Literature DB >> 20095987

Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome.

J F Mazzeu1, A M Vianna-Morgante, A C V Krepischi, A Oudakker, C Rosenberg, K Szuhai, J McGill, J Maccraughan, H van Bokhoven, H G Brunner.   

Abstract

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Year:  2010        PMID： 20095987     DOI： 10.1111/j.1399-0004.2009.01355.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  5 in total

1.  Two Novel Variants of WDR26 in Chinese Patients with Intellectual Disability.

Authors:  Jiacheng Hu; Mingming Xu; Xiaobo Zhu; Yu Zhang
Journal:  Genes (Basel)       Date:  2022-05-02       Impact factor: 4.141

2.  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

Review 3.  Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns.

Authors:  Curtis R Coughlin; Gunter H Scharer; Tamim H Shaikh
Journal:  Genome Med       Date:  2012-10-30       Impact factor: 11.117

4.  Psychomotor retardation with a 1q42.11-q42.12 deletion.

Authors:  Jialing He; Yingjun Xie; Shu Kong; Wenjun Qiu; Xiaoman Wang; Ding Wang; Xiaofang Sun; Deming Sun
Journal:  Hereditas       Date:  2017-03-06       Impact factor: 3.271

5.  ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome.

Authors:  J Zak; V Vives; D Szumska; A Vernet; J E Schneider; P Miller; E A Slee; S Joss; Y Lacassie; E Chen; L F Escobar; M Tucker; A S Aylsworth; H A Dubbs; A T Collins; J Andrieux; A Dieux-Coeslier; E Haberlandt; D Kotzot; D A Scott; M J Parker; Z Zakaria; Y S Choy; D Wieczorek; A M Innes; K R Jun; S Zinner; F Prin; C A Lygate; P Pretorius; J A Rosenfeld; T J Mohun; X Lu
Journal:  Cell Death Differ       Date:  2016-07-22       Impact factor: 15.828
  5 in total

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