Giovanni Neri

Overview

Best Publications

• Molecular alterations of the AKT2 oncogene in ovarian and breast carcinomas.

  A. Bellacosa;D. De Feo;A. K. Godwin;D. W. Bell

  1154
  Citations

• Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

  Giuseppe Pilia;Rhiannon M. Hughes-Benzie;Alex MacKenzie;Primo Baybayan

  957
  Citations

• Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

  Tetsuya Niihori;Yoko Aoki;Yoko Narumi;Giovanni Neri

  671
  Citations

• Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056

  Sébastien Jacquemont;Aurore Curie;Vincent des Portes;Maria Giulia Torrioli

  603
  Citations

• De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

  Erin L Heinzen;Kathryn J Swoboda;Yuki Hitomi;Fiorella Gurrieri

  457
  Citations

• p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation

  Hans van Bokhoven;Ben C.J. Hamel;Mike Bamshad;Eugenio Sangiorgi

  429
  Citations

• Immunoscintigraphic Detection of the ED-B Domain of Fibronectin, a Marker of Angiogenesis, in Patients with Cancer

  Monica Santimaria;Giovanni Moscatelli;Giuseppe L. Viale;Leonardo Giovannoni

  402
  Citations

• A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability

  Francesca Zalfa;Boris Eleuteri;Kirsten S Dickson;Valentina Mercaldo

  398
  Citations

• Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics

  Claudia Bagni;Flora Tassone;Giovanni Neri;Randi J Hagerman

  391
  Citations

• MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1.

  Alfonso Bellacosa;Lucia Cicchillitti;Filippo Schepis;Antonio Riccio

  328
  Citations

• Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy.

  Catia Andreassi;Carla Angelozzi;Francesco D Tiziano;Tiziana Vitali

  326
  Citations

• The cardiofaciocutaneous syndrome

  Amy Roberts;Judith Allanson;Suzanne K Jadico;Maria Ines Kavamura

  323
  Citations

• Synergistic Effect of Histone Hyperacetylation and DNA Demethylation in the Reactivation of the FMR1 Gene

  Pietro Chiurazzi;Pietro Chiurazzi;M. Grazia Pomponi;Roberta Pietrobono;Cathy E. Bakker

  300
  Citations

• Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

  Jennifer J. Johnston;Isabelle Olivos-Glander;Christina Killoran;Emma Elson

  299
  Citations

• Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

  Marcella Zollino;Rosetta Lecce;Rita Fischetto;Marina Murdolo

  297
  Citations

• New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement―The CFC syndrome

  James F. Reynolds;Giovanni Neri;Jurgen P. Herrmann;Bruce Blumberg

  296
  Citations

• The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability.

  Antonio Riccio;Lauri A. Aaltonen;Andrew K. Godwin;Anu Loukola

  279
  Citations

• Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility

  Dewi Astuti;Mark R Morris;Mark R Morris;Wendy N Cooper;Raymond H J Staals

  263
  Citations

• Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.

  Luigi Boccuto;Maria Lauri;Sara M Sarasua;Cindy D Skinner

  259
  Citations

• In Vitro Reactivation of the FMR1 Gene Involved in Fragile X Syndrome

  Pietro Chiurazzi;M. Grazia Pomponi;Rob Willemsen;Ben A. Oostra

  254
  Citations