Literature DB >> 6782213

A probable case of the homozygous condition of the aniridia gene.

S V Hodgson, K E Saunders.   

Abstract

A non-consanguineous union between two people with congenital aniridia is described which resulted in the stillbirth of a female fetus with complete absence of eyes, nose, and adrenal glands.

Entities:  

Mesh：

Year:  1980        PMID： 6782213      PMCID： PMC1885928          DOI： 10.1136/jmg.17.6.478

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


  5 in total

1.  A pedigree of aniridia with a discussion of germinal mosaicism in man.

Authors:  T E REED; H F FALLS
Journal:  Am J Hum Genet       Date:  1955-03       Impact factor: 11.025

2.  A family study of aniridia.

Authors:  J H GROVE; M W SHAW; G BOURQUE
Journal:  Arch Ophthalmol       Date:  1961-01

3.  Congenital Aniridia.

Authors:  M W Shaw; H F Falls; J V Neel
Journal:  Am J Hum Genet       Date:  1960-12       Impact factor: 11.025

4.  Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion.

Authors:  V M Riccardi; E Sujansky; A C Smith; U Francke
Journal:  Pediatrics       Date:  1978-04       Impact factor: 7.124

5.  Familial aniridia with preserved ocular function.

Authors:  F J Elsas; I H Maumenee; K R Kenyon; F Yoder
Journal:  Am J Ophthalmol       Date:  1977-05       Impact factor: 5.258
  5 in total
  6 in total

Review 1.  Genetics of aniridia and anterior segment dysgenesis.

Authors:  A Churchill; A Booth
Journal:  Br J Ophthalmol       Date:  1996-07       Impact factor: 4.638

2.  Pax6 expressed in osteocytes inhibits canonical Wnt signaling.

Authors:  Ajita Jami; Jogeswar Gadi; Min Jung Lee; Eun Jin Kim; Mi Jeong Lee; Han-Sung Jung; Hong-Hee Kim; Sung-Kil Lim
Journal:  Mol Cells       Date:  2013-03-22       Impact factor: 5.034

3.  Craniofacial abnormalities in homozygous Small eye (Sey/Sey) embryos and newborn mice.

Authors:  M H Kaufman; H H Chang; J P Shaw
Journal:  J Anat       Date:  1995-06       Impact factor: 2.610

Review 4.  Aniridia: recent achievements in paediatric practice.

Authors:  I Ivanov; A Shuper; M Shohat; M Snir; R Weitz
Journal:  Eur J Pediatr       Date:  1995-10       Impact factor: 3.183

5.  Cloning and characterization of canine PAX6 and evaluation as a candidate gene in a canine model of aniridia.

Authors:  Linda S Hunter; Duska J Sidjanin; Manuel Villagrasa Hijar; Jennifer L Johnson; Ewen Kirkness; Gregory M Acland; Gustavo D Aguirre
Journal:  Mol Vis       Date:  2007-03-26       Impact factor: 2.367

6.  The Pax6 master control gene initiates spontaneous retinal development via a self-organising Turing network.

Authors:  Timothy Grocott; Estefania Lozano-Velasco; Gi Fay Mok; Andrea E Münsterberg
Journal:  Development       Date:  2020-12-23       Impact factor: 6.862
  6 in total

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