Literature DB >> 8558553

Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24.

H S Harrar1, S Jeffery, M A Patton.   

Abstract

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Year:  1995        PMID： 8558553      PMCID： PMC1051698          DOI： 10.1136/jmg.32.10.774

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


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  19 in total

1.  Surgical treatment of congenital palpebral phimosis; the Y-V operation.

Authors:  W L HUGHES
Journal:  AMA Arch Ophthalmol       Date:  1955-10

2.  Visual development in the blepharophimosis syndrome.

Authors:  M Beaconsfield; J W Walker; J R Collin
Journal:  Br J Ophthalmol       Date:  1991-12       Impact factor: 4.638

3.  Localization of the McLeod locus (XK) within Xp21 by deletion analysis.

Authors:  C J Bertelson; A O Pogo; A Chaudhuri; W L Marsh; C M Redman; D Banerjee; W A Symmans; T Simon; D Frey; L M Kunkel
Journal:  Am J Hum Genet       Date:  1988-05       Impact factor: 11.025

4.  The Marden-Walker syndrome.

Authors:  C R King; E Magenis
Journal:  J Med Genet       Date:  1978-10       Impact factor: 6.318

5.  Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3) (q22.2q23): a putative gene responsible for microcephaly close to the BPES gene?

Authors:  S Ishikiriyama; M Goto
Journal:  Am J Med Genet       Date:  1993-09-15

6.  A family with autosomal dominant polycystic kidney disease not linked to chromosome 16p13.3.

Authors:  S Jeffery; A K Saggar-Malik; S Morgan; G A MacGregor
Journal:  Clin Genet       Date:  1993-10       Impact factor: 4.438

7.  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 8.  Boy with a chromosome del (3)(q12q23) and blepharophimosis syndrome.

Authors:  H Fujita; J Meng; M Kawamura; N Tozuka; F Ishii; N Tanaka
Journal:  Am J Med Genet       Date:  1992-11-01

9.  Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth.

Authors:  S Ohdo; H Madokoro; T Sonoda; K Hayakawa
Journal:  J Med Genet       Date:  1986-06       Impact factor: 6.318

10.  Blepharophimosis sequence and de novo balanced autosomal translocation [46,XY,t(3;4)(q23;p15.2)]: possible assignment of the trait to 3q23.

Authors:  Y Fukushima; K Wakui; T Nishida; Y Ueoka
Journal:  Am J Med Genet       Date:  1991-09-15
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  5 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.  A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1.

Authors:  E C Engle; A E Castro; M E Macy; J H Knoll; A H Beggs
Journal:  Am J Hum Genet       Date:  1997-05       Impact factor: 11.025

3.  FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.

Authors:  Elfride De Baere; Diane Beysen; Christine Oley; Birgit Lorenz; Julie Cocquet; Paul De Sutter; Koen Devriendt; Michael Dixon; Marc Fellous; Jean-Pierre Fryns; Arturo Garza; Christoffer Jonsrud; Pasi A Koivisto; Amanda Krause; Bart P Leroy; Françoise Meire; Astrid Plomp; Lionel Van Maldergem; Anne De Paepe; Reiner Veitia; Ludwine Messiaen
Journal:  Am J Hum Genet       Date:  2003-01-14       Impact factor: 11.025

4.  Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

Authors:  Shanshan Hu; Junjing Guo; Binbin Wang; Jing Wang; Zhou Zhou; Guangkai Zhou; Xuchen Ding; Xu Ma; Yanhua Qi
Journal:  Mol Vis       Date:  2011-02-09       Impact factor: 2.367

5.  Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.

Authors:  Lu Zhou; Jiaqi Wang; Tailing Wang
Journal:  BMC Med Genet       Date:  2018-07-20       Impact factor: 2.103
  5 in total

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