Literature DB >> 14047474

ON VARIOUS RECESSIVE BIOTYPES OF LEBER'S CONGENITAL AMAUROSIS.

P J WAARDENBURG, J SCHAPPERT-KIMMIJSER.   

Abstract

Keywords:  BLINDNESS; GENETICS, HUMAN

Mesh：

Year:  1963        PMID： 14047474     DOI： 10.1111/j.1755-3768.1963.tb02444.x

Source DB:  PubMed          Journal:  Acta Ophthalmol (Copenh)        ISSN： 0001-639X


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  10 in total

1.  An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis.

Authors:  S Heegaard; T Rosenberg; M Preising; J U Prause; T Bek
Journal:  Br J Ophthalmol       Date:  2003-08       Impact factor: 4.638

2.  Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.

Authors:  M D Mohamed; N C Topping; H Jafri; Y Raashed; M A McKibbin; C F Inglehearn
Journal:  Br J Ophthalmol       Date:  2003-04       Impact factor: 4.638

Review 3.  Retinal dystrophy and macular coloboma.

Authors:  J R Heckenlively; S G Foxman; E S Parelhoff
Journal:  Doc Ophthalmol       Date:  1988 Mar-Apr       Impact factor: 2.379

4.  Leber's congenital amaurosis--a new syndrome with a cardiomyopathy.

Authors:  I M Russell-Eggitt; D S Taylor; P T Clayton; A Garner; A Kriss; J F Taylor
Journal:  Br J Ophthalmol       Date:  1989-04       Impact factor: 4.638

5.  Usher's syndrome, with special reference to heterozygous manifestations.

Authors:  E B de Haas; G H van Lith; J Rijnders; A M Rümke; C Volmer
Journal:  Doc Ophthalmol       Date:  1970-07-24       Impact factor: 2.379

6.  Genetical aspects of severe visual impairment in childhood.

Authors:  G R Fraser
Journal:  J Med Genet       Date:  1970-09       Impact factor: 6.318

Review 7.  Review and update on the molecular basis of Leber congenital amaurosis.

Authors:  Oscar Francisco Chacon-Camacho; Juan Carlos Zenteno
Journal:  World J Clin Cases       Date:  2015-02-16       Impact factor: 1.337

Review 8.  Leber's Congenital Amaurosis and Gene Therapy.

Authors:  Brijesh Takkar; Pooja Bansal; Pradeep Venkatesh
Journal:  Indian J Pediatr       Date:  2017-07-07       Impact factor: 1.967

9.  Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13.

Authors:  A Camuzat; J M Rozet; H Dollfus; S Gerber; I Perrault; J Weissenbach; A Munnich; J Kaplan
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132

10.  Identification of differentially regulated proteins in a patient with Leber's Congenital Amaurosis--a proteomic study.

Authors:  Henrik Vorum; Morten Østergaard; Greg E Rice; Bent Honoré; Toke Bek
Journal:  Proteome Sci       Date:  2007-02-27       Impact factor: 2.480
  10 in total

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