Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.

Saved in:
Bibliographic Details
Title: Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.
Authors: Bahena P; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany., Daftarian N; Ocular Tissue Engineering Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Linares P; Universidad Nacional Autónoma de México, Mexico City, Mexico., Villalobos D; Department of Bioinformatics, University of Würzburg, Würzburg, Germany., Mirrahimi M; Ocular Tissue Engineering Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Rad A; Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, 72076, Tübingen, Germany., Doll J; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany., Hofrichter MAH; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany., Koparir A; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany., Röder T; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany., Han S; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany., Sabbaghi H; Ophthalmic Epidemiology Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, No. 23, Paidarfard St., Boostan 9 St., Pasdaran Ave., Tehran, 1666673111, Iran., Ahmadieh H; Ophthalmic Epidemiology Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, No. 23, Paidarfard St., Boostan 9 St., Pasdaran Ave., Tehran, 1666673111, Iran., Behboudi H; Amiralmomenin Hospital, Eye Research Center, Guilan University of Medical Sciences, Rasht, Iran., Villanueva-Mendoza C; Genetics Department, Asociación Para Evitar la Ceguera en México (APEC), Mexico City, Mexico., Cortés-Gonzalez V; Genetics Department, Asociación Para Evitar la Ceguera en México (APEC), Mexico City, Mexico., Zamora-Ortiz R; Ophthalmic Department, Instituto de Seguridad y Servicios sociales de los Trabajadores del Estado, Hospital de Alta Especialidad, Puebla, Mexico., Kohl S; Centre for Ophthalmology, Institute for Ophthalmic Research, Eberhard Karls University Tübingen, Tübingen, Germany., Kuehlewein L; Centre for Ophthalmology, Institute for Ophthalmic Research, Eberhard Karls University Tübingen, Tübingen, Germany.; University Eye Hospital, Centre for Ophthalmology, Eberhard Karls University Tübingen, Tübingen, Germany., Darvish H; Faculty of Medicine, Neuroscience Research Center, Golestan University of Medical Sciences, Gorgan, Iran., Alehabib E; Student Research Committee, Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Arenas-Sordo ML; Department of Genetics, National Institute of Rehabilitation Luis Guillermo Ibarra (INR), Mexico City, Mexico., Suri F; Ophthalmic Epidemiology Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, No. 23, Paidarfard St., Boostan 9 St., Pasdaran Ave., Tehran, 1666673111, Iran. fatemehsuri@gmail.com., Vona B; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany. barbara.vona@uni-tuebingen.de.; Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, 72076, Tübingen, Germany. barbara.vona@uni-tuebingen.de., Haaf T; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany. thomas.haaf@uni-wuerzburg.de.
Source: Human genetics [Hum Genet] 2022 Apr; Vol. 141 (3-4), pp. 785-803. Date of Electronic Publication: 2021 Jun 20.
Publication Type: Journal Article
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 34148116
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Bahena+P%22">Bahena P</searchLink>; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Daftarian+N%22">Daftarian N</searchLink>; Ocular Tissue Engineering Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Maroofian+R%22">Maroofian R</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Linares+P%22">Linares P</searchLink>; Universidad Nacional Autónoma de México, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Villalobos+D%22">Villalobos D</searchLink>; Department of Bioinformatics, University of Würzburg, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Mirrahimi+M%22">Mirrahimi M</searchLink>; Ocular Tissue Engineering Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Rad+A%22">Rad A</searchLink>; Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, 72076, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Doll+J%22">Doll J</searchLink>; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Hofrichter+MAH%22">Hofrichter MAH</searchLink>; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Koparir+A%22">Koparir A</searchLink>; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Röder+T%22">Röder T</searchLink>; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Han+S%22">Han S</searchLink>; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Sabbaghi+H%22">Sabbaghi H</searchLink>; Ophthalmic Epidemiology Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, No. 23, Paidarfard St., Boostan 9 St., Pasdaran Ave., Tehran, 1666673111, Iran.<br /><searchLink fieldCode="AU" term="%22Ahmadieh+H%22">Ahmadieh H</searchLink>; Ophthalmic Epidemiology Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, No. 23, Paidarfard St., Boostan 9 St., Pasdaran Ave., Tehran, 1666673111, Iran.<br /><searchLink fieldCode="AU" term="%22Behboudi+H%22">Behboudi H</searchLink>; Amiralmomenin Hospital, Eye Research Center, Guilan University of Medical Sciences, Rasht, Iran.<br /><searchLink fieldCode="AU" term="%22Villanueva-Mendoza+C%22">Villanueva-Mendoza C</searchLink>; Genetics Department, Asociación Para Evitar la Ceguera en México (APEC), Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Cortés-Gonzalez+V%22">Cortés-Gonzalez V</searchLink>; Genetics Department, Asociación Para Evitar la Ceguera en México (APEC), Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Zamora-Ortiz+R%22">Zamora-Ortiz R</searchLink>; Ophthalmic Department, Instituto de Seguridad y Servicios sociales de los Trabajadores del Estado, Hospital de Alta Especialidad, Puebla, Mexico.<br /><searchLink fieldCode="AU" term="%22Kohl+S%22">Kohl S</searchLink>; Centre for Ophthalmology, Institute for Ophthalmic Research, Eberhard Karls University Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Kuehlewein+L%22">Kuehlewein L</searchLink>; Centre for Ophthalmology, Institute for Ophthalmic Research, Eberhard Karls University Tübingen, Tübingen, Germany.; University Eye Hospital, Centre for Ophthalmology, Eberhard Karls University Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Darvish+H%22">Darvish H</searchLink>; Faculty of Medicine, Neuroscience Research Center, Golestan University of Medical Sciences, Gorgan, Iran.<br /><searchLink fieldCode="AU" term="%22Alehabib+E%22">Alehabib E</searchLink>; Student Research Committee, Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Arenas-Sordo+ML%22">Arenas-Sordo ML</searchLink>; Department of Genetics, National Institute of Rehabilitation Luis Guillermo Ibarra (INR), Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Suri+F%22">Suri F</searchLink>; Ophthalmic Epidemiology Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, No. 23, Paidarfard St., Boostan 9 St., Pasdaran Ave., Tehran, 1666673111, Iran. fatemehsuri@gmail.com.<br /><searchLink fieldCode="AU" term="%22Vona+B%22">Vona B</searchLink>; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany. barbara.vona@uni-tuebingen.de.; Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, 72076, Tübingen, Germany. barbara.vona@uni-tuebingen.de.<br /><searchLink fieldCode="AU" term="%22Haaf+T%22">Haaf T</searchLink>; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany. thomas.haaf@uni-wuerzburg.de.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2022 Apr; Vol. 141 (3-4), pp. 785-803. <i>Date of Electronic Publication: </i>2021 Jun 20.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>7613873 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406717%22">03406717 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=34148116
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1007/s00439-021-02303-1
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 785
    Titles:
      – TitleFull: Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Bahena P
      – PersonEntity:
          Name:
            NameFull: Daftarian N
      – PersonEntity:
          Name:
            NameFull: Maroofian R
      – PersonEntity:
          Name:
            NameFull: Linares P
      – PersonEntity:
          Name:
            NameFull: Villalobos D
      – PersonEntity:
          Name:
            NameFull: Mirrahimi M
      – PersonEntity:
          Name:
            NameFull: Rad A
      – PersonEntity:
          Name:
            NameFull: Doll J
      – PersonEntity:
          Name:
            NameFull: Hofrichter MAH
      – PersonEntity:
          Name:
            NameFull: Koparir A
      – PersonEntity:
          Name:
            NameFull: Röder T
      – PersonEntity:
          Name:
            NameFull: Han S
      – PersonEntity:
          Name:
            NameFull: Sabbaghi H
      – PersonEntity:
          Name:
            NameFull: Ahmadieh H
      – PersonEntity:
          Name:
            NameFull: Behboudi H
      – PersonEntity:
          Name:
            NameFull: Villanueva-Mendoza C
      – PersonEntity:
          Name:
            NameFull: Cortés-Gonzalez V
      – PersonEntity:
          Name:
            NameFull: Zamora-Ortiz R
      – PersonEntity:
          Name:
            NameFull: Kohl S
      – PersonEntity:
          Name:
            NameFull: Kuehlewein L
      – PersonEntity:
          Name:
            NameFull: Darvish H
      – PersonEntity:
          Name:
            NameFull: Alehabib E
      – PersonEntity:
          Name:
            NameFull: Arenas-Sordo ML
      – PersonEntity:
          Name:
            NameFull: Suri F
      – PersonEntity:
          Name:
            NameFull: Vona B
      – PersonEntity:
          Name:
            NameFull: Haaf T
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 04
              Text: 2022 Apr
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-electronic
              Value: 1432-1203
          Numbering:
            – Type: volume
              Value: 141
            – Type: issue
              Value: 3-4
          Titles:
            – TitleFull: Human genetics
              Type: main
ResultId 1