Literature DB >> 30480704

Author Response: Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease.

Frans P M Cremers1,2, Stéphanie S Cornelis1,2, Esmee H Runhart2,3, Galuh D N Astuti1,4.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2018        PMID： 30480704     DOI： 10.1167/iovs.18-25944

Source DB:  PubMed          Journal:  Invest Ophthalmol Vis Sci        ISSN： 0146-0404            Impact factor:   4.799


× No keyword cloud information.
  10 in total

Review 1.  Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Authors:  Frans P M Cremers; Winston Lee; Rob W J Collin; Rando Allikmets
Journal:  Prog Retin Eye Res       Date:  2020-04-09       Impact factor: 21.198

2.  Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry.

Authors:  Esmee H Runhart; Patty Dhooge; Magda Meester-Smoor; Jeroen Pas; Jan Willem R Pott; Redmer van Leeuwen; Hester Y Kroes; Arthur A Bergen; Yvonne de Jong-Hesse; Alberta A Thiadens; Mary J van Schooneveld; Maria van Genderen; Camiel Boon; Caroline Klaver; L Ingeborg van den Born; Frans P M Cremers; Carel B Hoyng
Journal:  Acta Ophthalmol       Date:  2021-08-25       Impact factor: 3.988

3.  Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity.

Authors:  Stéphanie S Cornelis; Esmee H Runhart; Miriam Bauwens; Zelia Corradi; Elfride De Baere; Susanne Roosing; Lonneke Haer-Wigman; Claire-Marie Dhaenens; Anneke T Vulto-van Silfhout; Frans P M Cremers
Journal:  Am J Hum Genet       Date:  2022-02-03       Impact factor: 11.043

Review 4.  An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story.

Authors:  Saoud Al-Khuzaei; Suzanne Broadgate; Charlotte R Foster; Mital Shah; Jing Yu; Susan M Downes; Stephanie Halford
Journal:  Genes (Basel)       Date:  2021-08-13       Impact factor: 4.096

5.  Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.

Authors:  Esmee H Runhart; Mubeen Khan; Stéphanie S Cornelis; Susanne Roosing; Marta Del Pozo-Valero; Tina M Lamey; Petra Liskova; Lisa Roberts; Heidi Stöhr; Caroline C W Klaver; Carel B Hoyng; Frans P M Cremers; Claire-Marie Dhaenens
Journal:  JAMA Ophthalmol       Date:  2020-10-01       Impact factor: 7.389

6.  A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss.

Authors:  Suzanne E de Bruijn; Jeroen J Smits; Ronald J E Pennings; Hannie Kremer; Chang Liu; Cornelis P Lanting; Andy J Beynon; Joëlle Blankevoort; Jaap Oostrik; Wouter Koole; Erik de Vrieze; Cor W R J Cremers; Frans P M Cremers; Susanne Roosing; Helger G Yntema; Henricus P M Kunst; Bo Zhao
Journal:  J Med Genet       Date:  2020-07-06       Impact factor: 6.318

7.  Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.

Authors:  Anna M Tracewska; Beata Kocyła-Karczmarewicz; Agnieszka Rafalska; Joanna Murawska; Joanna Jakubaszko-Jablonska; Małgorzata Rydzanicz; Piotr Stawiński; Elżbieta Ciara; Muhammad Imran Khan; Arjen Henkes; Alexander Hoischen; Christian Gilissen; Maartje van de Vorst; Frans P M Cremers; Rafał Płoski; Krystyna H Chrzanowska
Journal:  Genes (Basel)       Date:  2019-11-21       Impact factor: 4.096

8.  Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.

Authors:  Jana Zernant; Winston Lee; Jun Wang; Kerry Goetz; Ehsan Ullah; Takayuki Nagasaki; Pei-Yin Su; Gerald A Fishman; Stephen H Tsang; Santa J Tumminia; Brian P Brooks; Robert B Hufnagel; Rui Chen; Rando Allikmets
Journal:  PLoS Genet       Date:  2022-03-30       Impact factor: 5.917

9.  Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.

Authors:  Lizhu Yang; Kaoru Fujinami; Shinji Ueno; Kazuki Kuniyoshi; Takaaki Hayashi; Mineo Kondo; Atsushi Mizota; Nobuhisa Naoi; Kei Shinoda; Shuhei Kameya; Yu Fujinami-Yokokawa; Xiao Liu; Gavin Arno; Nikolas Pontikos; Taro Kominami; Hiroko Terasaki; Hiroyuki Sakuramoto; Satoshi Katagiri; Kei Mizobuchi; Natsuko Nakamura; Go Mawatari; Toshihide Kurihara; Kazuo Tsubota; Yozo Miyake; Kazutoshi Yoshitake; Takeshi Iwata; Kazushige Tsunoda
Journal:  Sci Rep       Date:  2020-03-26       Impact factor: 4.379

10.  Updating the Genetic Landscape of Inherited Retinal Dystrophies.

Authors:  Belén García Bohórquez; Elena Aller; Ana Rodríguez Muñoz; Teresa Jaijo; Gema García García; José M Millán
Journal:  Front Cell Dev Biol       Date:  2021-07-13
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.