Literature DB >> 12978235

Choroideremia; clinical and genetic aspects.

A SORSBY, A FRANCESCHETTI, R JOSEPH, J B DAVEY.   

Abstract

Entities:  

Keywords:  CHOROID/absence

Mesh：

Year:  1952        PMID： 12978235      PMCID： PMC1323990          DOI： 10.1136/bjo.36.10.547

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


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  2 in total

1.  ATROPHIA GYRATA CHOROIDEAE ET RETINAE.

Authors:  J Saebø
Journal:  Br J Ophthalmol       Date:  1948-11       Impact factor: 4.638

2.  Choroideremia. A report of three cases in three generations.

Authors:  R F LOWE
Journal:  Br J Ophthalmol       Date:  1951-01       Impact factor: 4.638
  2 in total
  26 in total

1.  Choroid eremia.

Authors:  J K PAMEYER; P J WAARDENBURG; H E HENKES
Journal:  Br J Ophthalmol       Date:  1960-12       Impact factor: 4.638

2.  HAZARDS of tranquillity.

Authors: 
Journal:  Br Med J       Date:  1957-07-13

3.  Bibliography of human genetics.

Authors:  V R PHELPS
Journal:  Am J Hum Genet       Date:  1953-06       Impact factor: 11.025

4.  Derivation of clones from the choroideremia locus by preparative field inversion gel electrophoresis.

Authors:  T J van de Pol; F P Cremers; R M Brohet; B Wieringa; H H Ropers
Journal:  Nucleic Acids Res       Date:  1990-02-25       Impact factor: 16.971

5.  Ophthalmic genetics: a genealogical guide to sources in England and Wales.

Authors:  M Jay
Journal:  J Med Genet       Date:  1995-12       Impact factor: 6.318

Review 6.  A comprehensive review of retinal gene therapy.

Authors:  Shannon E Boye; Sanford L Boye; Alfred S Lewin; William W Hauswirth
Journal:  Mol Ther       Date:  2013-01-29       Impact factor: 11.454

7.  Haplotype and multipoint linkage analysis in Finnish choroideremia families.

Authors:  E M Sankila; T Lehner; A W Eriksson; H Forsius; J Kärnä; D Page; J Ott; A de la Chapelle
Journal:  Hum Genet       Date:  1989-12       Impact factor: 4.132

8.  Differential diagnosis between the primary total choroidal vascular atrophies.

Authors:  K Takki
Journal:  Br J Ophthalmol       Date:  1974-01       Impact factor: 4.638

9.  Isolation of a candidate gene for choroideremia.

Authors:  D E Merry; P A Jänne; J E Landers; R A Lewis; R L Nussbaum
Journal:  Proc Natl Acad Sci U S A       Date:  1992-03-15       Impact factor: 11.205

10.  Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation.

Authors:  R L Nussbaum; J G Lesko; R A Lewis; S A Ledbetter; D H Ledbetter
Journal:  Proc Natl Acad Sci U S A       Date:  1987-09       Impact factor: 11.205
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