Literature DB >> 3270326

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)

C Oley1, M Baraitser.   

Abstract

Entities:  

Mesh：

Year:  1988        PMID： 3270326      PMCID： PMC1015423          DOI： 10.1136/jmg.25.1.47

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


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  20 in total

1.  [COMPLICATED FAMILIAL BLEPHAROPHIMOSIS. STUDY OF MEMBERS OF THE BLE FAMILY].

Authors:  R SACREZ; J FRANCFORT; J G JUIF; J DE GROUCHY
Journal:  Ann Pediatr (Paris)       Date:  1963-10-02

2.  FAMILIAL LOW BIRTHWEIGHT DWARFISM WITH AN UNUSUAL FACIES AND A SKIN ERUPTION.

Authors:  V DUBOWITZ
Journal:  J Med Genet       Date:  1965-03       Impact factor: 6.318

3.  Congenital blepharophimosis associated with a unique generalized myopathy.

Authors:  O SCHWARTZ; R S JAMPEL
Journal:  Arch Ophthalmol       Date:  1962-07

4.  The genetic approach to hereditary congenital ptosis.

Authors:  B K RANK; J A THOMSON
Journal:  Aust N Z J Surg       Date:  1959-05

5.  Operations for epicanthus and blepharophimosis; an evaluation and a method for shortening the medial canthal ligament.

Authors:  C C JOHNSON
Journal:  Am J Ophthalmol       Date:  1956-01       Impact factor: 5.258

6.  Blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus--a syndrome with no name.

Authors:  R Kohn; P E Romano
Journal:  Am J Ophthalmol       Date:  1971-09       Impact factor: 5.258

7.  Blepharophimosis and its association with female infertility.

Authors:  C A Jones; J R Collin
Journal:  Br J Ophthalmol       Date:  1984-08       Impact factor: 4.638

8.  A dominantly inherited congenital anomaly syndrome with blepharophimosis.

Authors:  S M Pueschel; G Barsel-Bowers
Journal:  J Pediatr       Date:  1979-12       Impact factor: 4.406

9.  Blepharophimosis, ptosis, epicanthus inversus, and primary amenorrhea. A dominant trait.

Authors:  P L Townes; E K Muechler
Journal:  Arch Ophthalmol       Date:  1979-09

10.  Ptosis with blepharophimosis and epicanthus inversus.

Authors:  D Elliot; A F Wallace
Journal:  Br J Plast Surg       Date:  1986-04
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  27 in total

1.  The Ohdo blepharophimosis syndrome: a third case.

Authors:  L G Biesecker
Journal:  J Med Genet       Date:  1991-02       Impact factor: 6.318

Review 2.  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

3.  FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

Authors:  Juan Wang; Jinling Liu; Qingjiong Zhang
Journal:  Mol Vis       Date:  2007-01-26       Impact factor: 2.367

4.  A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23.

Authors:  P Amati; P Gasparini; J Zlotogora; L Zelante; J C Chomel; A Kitzis; J Kaplan; D Bonneau
Journal:  Am J Hum Genet       Date:  1996-05       Impact factor: 11.025

5.  Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome).

Authors:  R Mingarelli; A Castriota Scanderbeg; B Dallapiccola
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

6.  An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.

Authors:  Hung-Chun Yu; Elizabeth A Geiger; Livija Medne; Elaine H Zackai; Tamim H Shaikh
Journal:  Am J Med Genet A       Date:  2014-01-23       Impact factor: 2.802

7.  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

8.  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

9.  Pitfalls in counselling of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)

Authors:  I K Temple; M Baraitser
Journal:  J Med Genet       Date:  1989-08       Impact factor: 6.318

Review 10.  Genetics of primary ovarian insufficiency: new developments and opportunities.

Authors:  Yingying Qin; Xue Jiao; Joe Leigh Simpson; Zi-Jiang Chen
Journal:  Hum Reprod Update       Date:  2015-08-04       Impact factor: 15.610
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