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: Bonaglia Maria Clara; Giorda Roberto; Carrozzo Romeo; Roncoroni Maria Elena; Grasso Rita; Borgatti Renato; Zuffardi Orsetta
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: Gimelli Giorgio; Giglio Sabrina; Zuffardi Orsetta; Alhonen Leena; Suppola Suvikki; Cusano Roberto; Lo Nigro Cristiana; Gatti Rosanna; Ravazzolo Roberto; Seri Marco
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: Giglio Sabrina; Calvari Vladimiro; Gregato Giuliana; Gimelli Giorgio; Camanini Silvia; Giorda Roberto; Ragusa Angela; Guerneri Silvana; Selicorni Angelo; Stumm Marcus; Tonnies Holger; Ventura Mario; Zollino Marcella; Neri Giovanni; Barber John; Wieczorek Dagmar; Rocchi Mariano; Zuffardi Orsetta
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: Bonaglia M C; Giorda R; Borgatti R; Felisari G; Gagliardi C; Selicorni A; Zuffardi O
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: Rossi E; Piccini F; Zollino M; Neri G; Caselli D; Tenconi R; Castellan C; Carrozzo R; Danesino C; Zuffardi O; Ragusa A; Castiglia L; Galesi O; Greco D; Romano C; Pierluigi M; Perfumo C; Di Rocco M; Faravelli F; Dagna Bricarelli F; Bonaglia M; Bedeschi M; Borgatti R
Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations.
Journal of medical genetics 2001;38(6):417-20.
2001: Giglio S; Broman K W; Matsumoto N; Calvari V; Gimelli G; Neumann T; Ohashi H; Voullaire L; Larizza D; Giorda R; Weber J L; Ledbetter D H; Zuffardi O
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements.
American journal of human genetics 2001;68(4):874-83.
2000: Floridia G; Zatterale A; Zuffardi O; Tyler-Smith C
Mapping of a human centromere onto the DNA by topoisomerase II cleavage.
EMBO reports 2000;1(6):489-93.
2000: Bonaglia M C; Giorda R; Poggi G; Raggi M E; Rossi E; Baroncini A; Giglio S; Borgatti R; Zuffardi O
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: Giglio S; Graw S L; Gimelli G; Pirola B; Varone P; Voullaire L; Lerzo F; Rossi E; Dellavecchia C; Bonaglia M C; Digilio M C; Giannotti A; Marino B; Carrozzo R; Korenberg J R; Danesino C; Sujansky E; Dallapiccola B; Zuffardi O
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: Calvari V; Bertini V; De Grandi A; Peverali G; Zuffardi O; Ferguson-Smith M; Knudtzon J; Camerino G; Borsani G; Guioli S
A new submicroscopic deletion that refines the 9p region for sex reversal.
Genomics 2000;65(3):203-12.
2000: Manzoni M F; Pramparo T; Stroppolo A; Chiaino F; Bosi E; Zuffardi O; Carrozzo R
A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY.
Clinical genetics 2000;57(5):406-8.
2000: Giglio S; Pirola B; Arrigo G; Dagrada P; Bardoni B; Bernardi F; Russo G; Argentiero L; Forabosco A; Carrozzo R; Zuffardi O
Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements.
European journal of human genetics : EJHG 2000;8(1):63-70.
2000: Gimelli G; Zuffardi O; Giglio S; Zeng C; He D
CENP-G in neocentromeres and inactive centromeres.
Chromosoma 2000;109(5):328-33.
2000: Floridia G; Gimelli G; Zuffardi O; Earnshaw W C; Warburton P E; Tyler-Smith C
A neocentromere in the DAZ region of the human Y chromosome.
Chromosoma 2000;109(5):318-27.
1999: Reymond A; Volorio S; Merla G; Al-Maghtheh M; Zuffardi O; Bulfone A; Ballabio A; Zollo M
Evidence for interaction between human PRUNE and nm23-H1 NDPKinase.
Oncogene 1999;18(51):7244-52.
1999: Tyler-Smith C; Gimelli G; Giglio S; Floridia G; Pandya A; Terzoli G; Warburton P E; Earnshaw W C; Zuffardi O
Transmission of a fully functional human neocentromere through three generations.
American journal of human genetics 1999;64(5):1440-4.
1999: Volta M; Bulfone A; Gattuso C; Rossi E; Mariani M; Consalez G G; Zuffardi O; Ballabio A; Banfi S; Franco B
Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene.
Genomics 1999;55(1):68-77.
1999: Fogli A; Giglio S; Arrigo G; Lo Nigro C; Zollo M; Viggiano L; Rocchi M; Archidiacono N; Zuffardi O; Carrozzo R
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.
1998: Pirola B; Bortotto L; Giglio S; Piovan E; Janes A; Guerrini R; Zuffardi O
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: Canevini M P; Sgro V; Zuffardi O; Canger R; Carrozzo R; Rossi E; Ledbetter D; Minicucci F; Vignoli A; Piazzini A; Guidolin L; Saltarelli A; dalla Bernardina B
Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern.
Epilepsia 1998;39(9):942-51.
1998: Sanvito F; Arrigo G; Zuffardi O; Agnelli M; Marchisio P C; Biffo S
Localization of p27 beta 4 binding protein gene (ITGB4BP) to human chromosome region 20q11.2.
Genomics 1998;52(1):111-2.
1998: de Conciliis L; Marchitiello A; Wapenaar M C; Borsani G; Giglio S; Mariani M; Consalez G G; Zuffardi O; Franco B; Ballabio A; Banfi S
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: Galli-Stauber C; Raho G; Rossi D; Corona D F; Pirola B; Bonaglia M C; Zuffardi O; Sorrentino V
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: Sperandeo M P; Borsani G; Incerti B; Zollo M; Rossi E; Zuffardi O; Castaldo P; Taglialatela M; Andria G; Sebastio G
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: Bione S; Sala C; Manzini C; Arrigo G; Zuffardi O; Banfi S; Borsani G; Jonveaux P; Philippe C; Zuccotti M; Ballabio A; Toniolo D
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: Dal Zotto L; Quaderi N A; Elliott R; Lingerfelter P A; Carrel L; Valsecchi V; Montini E; Yen C H; Chapman V; Kalcheva I; Arrigo G; Zuffardi O; Thomas S; Willard H F; Ballabio A; Disteche C M; Rugarli E I
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: Fumagalli P; Accarino M; Egeo A; Scartezzini P; Rappazzo G; Pizzuti A; Avvantaggiato V; Simeone A; Arrigo G; Zuffardi O; Ottolenghi S; Taramelli R
Human NRD convertase: a highly conserved metalloendopeptidase expressed at specific sites during development and in adult tissues.
Genomics 1998;47(2):238-45.
1997: Carrozzo R; Arrigo G; Rossi E; Bardoni B; Cammarata M; Gandullia P; Gatti R; Zuffardi O
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: Carrozzo R; Rossi E; Christian S L; Kittikamron K; Livieri C; Corrias A; Pucci L; Fois A; Simi P; Bosio L; Beccaria L; Zuffardi O; Ledbetter D H
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: Piantanida M; Dellavecchia C; Floridia G; Giglio S; Hoeller H; Dordi B; Danesino C; Schinzel A; Zuffardi O
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: Arrigo G; Gherzi R; Bonaglia M C; Leprini A; Zuffardi O; Zardi L
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: Mastroianni N; De Fusco M; Zollo M; Arrigo G; Zuffardi O; Bettinelli A; Ballabio A; Casari G
Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3).
Genomics 1996;35(3):486-93.
1996: Banfi S; Borsani G; Rossi E; Bernard L; Guffanti A; Rubboli F; Marchitiello A; Giglio S; Coluccia E; Zollo M; Zuffardi O; Ballabio A
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching.
Nature genetics 1996;13(2):167-74.
1996: Floridia G; Piantanida M; Minelli A; Dellavecchia C; Bonaglia C; Rossi E; Gimelli G; Croci G; Franchi F; Gilgenkrantz S; Grammatico P; Dalprá L; Wood S; Danesino C; Zuffardi O
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: Maraschio P; Tupler R; Rossi E; Barbierato L; Uccellatore F; Rocchi M; Zuffardi O; Fraccaro M
A novel mechanism for the origin of supernumerary marker chromosomes.
Human genetics 1996;97(3):382-6.
1995: Zanaria E; Bardoni B; Dabovic B; Calvari V; Fraccaro M; Zuffardi O; Camerino G
Xp duplications and sex reversal.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences 1995;350(1333):291-6.
1995: Kwok C; Weller P A; Guioli S; Foster J W; Mansour S; Zuffardi O; Punnett H H; Dominguez-Steglich M A; Brook J D; Young I D
Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.
American journal of human genetics 1995;57(5):1028-36.
1994: Rossi E; Faiella A; Zeviani M; Labeit S; Floridia G; Brunelli S; Cammarata M; Boncinelli E; Zuffardi O
Order of six loci at 2q24-q31 and orientation of the HOXD locus.
Genomics 1994;24(1):34-40.
1994: Gellera C; Verderio E; Floridia G; Finocchiaro G; Montermini L; Cavadini P; Zuffardi O; Taroni F
Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32.
Genomics 1994;24(1):195-7.
1994: Stevanovic M; Zuffardi O; Collignon J; Lovell-Badge R; Goodfellow P
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: Digilio M C; Giannotti A; Floridia G; Uccellatore F; Mingarelli R; Danesino C; Dallapiccola B; Zuffardi O
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: Pezzolo A; Gimelli G; Sposito M; Giussani U; Rossi E; Zuffardi O
Definitive assignment of the growth hormone-releasing factor gene to 20q11.2.
Human genetics 1994;93(2):213-4.
1993: Tyler-Smith C; Oakey R J; Larin Z; Fisher R B; Crocker M; Affara N A; Ferguson-Smith M A; Muenke M; Zuffardi O; Jobling M A
Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomes.
Nature genetics 1993;5(4):368-75.
1993: Rossi E; Floridia G; Casali M; Danesino C; Chiumello G; Bernardi F; Magnani I; Papi L; Mura M; Zuffardi O
Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences.
Journal of medical genetics 1993;30(11):926-31.
1993: Pezzolo A; Gimelli G; Cohen A; Lavaggetto A; Romano C; Fogu G; Zuffardi O
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: Briscioli V; Floridia G; Rossi E; Selicorni A; Lalatta F; Zuffardi O
Trisomy 10qter confirmed by in situ hybridisation.
Journal of medical genetics 1993;30(7):601-3.
1993: Bardoni B; Floridia G; Guioli S; Peverali G; Anichini C; Cisternino M; Casalone R; Danesino C; Fraccaro M; Zuffardi O
Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq.
Human genetics 1993;91(4):333-8.
1993: Ghiggeri G M; Caridi G; Altieri P; Pezzolo A; Gimelli G; Zuffardi O
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: Rossi E; Zarrilli R; Zuffardi O
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: Avarello R; Pedicini A; Caiulo A; Zuffardi O; Fraccaro M
Evidence for an ancestral alphoid domain on the long arm of human chromosome 2.
Human genetics 1992;89(2):247-9.
1992: Simi P; Ceccarelli M; Barachini A; Floridia G; Zuffardi O
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: Ballabio A; Zollo M; Carrozzo R; Caiulo A; Zuffardi O; Cascioli C F; Viggiano D; Strisciuglio P
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: Pedicini A; Camerino G; Avarello R; Guioli S; Zuffardi O
Probe St35-239 (DXYS64) reveals homology between the distal ends of Xq and Yq.
Genomics 1991;11(2):482-3.
1991: Bardoni B; Zuffardi O; Guioli S; Ballabio A; Simi P; Cavalli P; Grimoldi M G; Fraccaro M; Camerino G
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: Caiulo A; Nicolis S; Bianchi P; Zuffardi O; Bardoni B; Maraschio P; Ottolenghi S; Camerino G; Giglioni B
Mapping the gene encoding the human erythroid transcriptional factor NFE1-GF1 to Xp11.23.
Human genetics 1991;86(4):388-90.
1991: Maserati E; Pasquali F; Zuffardi O; Buttitta P; Cuoco C; Defant G; Gimelli G; Fraccaro M
Roberts syndrome: phenotypic variation, cytogenetic definition and heterozygote detection.
Annales de génétique 1991;34(3-4):239-46.
1990: Rivera H; Zuffardi O; Gargantini L
Nonreciprocal and jumping translocations of 15q1----qter in Prader-Willi syndrome.
American journal of medical genetics 1990;37(3):311-7.
1990: Maraschio P; Zuffardi O; Caiulo A; Dainotti E; Piantanida M; Rivera H; Tupler R
Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation.
Human genetics 1990;85(5):491-4.
1989: Rivera H; Zuffardi O; Maraschio P; Caiulo A; Anichini C; Scarinci R; Vivarelli R
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: Zuffardi O; Caiulo A
[An update on gonadal differentiation]
La Pediatria medica e chirurgica : Medical and surgical pediatrics 1989;11(5):481-4.
1989: Papi L; Montali E; Marconi G; Guazzelli R; Bigozzi U; Maraschio P; Zuffardi O
Evidence for a human mitotic mutant with pleiotropic effect.
Annals of human genetics 1989;53(Pt 3):243-8.
1989: Zuffardi O; Caiulo A; Maraschio P; Tupler R; Bianchi E; Amisano P; Beluffi G; Moratti R; Liguri G
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: Vivarelli R; Zuffardi O; Maraschio P; Anichini C; Scarinci R
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: Maraschio P; Zuffardi O; Dalla Fior T; Tiepolo L
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: Zuffardi O; Gargantini L; Lambiase S; Lo Curto F; Maraschio P; Ford C E
Presumptive mosaic origin of an XX/XY female with ambiguous genitalia.
Journal of medical genetics 1987;24(3):177-80.
1986: Maraschio P; Peretti D; Lambiase S; Lo Curto F; Caufin D; Gargantini L; Minoli L; Zuffardi O
A new chromosome instability disorder.
Clinical genetics 1986;30(5):353-65.
1986: Peretti D; Maraschio P; Lambiase S; Lo Curto F; Zuffardi O
Indirect immunofluorescence of inactive centromeres as indicator of centromeric function.
Human genetics 1986;73(1):12-6.
1985: Gimelli G; Cuoco C; Lituania M; Cordone M; Aricò M; Bianchi E; Maraschio P; Zuffardi O
Dup(3)(p2----pter) in two families, including one infant with cyclopia.
American journal of medical genetics 1985;20(2):341-8.
1984: Lambiase S; Maraschio P; Zuffardi O
The Cd technique identifies a specific structure related to centromeric function.
Human genetics 1984;67(2):214-5.
1984: Maraschio P; Danesino C; Lo Curto F; Zuffardi O; Dalla Fior T; Pedrotti D
A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage.
Annales de génétique 1984;27(2):96-101.
1983: Fraccaro M; Zuffardi O; Bühler E; Schinzel A; Simoni G; Witkowski R; Bonifaci E; Caufin D; Cignacco G; Delendi N
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: Zuffardi O; Maraschio P; Lo Curto F; Müller U; Giarola A; Perotti L
The role of Yp in sex determination: new evidence from X/Y translocations.
American journal of medical genetics 1982;12(2):175-84.
1982: Cuoco C; Gimelli G; Pasquali F; Poloni L; Zuffardi O; Alicata P; Battaglino G; Bernardi F; Cerone R; Cotellessa M; Ghidoni A; Motta S
Duplication of the short arm of chromosome 9. Analysis of five cases.
Human genetics 1982;61(1):3-7.
1982: Ropers H H; Zuffardi O; Bianchi E; Tiepolo L
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: Maraschio P; Zuffardi O; Bernardi F; Bozzola M; De Paoli C; Fonatsch C; Flatz S D; Ghersini L; Gimelli G; Loi M; Lorini R; Peretti D; Poloni L; Tonetti D; Vanni R; Zamboni G
Preferential maternal derivation in inv dup(15): analysis of eight new cases.
Human genetics 1981;57(4):345-50.
1981: Schinzel A; Schmid W; Fraccaro M; Tiepolo L; Zuffardi O; Opitz J M; Lindsten J; Zetterqvist P; Enell H; Baccichetti C; Tenconi R; Pagon R A
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: Garau A; Crisponi G; Peretti D; Vanni R; Zuffardi O
Trisomy 16q21 = to qter.
Human genetics 1980;53(2):165-7.
1980: Zuffardi O; Danesino C; Poloni L; Pavesi F; Bianchi C; Gargantini L
Ring chromosome and latent centromeres.
Cytogenetics and cell genetics 1980;28(3):151-7.
1980: Guanti G; Zuffardi O; Tiepolo L
rDNA levels in infertile male carriers of Robertsonian translocations.
Cytogenetics and cell genetics 1980;27(2-3):162-7.
1980: Maraschio P; Zuffardi O; Lo Curto F
Cd bands and centromeric function in dicentric chromosomes.
Human genetics 1980;54(2):265-7.
1980: Tiepolo L; Zuffardi O; Fraccaro M; di Natale D; Gargantini L; Müller C R; Ropers H H
Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223.
Human genetics 1980;54(2):205-6.

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