Literature DB >> 25864795

Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome.

Arif O Khan1, Inam N Bifari2, Hanno J Bolz3.   

Abstract

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Year:  2015        PMID： 25864795     DOI： 10.1016/j.ophtha.2015.03.001

Source DB:  PubMed          Journal:  Ophthalmology        ISSN： 0161-6420            Impact factor:   12.079


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  4 in total

Review 1.  [Genetic diagnostics of retinal dystrophies : Breakthrough with new methods of DNA sequencing].

Authors:  H J Bolz
Journal:  Ophthalmologe       Date:  2018-12       Impact factor: 1.059

2.  Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3.

Authors:  Xueshan Xiao; Wenmin Sun; Jiamin Ouyang; Shiqiang Li; Xiaoyun Jia; Zhiqun Tan; J Fielding Hejtmancik; Qingjiong Zhang
Journal:  Hum Genet       Date:  2019-06-06       Impact factor: 4.132

3.  A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants.

Authors:  Maria F Shurygina; Maria A Parker; Catie L Schlechter; Rui Chen; Yumei Li; Richard G Weleber; Paul Yang; Mark E Pennesi
Journal:  BMC Ophthalmol       Date:  2019-12-07       Impact factor: 2.209

4.  Consensus clinical management guidelines for Alström syndrome.

Authors:  Natascia Tahani; Pietro Maffei; Hélène Dollfus; Richard Paisey; Diana Valverde; Gabriella Milan; Joan C Han; Francesca Favaretto; Shyam C Madathil; Charlotte Dawson; Matthew J Armstrong; Adrian T Warfield; Selma Düzenli; Clair A Francomano; Meral Gunay-Aygun; Francesca Dassie; Vincent Marion; Marina Valenti; Kerry Leeson-Beevers; Ann Chivers; Richard Steeds; Timothy Barrett; Tarekegn Geberhiwot
Journal:  Orphanet J Rare Dis       Date:  2020-09-21       Impact factor: 4.123
  4 in total

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