Literature DB >> 17676599

Trisomy 1q42.3-qter and monosomy 21q22.3-qter associated with ear anomaly, facial dysmorphology, psychomotor retardation, and epilepsy: delineation of a new syndrome.

Karin Tuschl1, Barbara Fritz, Marion Herle, Christa Fonatsch, Olaf A Bodamer.   

Abstract

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Year:  2007        PMID： 17676599     DOI： 10.1002/ajmg.a.31792

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


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  3 in total

1.  Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.

Authors:  R Oegema; A de Klein; A J Verkerk; R Schot; B Dumee; H Douben; B Eussen; L Dubbel; P J Poddighe; I van der Laar; W B Dobyns; P J van der Spek; M H Lequin; I F M de Coo; M-C Y de Wit; M W Wessels; G M S Mancini
Journal:  Mol Syndromol       Date:  2010-09-14

2.  Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report.

Authors:  Beata Aleksiūnienė; Rugilė Matulevičiūtė; Aušra Matulevičienė; Birutė Burnytė; Natalija Krasovskaja; Laima Ambrozaitytė; Violeta Mikštienė; Vaidas Dirsė; Algirdas Utkus; Vaidutis Kučinskas
Journal:  Medicine (Baltimore)       Date:  2017-04       Impact factor: 1.889

3.  Impaired spatial learning strategies and novel object recognition in mice haploinsufficient for the dual specificity tyrosine-regulated kinase-1A (Dyrk1A).

Authors:  Glòria Arqué; Vassiliki Fotaki; David Fernández; María Martínez de Lagrán; Maria L Arbonés; Mara Dierssen
Journal:  PLoS One       Date:  2008-07-02       Impact factor: 3.240
  3 in total

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