Literature DB >> 6965838

[Increase of LDH A and partial trisomy 11p (author's transl)].

M O Rethoré, C Junien, A Aurias, J Couturier, B Dutrillaux, J C Kaplan, J Lejeune.   

Abstract

An increase of LDH A activity is observed in an adolescent patient trisomic for 11p with the exception of band 11p13. The clinical syndrome is delineated: broad faces, abundant eyebrows in their internal portion, enophtalmia, hypoplasic nasal bridge, hypertelorism, epicanthus, cleft palate or lip, macroglossia, hypotrophic muscles, soft and abundant skin, mental retardation.

Entities:  

Mesh:

Substances:

Year:  1980        PMID: 6965838

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  4 in total

1.  PK3: a new chromosome enzyme marker for gene dosage studies in chromosome 15 imbalance.

Authors:  C Junien; H Rubinson-Skala; J C Dreyfus; N Ravise; J Boué; A Boué; J C Kaplan
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

Review 2.  Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.

Authors:  A Slavotinek; L Gaunt; D Donnai
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

3.  Assignment of human uroporphyrinogen I synthase locus to region 11qter by gene dosage effect.

Authors:  H de Verneuil; N Phung; Y Nordmann; D Allard; F Leprince; H Jérome; A Aurias; M O Rethoré
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

4.  Direct gene dosage determination in patients with unbalanced chromosomal aberrations using cloned DNA sequences. Application to the regional assignment of the gene for alpha 2(I) procollagen (COLIA2).

Authors:  C Junien; C Huerre; M O Rethoré
Journal:  Am J Hum Genet       Date:  1983-07       Impact factor: 11.025

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.