0 Bedömningar
ID

45306

Beskrivning

Principal Investigator: William Crowley, PhD, Massachusetts General Hospital, Boston, MA, USA MeSH: GnRH,Kallmann Syndrome,Hypogonadism https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000475 The purpose of this study is to discover genetic mutations in patients who have GnRH deficient states. This includes individuals with variant forms of hypogonadotropic hypogonadism, including individuals who have somatic anomalies involving mid-line facial defects, renal agenesis, synkinesia, and ataxia, amongst others.

Länk

dbGaP study = phs000475

Nyckelord

Versioner (1)
  1. 2022-10-19 2022-10-19 - Adrian Schulz
Rättsinnehavare

William Crowley, PhD, Massachusetts General Hospital, Boston, MA, USA

Uppladdad den

19 oktober 2022

DOI

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Licens

Creative Commons BY 4.0
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    dbGaP phs000475 The Molecular Basis of Inherited Reproductive Disorders

    Engelsk

    Eligibility Criteria

    5 Formulär  
    Inclusion and exclusion criteria
    Beskrivning

    Inclusion and exclusion criteria

    Alias
    UMLS CUI [1,1]
    C1512693 (Inclusion)
    UMLS CUI [1,2]
    C0680251 (Exclusion Criteria)
    Participants must undergo and physical and laboratory examination to determine their diagnosis. The diagnosis can be aided by the performance of brain imaging, and smell testing. Patients with GnRH deficiency (partial or complete, congenital or adult onset) and their family members are allowed to participate.
    Beskrivning

    Elig.phs000475.v1.p1.1

    Datatyp

    boolean

    Alias
    UMLS CUI [1,1]
    C3846158 (Other Coding)
    LOINC
    LA4728-7
    Tillbaka till toppen

    Similar models

    Eligibility Criteria

    5 Formulär
    Name
    Typ
    Description | Question | Decode (Coded Value)
    Datatyp
    Alias
    Item Group
    Inclusion and exclusion criteria
    C1512693 (UMLS CUI [1,1])
    C0680251 (UMLS CUI [1,2])
    Elig.phs000475.v1.p1.1
    Item
    Participants must undergo and physical and laboratory examination to determine their diagnosis. The diagnosis can be aided by the performance of brain imaging, and smell testing. Patients with GnRH deficiency (partial or complete, congenital or adult onset) and their family members are allowed to participate.
    boolean
    C3846158 (UMLS CUI [1,1])
    Tillbaka till toppen 

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