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CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism

Turan, Ihsan; Hutchins, B. Ian; Hacihamdioglu, Bulent; Kotan, L. Damla; Gurbuz, Fatih; Ulubay, Ayca; Mengen, Eda; Yuksel, Bilgin; Wray, Susan; Topaloglu, A. Kemal


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  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/46747</identifier>
  <creators>
    <creator>
      <creatorName>Turan, Ihsan</creatorName>
      <givenName>Ihsan</givenName>
      <familyName>Turan</familyName>
      <affiliation>Cukurova Univ, Fac Med, Div Pediat Endocrinol, TR-01330 Adana, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Hutchins, B. Ian</creatorName>
      <givenName>B. Ian</givenName>
      <familyName>Hutchins</familyName>
      <affiliation>NINDS, Cellular &amp; Dev Neurobiol Sect, NIH, Bethesda, MD 20892 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Hacihamdioglu, Bulent</creatorName>
      <givenName>Bulent</givenName>
      <familyName>Hacihamdioglu</familyName>
      <affiliation>Haydarpasa Training Hosp, Gulhane Mil Med Acad, Dept Pediat, TR-34668 Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Kotan, L. Damla</creatorName>
      <givenName>L. Damla</givenName>
      <familyName>Kotan</familyName>
      <affiliation>Cukurova Univ, Fac Med, Div Pediat Endocrinol, TR-01330 Adana, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Gurbuz, Fatih</creatorName>
      <givenName>Fatih</givenName>
      <familyName>Gurbuz</familyName>
      <affiliation>Cukurova Univ, Fac Med, Div Pediat Endocrinol, TR-01330 Adana, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Ulubay, Ayca</creatorName>
      <givenName>Ayca</givenName>
      <familyName>Ulubay</familyName>
      <affiliation>Cukurova Univ, Fac Med, Dept Forens Med, TR-01330 Adana, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Mengen, Eda</creatorName>
      <givenName>Eda</givenName>
      <familyName>Mengen</familyName>
      <affiliation>Cukurova Univ, Fac Med, Div Pediat Endocrinol, TR-01330 Adana, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Yuksel, Bilgin</creatorName>
      <givenName>Bilgin</givenName>
      <familyName>Yuksel</familyName>
      <affiliation>Cukurova Univ, Fac Med, Div Pediat Endocrinol, TR-01330 Adana, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Wray, Susan</creatorName>
      <givenName>Susan</givenName>
      <familyName>Wray</familyName>
      <affiliation>NINDS, Cellular &amp; Dev Neurobiol Sect, NIH, Bethesda, MD 20892 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Topaloglu, A. Kemal</creatorName>
      <givenName>A. Kemal</givenName>
      <familyName>Topaloglu</familyName>
    </creator>
  </creators>
  <titles>
    <title>Ccdc141 Mutations In Idiopathic Hypogonadotropic Hypogonadism</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2017</publicationYear>
  <dates>
    <date dateType="Issued">2017-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/46747</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1210/jc.2016-3391</relatedIdentifier>
  </relatedIdentifiers>
  <rightsList>
    <rights rightsURI="http://www.opendefinition.org/licenses/cc-by">Creative Commons Attribution</rights>
    <rights rightsURI="info:eu-repo/semantics/openAccess">Open Access</rights>
  </rightsList>
  <descriptions>
    <description descriptionType="Abstract">Context: Gonadotropin-releasing hormone neurons originate outside the central nervous systemin the olfactory placode and migrate into the central nervous system, becoming integral components of the hypothalamic-pituitary-gonadal axis. Failure of this migration can lead to idiopathic hypogonadotropic hypogonadism (IHH)/Kallmann syndrome (KS). We have previously shown that CCDC141 knockdown leads to impaired migration of GnRH neurons but not of olfactory receptor neurons.</description>
  </descriptions>
</resource>
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