Literature DB >> 17968144

FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome.

Jeyabalan Nallathambi1, Guruswamy Neethirajan, Kim Usha, Jethani Jitendra, Elfride De Baere, Periasamy Sundaresan.   

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Year:  2007        PMID： 17968144     DOI： 10.1007/s12041-007-0021-z

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  9 in total

Review 1.  Nonsense-mediated mRNA decay in health and disease.

Authors:  P A Frischmeyer; H C Dietz
Journal:  Hum Mol Genet       Date:  1999       Impact factor: 6.150

Review 2.  Structure, evolution and expression of the FOXL2 transcription unit.

Authors:  J Cocquet; E De Baere; M Gareil; M Pannetier; X Xia; M Fellous; R A Veitia
Journal:  Cytogenet Genome Res       Date:  2003       Impact factor: 1.636

3.  Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C).

Authors:  Arun Kumar; Mohan Babu; Anitha Raghunath; Conjeevaram Prabhakaran Venkatesh
Journal:  Mol Vis       Date:  2004-07-09       Impact factor: 2.367

4.  Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.

Authors:  D Beysen; J Raes; B P Leroy; A Lucassen; J R W Yates; J Clayton-Smith; H Ilyina; S Sklower Brooks; S Christin-Maitre; M Fellous; J P Fryns; J R Kim; P Lapunzina; E Lemyre; F Meire; L M Messiaen; C Oley; M Splitt; J Thomson; Y Van de Peer; R A Veitia; A De Paepe; E De Baere
Journal:  Am J Hum Genet       Date:  2005-06-16       Impact factor: 11.025

5.  A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation.

Authors:  S Caburet; A Demarez; L Moumné; M Fellous; E De Baere; R A Veitia
Journal:  J Med Genet       Date:  2004-12       Impact factor: 6.318

6.  A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction.

Authors:  Jeyabalan Nallathambi; Lara Moumné; Elfride De Baere; Diane Beysen; Kim Usha; Periasamy Sundaresan; Reiner A Veitia
Journal:  Hum Genet       Date:  2006-11-07       Impact factor: 4.132

7.  The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types.

Authors:  J Zlotogora; M Sagi; T Cohen
Journal:  Am J Hum Genet       Date:  1983-09       Impact factor: 11.025

8.  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

9.  The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.

Authors:  L Crisponi; M Deiana; A Loi; F Chiappe; M Uda; P Amati; L Bisceglia; L Zelante; R Nagaraja; S Porcu; M S Ristaldi; R Marzella; M Rocchi; M Nicolino; A Lienhardt-Roussie; A Nivelon; A Verloes; D Schlessinger; P Gasparini; D Bonneau; A Cao; G Pilia
Journal:  Nat Genet       Date:  2001-02       Impact factor: 38.330
  9 in total
  1 in total

1.  Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome.

Authors:  Bhavin M Shah; Tanuj Dada; Anita Panda; Mukesh Tanwar; Shibal Bhartiya; Rima Dada
Journal:  Indian J Ophthalmol       Date:  2014-03       Impact factor: 1.848
  1 in total

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