ID

45467

Descrizione

Principal Investigator: Gail Jarvik, MD, PhD, University of Washington, Seattle, WA, USA MeSH: Hyperlipidemia, Familial Combined https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000538 The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases. The research study procedures included the collection of a fasting blood sample, 2 medical history/life style questionnaires and a measurement of subjects' waist circumference that were completed many years ago. Blood samples were analyzed for metabolic markers including cholesterol, HDL, triglycerides and APOE. Genetic tests targeted known and novel genes and polymorphisms associated with carotid artery disease.

collegamento

dbGap study = phs000538

Keywords

  1. 07/11/22 07/11/22 - Simon Heim
  2. 13/12/22 13/12/22 - Kristina Keller
Titolare del copyright

Gail Jarvik, MD, PhD, University of Washington, Seattle, WA, USA

Caricato su

13 dicembre 2022

DOI

Per favore, per richiedere un accesso.

Licenza

Creative Commons BY 4.0

Commenti del modello :

Puoi commentare il modello dati qui. Tramite i fumetti nei gruppi di articoli e articoli è possibile aggiungere commenti a quelli in modo specifico.

Commenti del gruppo di articoli per :

Commenti dell'articolo per :

Per scaricare i modelli di dati devi essere registrato. Per favore accesso o registrati GRATIS.

dbGaP phs000538 Next Generation Mendelian Genetics: Familial Combined Hyperlipidemia

Eligibility Criteria

Inclusion and exclusion criteria
Descrizione

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
Elevated metabolic lipoprotein values
Descrizione

Elevated metabolic lipoprotein values

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C3163633
UMLS CUI [1,2]
C0023820
Family member with elevated metabolic lipoprotein values
Descrizione

Family member with elevated metabolic lipoprotein values

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0086282
UMLS CUI [1,2]
C3163633
UMLS CUI [1,3]
C0023820
Personal or family history of cardiovascular disease
Descrizione

Personal or family history of cardiovascular disease

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0455539
UMLS CUI [1,2]
C0241889
UMLS CUI [1,3]
C0007222

Similar models

Eligibility Criteria

Name
genere
Description | Question | Decode (Coded Value)
Tipo di dati
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elevated metabolic lipoprotein values
Item
Elevated metabolic lipoprotein values
boolean
C3163633 (UMLS CUI [1,1])
C0023820 (UMLS CUI [1,2])
Family member with elevated metabolic lipoprotein values
Item
Family member with elevated metabolic lipoprotein values
boolean
C0086282 (UMLS CUI [1,1])
C3163633 (UMLS CUI [1,2])
C0023820 (UMLS CUI [1,3])
Personal or family history of cardiovascular disease
Item
Personal or family history of cardiovascular disease
boolean
C0455539 (UMLS CUI [1,1])
C0241889 (UMLS CUI [1,2])
C0007222 (UMLS CUI [1,3])

Si prega di utilizzare questo modulo per feedback, domande e suggerimenti per miglioramenti.

I campi contrassegnati da * sono obbligatori.

Do you need help on how to use the search function? Please watch the corresponding tutorial video for more details and learn how to use the search function most efficiently.

Watch Tutorial