Literature DB >> 17702013

Pure segmental trisomy 1q42-qter in a boy with a severe phenotype.

Antonio Percesepe, Licia Lugli, Mauro Pierluigi, Simona Cavani, Michela Malacarne, Maria Federica Roversi, Fabrizio Ferrari, Antonino Forabosco.   

Abstract

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Year:  2007        PMID： 17702013     DOI： 10.1002/ajmg.a.31890

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  4 in total

1.  Partial 1q Duplications and Associated Phenotype.

Authors:  Marcos L M Morris; José E Baroneza; Patricia Teixeira; Cristina T N Medina; Mara S Cordoba; Beatriz R Versiani; Liege L Roese; Erika L Freitas; Ana C S Fonseca; Maria C G Dos Santos; Aline Pic-Taylor; Carla Rosenberg; Silviene F Oliveira; Iris Ferrari; Juliana F Mazzeu
Journal:  Mol Syndromol       Date:  2016-02-04

2.  Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes.

Authors:  Alicia Cervantes; Constanza García-Delgado; Fernando Fernández-Ramírez; Carolina Galaz-Montoya; Ariadna Berenice Morales-Jiménez; Karem Nieto-Martínez; Laura Gómez-Laguna; Judith Villa-Morales; Mónica Quintana-Palma; Jaime Berúmen; Susana Kofman; Verónica F Morán-Barroso
Journal:  BMC Med Genomics       Date:  2014-09-15       Impact factor: 3.063

3.  Rehabilitation Treatment of a Child Diagnosed With Duplication of 1q42-q44: A Case Report.

Authors:  Seong Woo Kim; Jiyong Kim; Ha Ra Jeon; Min Jung Park; Yoon Kim
Journal:  Ann Rehabil Med       Date:  2016-10-31

4.  Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis.

Authors:  Elisa Caramaschi; Ilaria Stanghellini; Pamela Magini; Maria Grazia Giuffrida; Silvia Scullin; Tiziana Giuva; Patrizia Bergonzini; Azzurra Guerra; Paolo Paolucci; Antonio Percesepe
Journal:  Ital J Pediatr       Date:  2014-04-28       Impact factor: 2.638
  4 in total

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