Literature DB >> 1583653

Cone and cone-rod dystrophies.

A T Moore.   

Abstract

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Mesh：

Year:  1992        PMID： 1583653      PMCID： PMC1015945          DOI： 10.1136/jmg.29.5.289

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


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  25 in total

1.  PI-1 CONE MONOCHROMATISM.

Authors:  M ALPERN; G B LEE; B E SPIVEY
Journal:  Arch Ophthalmol       Date:  1965-09

2.  Molecular genetics of human blue cone monochromacy.

Authors:  J Nathans; C M Davenport; I H Maumenee; R A Lewis; J F Hejtmancik; M Litt; E Lovrien; R Weleber; B Bachynski; F Zwas
Journal:  Science       Date:  1989-08-25       Impact factor: 47.728

3.  Molecular genetics of inherited variation in human color vision.

Authors:  J Nathans; T P Piantanida; R L Eddy; T B Shows; D S Hogness
Journal:  Science       Date:  1986-04-11       Impact factor: 47.728

4.  A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome.

Authors:  I K Jalili; N J Smith
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

5.  Cone dystrophy with dominant inheritance.

Authors:  J T Pearlman; W G Owen; D W Brounley; J J Sheppard
Journal:  Am J Ophthalmol       Date:  1974-03       Impact factor: 5.258

6.  Dominant macular degenerations. The cone dystrophies.

Authors:  A E Krill; A F Deutman
Journal:  Am J Ophthalmol       Date:  1972-03       Impact factor: 5.258

7.  Progressive cone degeneration, dominantly inherited.

Authors:  E L Berson; P Gouras; R D Gunkel
Journal:  Arch Ophthalmol       Date:  1968-07

8.  Cone dystrophy, nyctalopia, and supernormal rod responses. A new retinal degeneration.

Authors:  P Gouras; H M Eggers; C J MacKay
Journal:  Arch Ophthalmol       Date:  1983-05

9.  A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.

Authors:  T P Dryja; T L McGee; E Reichel; L B Hahn; G S Cowley; D W Yandell; M A Sandberg; E L Berson
Journal:  Nature       Date:  1990-01-25       Impact factor: 49.962

10.  Color plates to help identify patients with blue cone monochromatism.

Authors:  E L Berson; M A Sandberg; B Rosner; P L Sullivan
Journal:  Am J Ophthalmol       Date:  1983-06       Impact factor: 5.258
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  18 in total

1.  A new family of Greek origin maps to the CRD locus for autosomal dominant cone-rod dystrophy on 19q.

Authors:  M Papaioannou; D Bessant; A Payne; J Bellingham; C Rougas; A Loutradis-Anagnostou; C Gregory-Evans; A Balassopoulou; S Bhattacharya
Journal:  J Med Genet       Date:  1998-05       Impact factor: 6.318

2.  A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q.

Authors:  Kunka Kamenarova; Sylvia Cherninkova; Margarita Romero Durán; DeQuincy Prescott; Maria Lourdes Valdés Sánchez; Vanio Mitev; Ivo Kremensky; Radka Kaneva; Shomi S Bhattacharya; Ivailo Tournev; Christina Chakarova
Journal:  Eur J Hum Genet       Date:  2012-08-29       Impact factor: 4.246

3.  Refinement of the locus for autosomal recessive cone-rod dystrophy (CORD8) linked to chromosome 1q23-q24 in a Pakistani family and exclusion of candidate genes.

Authors:  Muhammad Ismail; Aiysha Abid; Khalid Anwar; S Qasim Mehdi; Shagufta Khaliq
Journal:  J Hum Genet       Date:  2006-08-03       Impact factor: 3.172

4.  A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.

Authors:  M Michaelides; G E Holder; D M Hunt; F W Fitzke; A C Bird; A T Moore
Journal:  Br J Ophthalmol       Date:  2005-02       Impact factor: 4.638

5.  Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone-rod dystrophy.

Authors:  C L Tucker; S C Woodcock; R E Kelsell; V Ramamurthy; D M Hunt; J B Hurley
Journal:  Proc Natl Acad Sci U S A       Date:  1999-08-03       Impact factor: 11.205

6.  A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.

Authors:  Sibel A Ugur Iseri; Yusuf K Durlu; Aslihan Tolun
Journal:  Eur J Hum Genet       Date:  2010-06-02       Impact factor: 4.246

7.  Somatic Gene Editing of GUCY2D by AAV-CRISPR/Cas9 Alters Retinal Structure and Function in Mouse and Macaque.

Authors:  K Tyler McCullough; Sanford L Boye; Diego Fajardo; Kaitlyn Calabro; James J Peterson; Christianne E Strang; Dibyendu Chakraborty; Sebastian Gloskowski; Scott Haskett; Steven Samuelsson; Haiyan Jiang; C Douglas Witherspoon; Paul D Gamlin; Morgan L Maeder; Shannon E Boye
Journal:  Hum Gene Ther       Date:  2018-12-20       Impact factor: 5.695

Review 8.  Ophthalmologic stem cell transplantation therapies.

Authors:  Timothy A Blenkinsop; Barbara Corneo; Sally Temple; Jeffrey H Stern
Journal:  Regen Med       Date:  2012-11       Impact factor: 3.806

9.  Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.

Authors:  Eran Pras; Almogit Abu; Ygal Rotenstreich; Isaac Avni; Orit Reish; Yair Morad; Haike Reznik-Wolf; Elon Pras
Journal:  Mol Vis       Date:  2009-08-28       Impact factor: 2.367

10.  Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.

Authors:  Marta Corton; Koji M Nishiguchi; Almudena Avila-Fernández; Konstantinos Nikopoulos; Rosa Riveiro-Alvarez; Sorina D Tatu; Carmen Ayuso; Carlo Rivolta
Journal:  PLoS One       Date:  2013-06-14       Impact factor: 3.240
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