Literature DB >> 25124455

Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay.

Celine Pebrel-Richard1, Charles Rouzade, Stephan Kemeny, Eleonore Eymard-Pierre, Mathilde Gay-Bellile, Laetitia Gouas, Andreï Tchirkov, Carole Goumy, Philippe Vago.   

Abstract

Entities:  

Keywords:  7p22.1 microduplication; ACTB; craniofacial dysmorphism; intellectual disability

Mesh：

Year:  2014        PMID： 25124455     DOI： 10.1002/ajmg.a.36715

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


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  3 in total

1.  Inheritance of a Balanced t(12;20)(q24.33;p12.2) and Unbalanced der(13)t(7;13)(p21.3;q33.2) from a Maternally Derived Double Balanced Translocation Carrier.

Authors:  Jess F Peterson; Gabrielle C Geddes; Donald G Basel; Dana Schippman; John W Grignon; Peter vanTuinen; Ulrike P Kappes
Journal:  J Pediatr Genet       Date:  2017-08-14

2.  Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism.

Authors:  Veronica Goitia; Marcial Oquendo; Robert Stratton
Journal:  Case Rep Genet       Date:  2015-03-29

3.  Molecular Mechanisms of Syndromic Cryptorchidism: Data Synthesis of 50 Studies and Visualization of Gene-Disease Network.

Authors:  Kristian Urh; Živa Kolenc; Maj Hrovat; Luka Svet; Peter Dovč; Tanja Kunej
Journal:  Front Endocrinol (Lausanne)       Date:  2018-07-26       Impact factor: 5.555
  3 in total

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