Molecular Cytogenetics | Home page

Molecular Cytogenetics | Home page

Molecular Cytogenetics

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1. Content Type:Letter To Editor

     |  19 October 2018

   Rare gene fusion rearrangement SPTNB1-PDGFRB in an atypical myeloproliferative neoplasm

   Authors:Vanessa Fiorini Furtado, Neeraj Y. Saini, William Walsh, Venu Bathini and Patricia M. Miron
2. Content Type:Case Report

     |  19 October 2018

   18q22.1-qter deletion and 4p16.3 microduplication in a boy with speech delay and mental retardation: case report and review of the literature

   Authors:Chunjing Wang, Huanhuan Ren, Huaifu Dong, Meng Liang, Qi Wu and Yaping Liao
3. Content Type:Research

     |  24 September 2018

   Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders

   Authors:Ahmet Cevdet Ceylan, Senol Citli, Haktan Bagis Erdem, Ibrahim Sahin, Elif Acar Arslan and Murat Erdogan
4. Content Type:Case Report

     |  19 September 2018

   13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature

   Authors:Ilaria Bestetti, Alessandra Sironi, Ilaria Catusi, Milena Mariani, Daniela Giardino, Siranoush Manoukian, Donatella Milani, Lidia Larizza, Chiara Castronovo and Palma Finelli
5. Content Type:Case Report

     |  6 September 2018

   Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases

   Authors:Donatella Conconi, Nicoletta Villa, Serena Redaelli, Elena Sala, Francesca Crosti, Silva Maitz, Miriam Rigoldi, Rossella Parini, Leda Dalprà, Marialuisa Lavitrano and Gaia Roversi

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