Literature DB >> 31570810

Awareness of olfactory impairment in a cohort of patients with CNGB1-associated retinitis pigmentosa.

Farid Afshar1, Gavin Arno1,2, Rola Ba-Abbad1,2, Simona Degli Esposti1, Michel Michaelides1,2, Andrew R Webster1,2, Omar A Mahroo3,4,5,6.   

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Year:  2019        PMID： 31570810      PMCID： PMC7265290          DOI： 10.1038/s41433-019-0609-6

Source DB:  PubMed          Journal:  Eye (Lond)        ISSN： 0950-222X            Impact factor:   3.775


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  3 in total

1.  Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45.

Authors:  Mélanie Fradin; Estelle Colin; Daniele Hannouche-Bared; Isabelle Audo; Jose Alain Sahel; Saskia Biskup; Wilfried Carré; Alban Ziegler; Christian Wilhelm; Agnès Guichet; Sylvie Odent; Dominique Bonneau
Journal:  Ophthalmic Genet       Date:  2016-02-22       Impact factor: 1.803

2.  Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa.

Authors:  Peter Charbel Issa; Peggy Reuter; Laura Kühlewein; Johannes Birtel; Martin Gliem; Anke Tropitzsch; Katherine L Whitcroft; Hanno J Bolz; Kenji Ishihara; Robert E MacLaren; Susan M Downes; Akio Oishi; Eberhart Zrenner; Susanne Kohl; Thomas Hummel
Journal:  JAMA Ophthalmol       Date:  2018-07-01       Impact factor: 7.389

3.  Isolated rod dysfunction associated with a novel genotype of CNGB1.

Authors:  Rola Ba-Abbad; Graham E Holder; Anthony G Robson; Magella M Neveu; Naushin Waseem; Gavin Arno; Andrew R Webster
Journal:  Am J Ophthalmol Case Rep       Date:  2019-03-19
  3 in total
  1 in total

Review 1.  CNGB1-related rod-cone dystrophy: A mutation review and update.

Authors:  Marco Nassisi; Vasily M Smirnov; Cyntia Solis Hernandez; Saddek Mohand-Saïd; Christel Condroyer; Aline Antonio; Laura Kühlewein; Melanie Kempf; Susanne Kohl; Bernd Wissinger; Fadi Nasser; Sara D Ragi; Nan-Kai Wang; Janet R Sparrow; Vivienne C Greenstein; Stylianos Michalakis; Omar A Mahroo; Rola Ba-Abbad; Michel Michaelides; Andrew R Webster; Simona Degli Esposti; Brooke Saffren; Jenina Capasso; Alex Levin; William W Hauswirth; Claire-Marie Dhaenens; Sabine Defoort-Dhellemmes; Stephen H Tsang; Eberhart Zrenner; Jose-Alain Sahel; Simon M Petersen-Jones; Christina Zeitz; Isabelle Audo
Journal:  Hum Mutat       Date:  2021-05-16       Impact factor: 4.700
  1 in total

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