Literature DB >> 8651270

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

P Amati, P Gasparini, J Zlotogora, L Zelante, J C Chomel, A Kitzis, J Kaplan, D Bonneau.   

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Year:  1996        PMID： 8651270      PMCID： PMC1914611     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  11 in total

1.  Familial blepharophimosis: an uncommon marker of ovarian dysgenesis.

Authors:  M Nicolino; M Bost; M David; J L Chaussain
Journal:  J Pediatr Endocrinol Metab       Date:  1995 Apr-Jun       Impact factor: 1.634

2.  The genetics of XX gonadal dysgenesis.

Authors:  K Aittomäki
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

3.  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

4.  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

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

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

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

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

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

8.  Blepharophimosis syndrome is linked to chromosome 3q.

Authors:  K W Small; M Stalvey; L Fisher; L Mullen; C Dickel; K Beadles; R Reimer; A Lessner; K Lewis; M A Pericak-Vance
Journal:  Hum Mol Genet       Date:  1995-03       Impact factor: 6.150

9.  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

10.  Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies.

Authors:  C T Lawson; C Toomes; A Fryer; M J Carette; G M Taylor; Y Fukushima; M J Dixon
Journal:  Hum Mol Genet       Date:  1995-05       Impact factor: 6.150
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  10 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.  Isolation and characterization of ubiquitin-activating enzyme E1-domain containing 1, UBE1DC1.

Authors:  Tonghai Dou; Shaohua Gu; Jianping Liu; Fei Chen; Li Zeng; Lingchen Guo; Yi Xie; Yumin Mao
Journal:  Mol Biol Rep       Date:  2005-12       Impact factor: 2.316

3.  Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.

Authors:  S Nuovo; M Passeri; E Di Benedetto; M Calanchini; I Meldolesi; M C Di Giacomo; D Petruzzi; M R Piemontese; L Zelante; F Sangiuolo; G Novelli; A Fabbri; F Brancati
Journal:  J Endocrinol Invest       Date:  2015-06-23       Impact factor: 4.256

Review 4.  Minireview: Activin Signaling in Gonadotropes: What Does the FOX say… to the SMAD?

Authors:  Jérôme Fortin; Luisina Ongaro; Yining Li; Stella Tran; Pankaj Lamba; Ying Wang; Xiang Zhou; Daniel J Bernard
Journal:  Mol Endocrinol       Date:  2015-05-05

5.  Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) Type 1 in an Indian Family.

Authors:  Abhinav Kumar Gupta; Deepak Chand Gupta; Saqib Ahmad Khan; Syed Mohd Razi
Journal:  J ASEAN Fed Endocr Soc       Date:  2017-05-09

6.  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

7.  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

8.  Unique case reports associated with ovarian failure: necessity of two intact x chromosomes.

Authors:  Lakshmi Rao Kandukuri; Venkata Padmalatha; Murthy Kanakavalli; Raseswari Turlapati; Mangalipally Swapna; Metuku Vidyadhari; Govindaraghavan Saranaya; Kattera Himaja; Mamata Deenadayal; Bipin Kumar Sethi; Prasun Deb; Nalini Gupta; Baidyanath Chakraborthy; Pratibha Nallari; Lalji Singh
Journal:  Case Rep Genet       Date:  2012-04-11

9.  Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome.

Authors:  Min Xue; Jie Zheng; Qing Zhou; J Fielding Hejtmancik; Yuan Wang; Shouling Li
Journal:  BMC Med Genet       Date:  2015-09-01       Impact factor: 2.103

10.  Differential apoptotic and proliferative activities of wild-type FOXL2 and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)-associated mutant FOXL2 proteins.

Authors:  Jae-Hong Kim; Jeehyeon Bae
Journal:  J Reprod Dev       Date:  2013-11-15       Impact factor: 2.214
  10 in total

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