Leopoldo Zelante

Overview

Best Publications

• The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.

  Crisponi L;Deiana M;Loi A;Chiappe F

  1105
  Citations

• Connexin26 Mutations Associated with the Most Common Form of Non-Syndromic Neurosensory Autosomal Recessive Deafness (DFNB1) in Mediterraneans

  Leopoldo Zelante;Paolo Gasparini;Xavier Estivill;Salvatore Melchionda

  877
  Citations

• Connexin-26 mutations in sporadic and inherited sensorineural deafness

  Xavier Estivill;Paolo Fortina;Saul Surrey;Raquel Rabionet

  860
  Citations

• Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency

  Valeria Tiranti;Konstanze Hoertnagel;Rosalba Carrozzo;Claudia Galimberti

  632
  Citations

• High carrier frequency of the 35delG deafness mutation in European populations

  Paolo Gasparini;Raquel Rabionet;Guido Barbujani;Salvatore Melchionda

  567
  Citations

• Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

  Anna Grifa;Carsten A. Wagner;Lucrezia D'Ambrosio;Salvatore Melchionda

  493
  Citations

• Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder

  A. M. Persico;L. D'agruma;N. Maiorano;A. Totaro

  441
  Citations

• Cystinuria caused by mutations in rBAT , a gene involved in the transport of cystine

  María Julia Calonge;Paolo Gasparini;Josep Chillarón;Miguel Chillón

  430
  Citations

• Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

  Seri M;Cusano R;Gangarossa S;Caridi G

  396
  Citations

• Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.

  Lídia Feliubadaló;Mariona Font;Jesús Purroy;Ferran Rousaud

  377
  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

• Comparison between SLC3A1 and SLC7A9 Cystinuria Patients and Carriers: A Need for a New Classification

  Luca Dello Strologo;Elon Pras;Claudia Pontesilli;Ercole Beccia

  334
  Citations

• Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.

  Raquel Rabionet;Leopoldo Zelante;Núria López-Bigas;Leonardo D'Agruma

  298
  Citations

• Juvenile Hemochromatosis Locus Maps to Chromosome 1q

  A. Roetto;A. Totaro;M. Cazzola;M. Cicilano

  286
  Citations

• MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss

  Salvatore Melchionda;Nadav Ahituv;Luigi Bisceglia;Tama Sobe

  280
  Citations

• Positional cloning of the Fanconi anaemia group A gene

  Sinoula Apostolou;Scott A. Whitmore;Joanna Crawford;Gregory Lennon

  269
  Citations

• Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

  Tarja Joensuu;Riikka Hämäläinen;Bo Yuan;Cheryl Johnson

  259
  Citations

• Clinical and molecular characterization of patients with distal 11q deletions.

  Laura A. Penny;Marie Dell'Aquila;Marilyn C. Jones;JoAnn Bergoffen

  231
  Citations

• Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals.

  Lorenzo Lo Muzio;Pier Francesco Nocini;Anna Savoia;Ugo Consolo

  216
  Citations

• Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4)

  Francesca Donaudy;Rik Snoeckx;Markus Pfister;Hans Peter Zenner

  205
  Citations