Literature DB >> 21383552

Mild phenotype in a patient with a de-novo 2.9-Mb interstitial deletion at 13q12.11.

George A Tanteles1, Abhijit Dixit, Nigel Smith, Kate Martin, Mohnish Suri.   

Abstract

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Year:  2011        PMID： 21383552     DOI： 10.1097/MCD.0b013e3283448498

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  2 in total

1.  A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics.

Authors:  Magdalini Lagou; Ioannis Papoulidis; Sandro Orru; Vasileios Papadopoulos; George Daskalakis; Maria Kontodiou; Eleftherios Anastasakis; Michael B Petersen; George Kitsos; Loretta Thomaidis; Emmanouil Manolakos
Journal:  Mol Cytogenet       Date:  2014-12-03       Impact factor: 2.009

2.  Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.

Authors:  Magdalena Bartnik; Beata Nowakowska; Katarzyna Derwińska; Barbara Wiśniowiecka-Kowalnik; Marta Kędzior; Joanna Bernaciak; Kamila Ziemkiewicz; Tomasz Gambin; Maciej Sykulski; Natalia Bezniakow; Lech Korniszewski; Anna Kutkowska-Kaźmierczak; Jakub Klapecki; Krzysztof Szczałuba; Chad A Shaw; Tadeusz Mazurczak; Anna Gambin; Ewa Obersztyn; Ewa Bocian; Paweł Stankiewicz
Journal:  J Appl Genet       Date:  2013-12-03       Impact factor: 3.240
  2 in total

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