Literature DB >> 7154050

Interstitial deletion of the long arm of chromosome 5: 46,XX,del(5)(q13q22).

S Ohdo, H Madokoro, K Hayakawa.   

Abstract

Mesh:

Year:  1982        PMID: 7154050      PMCID: PMC1048972          DOI: 10.1136/jmg.19.6.479

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


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  2 in total

1.  [Dysmorphism syndrome, mental retardation and interstitial deletion of long arms of chromosome 5].

Authors:  G Pescia; A C Gaide; E Juillard
Journal:  Ann Genet       Date:  1978-09

2.  Interstitial deletion of the long arm of chromosome 5 in a deformed boy: 46,XY,del(5)(q13q15).

Authors:  C Stoll; J Levy; M P Roth
Journal:  J Med Genet       Date:  1980-12       Impact factor: 6.318

  2 in total
  2 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

  2 in total

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