ID
45006
Description
Principal Investigator: Eric Lander, Broad Institute, Cambridge, MA, USA MeSH: Congenital Abnormalities,Bardet-Biedl Syndrome,Orofaciodigital Syndromes https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000288 The study is aimed at identifying new genes involved in pediatric brain disorders from inbred families originating predominantly in the Middle East. Each patient analyzed to date has a specific and highly unique neurodevelopmental disorder that is likely to be recessive in nature. Many patients have one of the diseases along the "ciliopathy" spectrum of diseases, with evidence of kidney failure, retinal blindness and cerebellar ataxia.
Lien
https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000288
Mots-clés
Versions (2)
- 04/07/2022 04/07/2022 - Chiara Middel
- 12/10/2022 12/10/2022 - Adrian Schulz
Détendeur de droits
Eric Lander, Broad Institute, Cambridge, MA, USA
Téléchargé le
4 juillet 2022
DOI
Pour une demande vous connecter.
Licence
Creative Commons BY 4.0
Modèle Commentaires :
Ici, vous pouvez faire des commentaires sur le modèle. À partir des bulles de texte, vous pouvez laisser des commentaires spécifiques sur les groupes Item et les Item.
Groupe Item commentaires pour :
Item commentaires pour :
Vous devez être connecté pour pouvoir télécharger des formulaires. Veuillez vous connecter ou s’inscrire gratuitement.
dbGaP phs000288 Ciliopathies Exome Sequencing Initiative
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
- Family ID, subject ID, mother ID, father ID, sex, and twin ID of participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
- Subject ID, sample ID, and sample use variable obtained from participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
- Subject ID, age, gender, and ethnicity of participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
- Sample ID, body site where sample was obtained, analyte type, histological type of sample, and tumor status of samples of participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
- Family ID, subject ID, mother ID, father ID, sex, and twin ID of participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
- Subject ID, sample ID, and sample use variable obtained from participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
- Subject ID, age, gender, and ethnicity of participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
- Sample ID, body site where sample was obtained, analyte type, histological type of sample, and tumor status of samples of participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
C0680251 (UMLS CUI [1,2])
C1517194 (UMLS CUI [1,2])
C1519210 (UMLS CUI [1,3])
C3844700 (UMLS CUI [2,1])
C0086282 (UMLS CUI [2,2])
C0522476 (UMLS CUI [2,3])
C0017337 (UMLS CUI [1,2])
C3899368 (UMLS CUI [1,3])
C2828389 (UMLS CUI [2,1])
C0017337 (UMLS CUI [2,2])
C1708726 (UMLS CUI [2,3])
C1265611 (UMLS CUI [1,2])
C3272453 (UMLS CUI [1,3])
C0332306 (UMLS CUI [1,2])
C0012854 (UMLS CUI [1,3])
C0012854 (UMLS CUI [2,1])
C2349182 (UMLS CUI [2,2])
C0017393 (UMLS CUI [2,3])
C0079399 (UMLS CUI [2,4])
C0012854 (UMLS CUI [3,1])
C2349182 (UMLS CUI [3,2])
C0728826 (UMLS CUI [3,3])
C0796346 (UMLS CUI [3,4])
C0023745 (UMLS CUI [1,2])
C3702387 (UMLS CUI [1,3])