Literature DB >> 29167897

Retinal Avascularity and Neovascularization Associated With LAMA1 (laminin1) Mutation in Poretti-Boltshauser Syndrome.

Elizabeth Marlow1, R V Paul Chan1,2, Erica Oltra1, Irene Rusu1, Mrinali P Gupta1.   

Abstract

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Year:  2018        PMID: 29167897     DOI: 10.1001/jamaophthalmol.2017.5060

Source DB:  PubMed          Journal:  JAMA Ophthalmol        ISSN: 2168-6165            Impact factor:   7.389


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  5 in total

1.  Understanding What You Have Found: A Family With a Mutation in the LAMA1 Gene With Literature Review.

Authors:  Muhsin Elmas; Basak Gogus; Mustafa Solak
Journal:  Clin Med Insights Case Rep       Date:  2020-08-18

2.  Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.

Authors:  Laura Powell; Eric Olinger; Sarah Wedderburn; Vijayalakshmi Salem Ramakumaran; Usha Kini; Jill Clayton-Smith; Simon C Ramsden; Sarah J Rice; Miguel Barroso-Gil; Ian Wilson; Lorraine Cowley; Sally Johnson; Elizabeth Harris; Tara Montgomery; Marta Bertoli; Eugen Boltshauser; John A Sayer
Journal:  Brain Commun       Date:  2021-07-16

3.  OCULAR MANIFESTATIONS OF PORETTI-BOLTSHAUSER SYNDROME: FINDINGS FROM MULTIMODAL IMAGING AND ELECTROPHYSIOLOGY.

Authors:  Cindy X Cai; Michelle Go; Michael P Kelly; Sandra Holgado; Cynthia A Toth
Journal:  Retin Cases Brief Rep       Date:  2020-03-17

4.  LAMA2 regulates the fate commitment of mesenchymal stem cells via hedgehog signaling.

Authors:  Yuan Zhu; Xiao Zhang; Ranli Gu; Xuenan Liu; Siyi Wang; Dandan Xia; Zheng Li; Xiaomin Lian; Ping Zhang; Yunsong Liu; Yongsheng Zhou
Journal:  Stem Cell Res Ther       Date:  2020-03-25       Impact factor: 6.832

5.  Identification of a likely pathogenic structural variation in the LAMA1 gene by Bionano optical mapping.

Authors:  Min Chen; Min Zhang; Yeqing Qian; Yanmei Yang; Yixi Sun; Bei Liu; Liya Wang; Minyue Dong
Journal:  NPJ Genom Med       Date:  2020-08-12       Impact factor: 8.617

  5 in total

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