Literature DB >> 34416425

Intrafamilial Variability of Ocular Manifestations of von Hippel-Lindau Disease.

Randy Christopher Bowen1, H Culver Boldt2, Robert F Mullins2, Matthew G Field1, Louisa M Affatigato2, Jeremy M Hoffmann2, James C Folk1, Karen M Gehrs1, Ian C Han2, Elliott H Sohn2, Stephen R Russell2, Edwin M Stone2, Budd A Tucker2, Elaine M Binkley3.   

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Year:  2021        PMID: 34416425      PMCID: PMC9367018          DOI: 10.1016/j.oret.2021.08.005

Source DB:  PubMed          Journal:  Ophthalmol Retina        ISSN: 2468-6530


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  7 in total

1.  VON HIPPEL-LINDAU DISEASE: Update on Pathogenesis and Systemic Aspects.

Authors:  Mary E Aronow; Henry E Wiley; Alain Gaudric; Valerie Krivosic; Michael B Gorin; Carol L Shields; Jerry A Shields; Eric W Jonasch; Arun D Singh; Emily Y Chew
Journal:  Retina       Date:  2019-12       Impact factor: 4.256

2.  Genotype-phenotype correlations in hereditary familial retinoblastoma.

Authors:  Melissa Taylor; Catherine Dehainault; Laurence Desjardins; François Doz; Christine Levy; Xavier Sastre; Jérôme Couturier; Dominique Stoppa-Lyonnet; Claude Houdayer; Marion Gauthier-Villars
Journal:  Hum Mutat       Date:  2007-03       Impact factor: 4.878

3.  A controlled retrospective study of ganciclovir treatment for cytomegalovirus retinopathy. Use of a standardized system for the assessment of disease outcome. UCLA CMV Retinopathy. Study Group.

Authors:  G N Holland; W C Buhles; B Mastre; H J Kaplan
Journal:  Arch Ophthalmol       Date:  1989-12

4.  Identification of the von Hippel-Lindau disease tumor suppressor gene.

Authors:  F Latif; K Tory; J Gnarra; M Yao; F M Duh; M L Orcutt; T Stackhouse; I Kuzmin; W Modi; L Geil
Journal:  Science       Date:  1993-05-28       Impact factor: 47.728

5.  Longitudinal analysis of retinal hemangioblastomatosis and visual function in ocular von Hippel-Lindau disease.

Authors:  Brian C Toy; Elvira Agrón; Divya Nigam; Emily Y Chew; Wai T Wong
Journal:  Ophthalmology       Date:  2012-08-17       Impact factor: 12.079

6.  An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects.

Authors:  A R Webster; F M Richards; F E MacRonald; A T Moore; E R Maher
Journal:  Am J Hum Genet       Date:  1998-10       Impact factor: 11.025

Review 7.  VHL, the story of a tumour suppressor gene.

Authors:  Lucy Gossage; Tim Eisen; Eamonn R Maher
Journal:  Nat Rev Cancer       Date:  2015-01       Impact factor: 60.716

  7 in total
  1 in total

1.  Biocompatibility of Human Induced Pluripotent Stem Cell-Derived Retinal Progenitor Cell Grafts in Immunocompromised Rats.

Authors:  Ian C Han; Laura R Bohrer; Katherine N Gibson-Corley; Luke A Wiley; Arwin Shrestha; Brynnon E Harman; Chunhua Jiao; Elliott H Sohn; Rion Wendland; Brittany N Allen; Kristan S Worthington; Robert F Mullins; Edwin M Stone; Budd A Tucker
Journal:  Cell Transplant       Date:  2022 Jan-Dec       Impact factor: 4.139

  1 in total

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