Literature DB >> 8481195

Another example favouring the location of BPES at 3q2.

J C de Almeida, J C Llerena Júnior, J B Gonçalves Neto, M Jung, R R Martins.   

Abstract

Mesh：

Year:  1993        PMID： 8481195      PMCID： PMC1016250          DOI： 10.1136/jmg.30.1.86

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


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  4 in total

1.  Further evidence for the location of the BPES gene at 3q2.

Authors:  C E de Die-Smulders; J J Engelen; J M Donk; J P Fryns
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

2.  Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)

Authors:  C Oley; M Baraitser
Journal:  J Med Genet       Date:  1988-01       Impact factor: 6.318

3.  Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndrome.

Authors:  A Smith; I S Fraser; R P Shearman; P Russell
Journal:  J Med Genet       Date:  1989-07       Impact factor: 6.318

Review 4.  Interstitial deletion of the long arm of chromosome 3: case report, review, and definition of a phenotype.

Authors:  M Alvarado; M Bocian; A P Walker
Journal:  Am J Med Genet       Date:  1987-08
  4 in total
  5 in total

Review 1.  Balanced translocations in mental retardation.

Authors:  Geert Vandeweyer; R Frank Kooy
Journal:  Hum Genet       Date:  2009-04-05       Impact factor: 4.132

2.  Interstitial deletion of band 3q25.

Authors:  A M Slavotinek; S M Huson; M Fitchett
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

3.  Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay.

Authors:  M Warburg; M Bugge; K Brøndum-Nielsen
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

4.  Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).

Authors:  J Wolstenholme; J Brown; K G Masters; C Wright; C J English
Journal:  J Med Genet       Date:  1994-08       Impact factor: 6.318

5.  A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23.

Authors:  P Amati; J C Chomel; A Nivelon-Chevalier; S Gilgenkrantz; A Kitzis; J Kaplan; D Bonneau
Journal:  Hum Genet       Date:  1995-08       Impact factor: 4.132
  5 in total

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