Literature DB >> 6839530

Interstitial deletion in the long arm of chromosome No. 5.

W Harprecht-Beato, P Kaiser, E Steuber, W Reinhard.   

Abstract

Mesh：

Year:  1983        PMID： 6839530     DOI： 10.1111/j.1399-0004.1983.tb01867.x

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


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  3 in total

1.  Deletion of band 5q21 in association with a de novo translocation involving 2p and 5q.

Authors:  J F Yung; N Williamson; I Salafsky; J J Hoo
Journal:  J Med Genet       Date:  1988-08       Impact factor: 6.318

2.  MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.

Authors:  N Le Meur; M Holder-Espinasse; S Jaillard; A Goldenberg; S Joriot; P Amati-Bonneau; A Guichet; M Barth; A Charollais; H Journel; S Auvin; C Boucher; J-P Kerckaert; V David; S Manouvrier-Hanu; P Saugier-Veber; T Frébourg; C Dubourg; J Andrieux; D Bonneau
Journal:  J Med Genet       Date:  2009-07-09       Impact factor: 6.318

3.  NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness.

Authors:  Kerry K Brown; Fowzan S Alkuraya; Michael Matos; Richard L Robertson; Virginia E Kimonis; Cynthia C Morton
Journal:  Am J Med Genet A       Date:  2009-05       Impact factor: 2.802
  3 in total

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