Literature DB >> 8115408

Molecular mapping of the Down syndrome phenotype on chromosome 21.

P M Sinet1, D Théophile, Z Rahmani, Z Chettouh, J L Blouin, M Prieur, B Noel, J M Delabar.   

Abstract

Mesh：

Year:  1993        PMID： 8115408

Source DB:  PubMed          Journal:  Prog Clin Biol Res        ISSN： 0361-7742


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  4 in total

1.  Expression of the DYRK1A gene correlates with its 3D positioning in the interphase nucleus of Down syndrome cells.

Authors:  Nerea Paz; Izaskun Felipe-Blanco; Félix Royo; Amaia Zabala; Isabel Guerra-Merino; África García-Orad; José L Zugaza; Luis A Parada
Journal:  Chromosome Res       Date:  2015-02-03       Impact factor: 5.239

Review 2.  Mouse models for Down syndrome-associated developmental cognitive disabilities.

Authors:  Chunhong Liu; Pavel V Belichenko; Li Zhang; Dawei Fu; Alexander M Kleschevnikov; Antonio Baldini; Stylianos E Antonarakis; William C Mobley; Y Eugene Yu
Journal:  Dev Neurosci       Date:  2011-08-25       Impact factor: 2.984

3.  A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype.

Authors:  James D Weisfeld-Adams; Amanda K Tkachuk; Kenneth N Maclean; Naomi L Meeks; Stuart A Scott
Journal:  NPJ Genom Med       Date:  2016-03-02       Impact factor: 8.617

4.  Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.

Authors:  Jochem M G Evers; Roman A Laskowski; Marta Bertolli; Jill Clayton-Smith; Charu Deshpande; Jacqueline Eason; Frances Elmslie; Frances Flinter; Carol Gardiner; Jane A Hurst; Helen Kingston; Usha Kini; Anne K Lampe; Derek Lim; Alison Male; Swati Naik; Michael J Parker; Sue Price; Leema Robert; Ajoy Sarkar; Volker Straub; Geoff Woods; Janet M Thornton; Caroline F Wright
Journal:  Hum Mol Genet       Date:  2017-02-01       Impact factor: 6.150
  4 in total

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