Literature DB >> 1941972

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

C E de Die-Smulders, J J Engelen, J M Donk, J P Fryns.   

Abstract

Mesh：

Year:  1991        PMID： 1941972      PMCID： PMC1017067          DOI： 10.1136/jmg.28.10.725

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


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  2 in total

1.  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 2.  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
  2 in total
  7 in total

Review 1.  A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.

Authors:  T Cai; D A Tagle; X Xia; P Yu; X X He; L Y Li; J H Xia
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

2.  Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p.

Authors:  A Moncla; N Philip; J F Mattei
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318

Review 3.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

4.  Another example favouring the location of BPES at 3q2.

Authors:  J C de Almeida; J C Llerena Júnior; J B Gonçalves Neto; M Jung; R R Martins
Journal:  J Med Genet       Date:  1993-01       Impact factor: 6.318

5.  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

6.  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

7.  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
  7 in total

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