View in EDS HTML Full Text PDF Full Text

The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.

Saved in:
Bibliographic Details
Title: The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Authors: Colbert BM; Department of Otolaryngology, University of Miami Miller School of Medicine, 1120 NW 14th Street, 5th Floor, Miami, FL, 33136, USA.; Medical Scientist Training Program, University of Miami Miller School of Medicine, Miami, USA.; Dr. John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, USA., Lanting C; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands., Smeal M; Department of Otolaryngology, University of Miami Miller School of Medicine, 1120 NW 14th Street, 5th Floor, Miami, FL, 33136, USA., Blanton S; Department of Otolaryngology, University of Miami Miller School of Medicine, 1120 NW 14th Street, 5th Floor, Miami, FL, 33136, USA.; Dr. John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, USA., Dykxhoorn DM; Dr. John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, USA., Tang PC; Department of Otolaryngology, University of Miami Miller School of Medicine, 1120 NW 14th Street, 5th Floor, Miami, FL, 33136, USA., Getchell RL; Dr. John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, USA., Velde H; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands., Fehrmann M; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands., Thorpe R; Department of Otolaryngology, University of Iowa, Iowa City, USA., Chapagain P; Department of Physics and Biomolecular Sciences Institute, Florida International University, Miami, USA., Elkhaligy H; Department of Physics and Biomolecular Sciences Institute, Florida International University, Miami, USA., Kremer H; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands., Yntema H; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands., Haer-Wigman L; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands., Redfield S; Boston Children's Hospital, Boston, USA., Sun T; Boston Children's Hospital, Boston, USA., Bruijn S; Amsterdam University Medical Center, Amsterdam, The Netherlands., Plomp A; Amsterdam University Medical Center, Amsterdam, The Netherlands., Goderie T; Amsterdam University Medical Center, Amsterdam, The Netherlands., van de Kamp J; Amsterdam University Medical Center, Amsterdam, The Netherlands., Free RH; Groningen University Medical Center, Groningen, The Netherlands., Wassink-Ruiter JK; Groningen University Medical Center, Groningen, The Netherlands., Widdershoven J; Maastricht University Medical Center, Maastricht, The Netherlands., Vanhoutte E; Maastricht University Medical Center, Maastricht, The Netherlands., Rotteveel L; Leiden University Medical Center, Leiden, The Netherlands., Kriek M; Leiden University Medical Center, Leiden, The Netherlands., van Dooren M; Erasmus Medical Center, Rotterdam, The Netherlands., Hoefsloot L; Erasmus Medical Center, Rotterdam, The Netherlands., de Gier HHW; Erasmus Medical Center, Rotterdam, The Netherlands., Schaefer A; Department of Otolaryngology, University of Iowa, Iowa City, USA., Kolbe D; Department of Otolaryngology, University of Iowa, Iowa City, USA., Azaiez H; Department of Otolaryngology, University of Iowa, Iowa City, USA., Rabie G; Hereditary Research Laboratory and Department of Life Sciences, Bethlehem University, Bethlehem, Palestine., Aburayyan A; University of Washington, Seattle, USA., Kawas M; Hereditary Research Laboratory and Department of Life Sciences, Bethlehem University, Bethlehem, Palestine., Kanaan M; Hereditary Research Laboratory and Department of Life Sciences, Bethlehem University, Bethlehem, Palestine., Holder J; Vanderbilt University, Nashville, USA., Usami SI; Shinshu University School of Medicine, Matsumoto, Japan., Chen Z; Eaton-Peabody Laboratory, Massachusetts Eye and Ear Infirmary and Department of Otolaryngology-Head and Neck Surgery, Harvard Medical School, Boston, USA., Dai P; PLA General Hospital, Beijing, China., Holt J; Boston Children's Hospital, Boston, USA., Nelson R; Department of Otolaryngology, Indiana University School of Medicine, Indianapolis, USA., Choi BY; Seoul National University Bundang Hospital, Seongnam, South Korea., Shearer E; Boston Children's Hospital, Boston, USA., Smith RJH; Department of Otolaryngology, University of Iowa, Iowa City, USA., Pennings R; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands., Liu XZ; Department of Otolaryngology, University of Miami Miller School of Medicine, 1120 NW 14th Street, 5th Floor, Miami, FL, 33136, USA. xliu@med.miami.edu.; Dr. John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, USA. xliu@med.miami.edu.
Corporate Authors: DOOFNL Consortium
Source: Human genetics [Hum Genet] 2024 May; Vol. 143 (5), pp. 721-734. Date of Electronic Publication: 2024 Apr 30.
Publication Type: Journal Article; Multicenter Study
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: 38691166
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Colbert+BM%22">Colbert BM</searchLink>; Department of Otolaryngology, University of Miami Miller School of Medicine, 1120 NW 14th Street, 5th Floor, Miami, FL, 33136, USA.; Medical Scientist Training Program, University of Miami Miller School of Medicine, Miami, USA.; Dr. John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, USA.<br /><searchLink fieldCode="AU" term="%22Lanting+C%22">Lanting C</searchLink>; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Smeal+M%22">Smeal M</searchLink>; Department of Otolaryngology, University of Miami Miller School of Medicine, 1120 NW 14th Street, 5th Floor, Miami, FL, 33136, USA.<br /><searchLink fieldCode="AU" term="%22Blanton+S%22">Blanton S</searchLink>; Department of Otolaryngology, University of Miami Miller School of Medicine, 1120 NW 14th Street, 5th Floor, Miami, FL, 33136, USA.; Dr. John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, USA.<br /><searchLink fieldCode="AU" term="%22Dykxhoorn+DM%22">Dykxhoorn DM</searchLink>; Dr. John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, USA.<br /><searchLink fieldCode="AU" term="%22Tang+PC%22">Tang PC</searchLink>; Department of Otolaryngology, University of Miami Miller School of Medicine, 1120 NW 14th Street, 5th Floor, Miami, FL, 33136, USA.<br /><searchLink fieldCode="AU" term="%22Getchell+RL%22">Getchell RL</searchLink>; Dr. John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, USA.<br /><searchLink fieldCode="AU" term="%22Velde+H%22">Velde H</searchLink>; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Fehrmann+M%22">Fehrmann M</searchLink>; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Thorpe+R%22">Thorpe R</searchLink>; Department of Otolaryngology, University of Iowa, Iowa City, USA.<br /><searchLink fieldCode="AU" term="%22Chapagain+P%22">Chapagain P</searchLink>; Department of Physics and Biomolecular Sciences Institute, Florida International University, Miami, USA.<br /><searchLink fieldCode="AU" term="%22Elkhaligy+H%22">Elkhaligy H</searchLink>; Department of Physics and Biomolecular Sciences Institute, Florida International University, Miami, USA.<br /><searchLink fieldCode="AU" term="%22Kremer+H%22">Kremer H</searchLink>; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Yntema+H%22">Yntema H</searchLink>; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Haer-Wigman+L%22">Haer-Wigman L</searchLink>; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Redfield+S%22">Redfield S</searchLink>; Boston Children's Hospital, Boston, USA.<br /><searchLink fieldCode="AU" term="%22Sun+T%22">Sun T</searchLink>; Boston Children's Hospital, Boston, USA.<br /><searchLink fieldCode="AU" term="%22Bruijn+S%22">Bruijn S</searchLink>; Amsterdam University Medical Center, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Plomp+A%22">Plomp A</searchLink>; Amsterdam University Medical Center, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Goderie+T%22">Goderie T</searchLink>; Amsterdam University Medical Center, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+de+Kamp+J%22">van de Kamp J</searchLink>; Amsterdam University Medical Center, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Free+RH%22">Free RH</searchLink>; Groningen University Medical Center, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Wassink-Ruiter+JK%22">Wassink-Ruiter JK</searchLink>; Groningen University Medical Center, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Widdershoven+J%22">Widdershoven J</searchLink>; Maastricht University Medical Center, Maastricht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Vanhoutte+E%22">Vanhoutte E</searchLink>; Maastricht University Medical Center, Maastricht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Rotteveel+L%22">Rotteveel L</searchLink>; Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kriek+M%22">Kriek M</searchLink>; Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Dooren+M%22">van Dooren M</searchLink>; Erasmus Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Hoefsloot+L%22">Hoefsloot L</searchLink>; Erasmus Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Gier+HHW%22">de Gier HHW</searchLink>; Erasmus Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Schaefer+A%22">Schaefer A</searchLink>; Department of Otolaryngology, University of Iowa, Iowa City, USA.<br /><searchLink fieldCode="AU" term="%22Kolbe+D%22">Kolbe D</searchLink>; Department of Otolaryngology, University of Iowa, Iowa City, USA.<br /><searchLink fieldCode="AU" term="%22Azaiez+H%22">Azaiez H</searchLink>; Department of Otolaryngology, University of Iowa, Iowa City, USA.<br /><searchLink fieldCode="AU" term="%22Rabie+G%22">Rabie G</searchLink>; Hereditary Research Laboratory and Department of Life Sciences, Bethlehem University, Bethlehem, Palestine.<br /><searchLink fieldCode="AU" term="%22Aburayyan+A%22">Aburayyan A</searchLink>; University of Washington, Seattle, USA.<br /><searchLink fieldCode="AU" term="%22Kawas+M%22">Kawas M</searchLink>; Hereditary Research Laboratory and Department of Life Sciences, Bethlehem University, Bethlehem, Palestine.<br /><searchLink fieldCode="AU" term="%22Kanaan+M%22">Kanaan M</searchLink>; Hereditary Research Laboratory and Department of Life Sciences, Bethlehem University, Bethlehem, Palestine.<br /><searchLink fieldCode="AU" term="%22Holder+J%22">Holder J</searchLink>; Vanderbilt University, Nashville, USA.<br /><searchLink fieldCode="AU" term="%22Usami+SI%22">Usami SI</searchLink>; Shinshu University School of Medicine, Matsumoto, Japan.<br /><searchLink fieldCode="AU" term="%22Chen+Z%22">Chen Z</searchLink>; Eaton-Peabody Laboratory, Massachusetts Eye and Ear Infirmary and Department of Otolaryngology-Head and Neck Surgery, Harvard Medical School, Boston, USA.<br /><searchLink fieldCode="AU" term="%22Dai+P%22">Dai P</searchLink>; PLA General Hospital, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Holt+J%22">Holt J</searchLink>; Boston Children's Hospital, Boston, USA.<br /><searchLink fieldCode="AU" term="%22Nelson+R%22">Nelson R</searchLink>; Department of Otolaryngology, Indiana University School of Medicine, Indianapolis, USA.<br /><searchLink fieldCode="AU" term="%22Choi+BY%22">Choi BY</searchLink>; Seoul National University Bundang Hospital, Seongnam, South Korea.<br /><searchLink fieldCode="AU" term="%22Shearer+E%22">Shearer E</searchLink>; Boston Children's Hospital, Boston, USA.<br /><searchLink fieldCode="AU" term="%22Smith+RJH%22">Smith RJH</searchLink>; Department of Otolaryngology, University of Iowa, Iowa City, USA.<br /><searchLink fieldCode="AU" term="%22Pennings+R%22">Pennings R</searchLink>; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Liu+XZ%22">Liu XZ</searchLink>; Department of Otolaryngology, University of Miami Miller School of Medicine, 1120 NW 14th Street, 5th Floor, Miami, FL, 33136, USA. xliu@med.miami.edu.; Dr. John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, USA. xliu@med.miami.edu.
– Name: AuthorCorporate
  Label: Corporate Authors
  Group: Au
  Data: <searchLink fieldCode="CA" term="%22DOOFNL+Consortium%22">DOOFNL Consortium</searchLink>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2024 May; Vol. 143 (5), pp. 721-734. <i>Date of Electronic Publication: </i>2024 Apr 30.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Multicenter Study
– 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=38691166
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1007/s00439-024-02648-3
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 721
    Titles:
      – TitleFull: The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Colbert BM
      – PersonEntity:
          Name:
            NameFull: Lanting C
      – PersonEntity:
          Name:
            NameFull: Smeal M
      – PersonEntity:
          Name:
            NameFull: Blanton S
      – PersonEntity:
          Name:
            NameFull: Dykxhoorn DM
      – PersonEntity:
          Name:
            NameFull: Tang PC
      – PersonEntity:
          Name:
            NameFull: Getchell RL
      – PersonEntity:
          Name:
            NameFull: Velde H
      – PersonEntity:
          Name:
            NameFull: Fehrmann M
      – PersonEntity:
          Name:
            NameFull: Thorpe R
      – PersonEntity:
          Name:
            NameFull: Chapagain P
      – PersonEntity:
          Name:
            NameFull: Elkhaligy H
      – PersonEntity:
          Name:
            NameFull: Kremer H
      – PersonEntity:
          Name:
            NameFull: Yntema H
      – PersonEntity:
          Name:
            NameFull: Haer-Wigman L
      – PersonEntity:
          Name:
            NameFull: Redfield S
      – PersonEntity:
          Name:
            NameFull: Sun T
      – PersonEntity:
          Name:
            NameFull: Bruijn S
      – PersonEntity:
          Name:
            NameFull: Plomp A
      – PersonEntity:
          Name:
            NameFull: Goderie T
      – PersonEntity:
          Name:
            NameFull: van de Kamp J
      – PersonEntity:
          Name:
            NameFull: Free RH
      – PersonEntity:
          Name:
            NameFull: Wassink-Ruiter JK
      – PersonEntity:
          Name:
            NameFull: Widdershoven J
      – PersonEntity:
          Name:
            NameFull: Vanhoutte E
      – PersonEntity:
          Name:
            NameFull: Rotteveel L
      – PersonEntity:
          Name:
            NameFull: Kriek M
      – PersonEntity:
          Name:
            NameFull: van Dooren M
      – PersonEntity:
          Name:
            NameFull: Hoefsloot L
      – PersonEntity:
          Name:
            NameFull: de Gier HHW
      – PersonEntity:
          Name:
            NameFull: Schaefer A
      – PersonEntity:
          Name:
            NameFull: Kolbe D
      – PersonEntity:
          Name:
            NameFull: Azaiez H
      – PersonEntity:
          Name:
            NameFull: Rabie G
      – PersonEntity:
          Name:
            NameFull: Aburayyan A
      – PersonEntity:
          Name:
            NameFull: Kawas M
      – PersonEntity:
          Name:
            NameFull: Kanaan M
      – PersonEntity:
          Name:
            NameFull: Holder J
      – PersonEntity:
          Name:
            NameFull: Usami SI
      – PersonEntity:
          Name:
            NameFull: Chen Z
      – PersonEntity:
          Name:
            NameFull: Dai P
      – PersonEntity:
          Name:
            NameFull: Holt J
      – PersonEntity:
          Name:
            NameFull: Nelson R
      – PersonEntity:
          Name:
            NameFull: Choi BY
      – PersonEntity:
          Name:
            NameFull: Shearer E
      – PersonEntity:
          Name:
            NameFull: Smith RJH
      – PersonEntity:
          Name:
            NameFull: Pennings R
      – PersonEntity:
          Name:
            NameFull: Liu XZ
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 05
              Text: 2024 May
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 1432-1203
          Numbering:
            – Type: volume
              Value: 143
            – Type: issue
              Value: 5
          Titles:
            – TitleFull: Human genetics
              Type: main
ResultId 1