Literature DB >> 5312820

Congenital corneal dystrophy. Progressive sensorineural deafness in a family.

G Harboyan, J Mamo, F Karam.   

Abstract

Entities:  

Mesh：

Year:  1971        PMID： 5312820     DOI： 10.1001/archopht.1971.00990050029005

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


× No keyword cloud information.
  9 in total

1.  Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.

Authors:  Julie Desir; Graciela Moya; Orit Reish; Nicole Van Regemorter; Hilde Deconinck; Karen L David; Françoise M Meire; Marc J Abramowicz
Journal:  J Med Genet       Date:  2007-01-12       Impact factor: 6.318

2.  SLC4A11 prevents osmotic imbalance leading to corneal endothelial dystrophy, deafness, and polyuria.

Authors:  Nicole Gröger; Henning Fröhlich; Hannes Maier; Andrea Olbrich; Sawa Kostin; Thomas Braun; Thomas Boettger
Journal:  J Biol Chem       Date:  2010-02-25       Impact factor: 5.157

3.  SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families.

Authors:  Sabika Firasat; Wajid Ali Khan; Ume Sughra; Haiba Kaul; Shagufta Naz; Bushra Noreen; Rutaba Gul; Kiran Afshan
Journal:  Mol Biol Rep       Date:  2021-10-12       Impact factor: 2.316

4.  Immuno-electron labelling of matrix components in congenital hereditary endothelial dystrophy.

Authors:  W Sekundo; G E Marshall; W R Lee; C M Kirkness
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1994-06       Impact factor: 3.117

5.  Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation.

Authors:  Napaporn Tananuvat; Rak Tananuvat; Wattana Chartapisak; Pongsak Mahanupab; Chananya Hokierti; Metawee Srikummool; Jatupol Kampuansai; Worrachet Intachai; Bjorn Olsen; James R Ketudat Cairns; Piranit Kantaputra
Journal:  J Hum Genet       Date:  2020-09-03       Impact factor: 3.172

6.  Rehabilitation with cochlear implant in patient with harboyan syndrome.

Authors:  Lauren Medeiros Paniagua; Maria Elza Kazumi Yamaguti Dorfman; Luiz Lavinsky; Pricila Sleifer
Journal:  Int Arch Otorhinolaryngol       Date:  2013-10

7.  Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.

Authors:  Emmanuelle Souzeau; Owen M Siggs; Sean Mullany; Joshua M Schmidt; Mark M Hassall; Andrew Dubowsky; Angela Chappell; James Breen; Haae Bae; Jillian Nicholl; Johanna Hadler; Lisa S Kearns; Sandra E Staffieri; Alex W Hewitt; David A Mackey; Aanchal Gupta; Kathryn P Burdon; Sonja Klebe; Jamie E Craig; Richard A Mills
Journal:  Mol Genet Genomic Med       Date:  2022-08-19       Impact factor: 2.473

Review 8.  Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome).

Authors:  Julie Desir; Marc Abramowicz
Journal:  Orphanet J Rare Dis       Date:  2008-10-15       Impact factor: 4.123

Review 9.  Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature.

Authors:  Srinivas Gopinath Kodaganur; Saketh Kapoor; Avinash M Veerappa; Sagar Jagannath Tontanahal; Astha Sarda; S Yathish; D Ravi Prakash; Arun Kumar
Journal:  Mol Vis       Date:  2013-08-02       Impact factor: 2.367
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.