Literature DB >> 26901671

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

Mélanie Fradin1, Estelle Colin2, Daniele Hannouche-Bared3, Isabelle Audo4, Jose Alain Sahel4, Saskia Biskup5, Wilfried Carré6, Alban Ziegler2, Christian Wilhelm5, Agnès Guichet2, Sylvie Odent1,7, Dominique Bonneau2,8.   

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Year:  2016        PMID: 26901671     DOI: 10.3109/13816810.2015.1087578

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN: 1381-6810            Impact factor:   1.803


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  6 in total

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

Authors:  Farid Afshar; Gavin Arno; Rola Ba-Abbad; Simona Degli Esposti; Michel Michaelides; Andrew R Webster; Omar A Mahroo
Journal:  Eye (Lond)       Date:  2019-09-30       Impact factor: 3.775

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.  Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1.

Authors:  Bojana Radojevic; Kaylie Jones; Martin Klein; Margarita Mauro-Herrera; Ronald Kingsley; David G Birch; Lea D Bennett
Journal:  Ophthalmic Genet       Date:  2020-10-14       Impact factor: 1.803

Review 4.  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

5.  Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.

Authors:  Simon M Petersen-Jones; Laurence M Occelli; Paige A Winkler; Winston Lee; Janet R Sparrow; Mai Tsukikawa; Sanford L Boye; Vince Chiodo; Jenina E Capasso; Elvir Becirovic; Christian Schön; Mathias W Seeliger; Alex V Levin; Stylianos Michalakis; William W Hauswirth; Stephen H Tsang
Journal:  J Clin Invest       Date:  2017-11-20       Impact factor: 14.808

6.  Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!

Authors:  Agathe Roubertie; Majida Charif; Pierre Meyer; Gael Manes; Isabelle Meunier; Guillaume Taieb; Raul Junta Morales; Agnès Guichet; Cecile Delettre; Emmanuelle Sarzi; Nicolas Leboucq; François Rivier; Guy Lenaers
Journal:  Ann Clin Transl Neurol       Date:  2019-07-27       Impact factor: 4.511

  6 in total

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