Orsetta Zuffardi

Overview

Best Publications

• Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm.

  L. Tiepolo;L. Tiepolo;Orsetta Zuffardi

  1563
  Citations

• Human bone marrow derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not exhibit telomere maintenance mechanisms.

  Maria Ester Bernardo;Nadia Zaffaroni;Francesca Novara;Angela Maria Cometa

  947
  Citations

• Formation of new chromatin domains determines pathogenicity of genomic duplications

  Martin Franke;Martin Franke;Daniel M. Ibrahim;Guillaume Andrey;Wibke Schwarzer

  665
  Citations

• A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

  Andrew J Sharp;Heather C Mefford;Kelly Li;Carl Baker

  651
  Citations

• Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?

  M. Gautel;O. Zuffardi;A. Freiburg;S. Labeit

  476
  Citations

• Constitutive Activation of PKA Catalytic Subunit in Adrenal Cushing's Syndrome

  Felix Beuschlein;Martin Fassnacht;Guillaume Assié;Davide Calebiro

  418
  Citations

• Olfactory Receptor–Gene Clusters, Genomic-Inversion Polymorphisms, and Common Chromosome Rearrangements

  Sabrina Giglio;Karl W. Broman;Naomichi Matsumoto;Vladimiro Calvari

  414
  Citations

• Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome

  Maria Clara Bonaglia;Roberto Giorda;Renato Borgatti;Giorgio Felisari

  403
  Citations

• 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

  Me Bernardo;Ma Avanzini;C Perotti;Am Cometa

  355
  Citations

• 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

  Silvia Bione;Cinzia Sala;Chiara Manzini;Giulia Arrigo

  350
  Citations

• Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

  M De Gregori;R Ciccone;P Magini;T Pramparo

  337
  Citations

• Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

  Immacolata Andolfo;Seth L. Alper;Lucia De Franceschi;Carla Auriemma

  330
  Citations

• 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.

  A. Schinzel;W. Schmid;M. Fraccaro;L. Tiepolo

  275
  Citations

• Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

  Jeroen K.J. Van Houdt;Beata Anna Nowakowska;Sérgio B. Sousa;Sérgio B. Sousa;Barbera D.C. Van Schaik

  255
  Citations

• Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

  D. A. Koolen;A. J. Sharp;A. J. Sharp;J. A. Hurst;H. V. Firth

  250
  Citations

• Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.

  C Kwok;P A Weller;S Guioli;J W Foster

  245
  Citations

• Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

  Maria Clara Bonaglia;Roberto Giorda;Elisa Mani;Giuseppe Aceti

  240
  Citations

• The 11q;22q translocation: A European collaborative analysis of 43 cases

  M. Fraccaro;J. Lindsten;C. E. Ford;L. Iselius

  238
  Citations

• Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.

  Daniele Ghezzi;Irina Sevrioukova;Federica Invernizzi;Costanza Lamperti

  234
  Citations

• A dosage sensitive locus at chromosome XP21 is involved in male to female sex reversal

  B. Bardoni;E. Zanaria;S. Guioli;G. Floridia

  100
  Citations