ID

45674

Descripción

Principal Investigator: Michael Talkowski, Massachusetts General Hospital, Boston, MA, USA MeSH: Arhinia, choanal atresia, and microphthalmia,Kallmann Syndrome https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001246 The goal of this project is to determine the genetic etiology of congenital arhinia and Bosma arhinia microphthalmia syndrome through a combination of whole-exome, whole-genome, and targeted sequencing followed by in silico, in vitro, and in vivo functional modeling.

Link

dbGaP study = phs001246

Palabras clave

Versiones (1)
  1. 06.04.23 06.04.23 - Simon Heim
Titular de derechos de autor

Michael Talkowski, Massachusetts General Hospital, Boston, MA, USA

Subido en

6. April 2023

DOI

Para solicitar uno, por favor iniciar sesión.

Licencia

Creative Commons BY 4.0
Comentarios del modelo :

Puede comentar sobre el modelo de datos aquí. A través de las burbujas de diálogo en los grupos de elementos y elementos, puede agregar comentarios específicos.

Volver a los comentarios del modelo
Comentarios de grupo de elementos para :

Comentarios del elemento para :

Para descargar modelos de datos, debe haber iniciado sesión. Por favor iniciar sesión o Registrate gratis.

dbGaP phs001246 Genetics of Arhinia

Inglés

Eligibility Criteria

6 formularios  
Inclusion and exclusion criteria
Descripción

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
Inclusion:
Descripción

Inclusion:

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C1512693
Whole exome sequencing: Patients with arhinia and available family members
Descripción

Whole exome sequencing: Patients with arhinia and available family members

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C3640077
UMLS CUI [1,2]
C0265740
UMLS CUI [1,3]
C0470187
UMLS CUI [1,4]
C0086282
Whole genome sequencing: One multiplex family with arhinia and arhinia sub-phenotypes (anosmia, nasal asymmetry, dental anomalies) Exclusion:
Descripción

Whole genome sequencing: One multiplex family with arhinia and arhinia sub-phenotypes (anosmia, nasal asymmetry, dental anomalies) Exclusion:

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C3640076
UMLS CUI [1,2]
C0015576
UMLS CUI [1,3]
C0265740
UMLS CUI [1,4]
C1515010
UMLS CUI [1,5]
C0031437
UMLS CUI [1,6]
C0003126
UMLS CUI [1,7]
C0332514
UMLS CUI [1,8]
C3553737
UMLS CUI [2,1]
C0680251
None
Descripción

None

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0549184
Volver a la parte superior de la página

Similar models

Eligibility Criteria

6 formularios
Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Inclusion:
Item
Inclusion:
boolean
C1512693 (UMLS CUI [1,1])
Whole exome sequencing: Patients with arhinia and available family members
Item
Whole exome sequencing: Patients with arhinia and available family members
boolean
C3640077 (UMLS CUI [1,1])
C0265740 (UMLS CUI [1,2])
C0470187 (UMLS CUI [1,3])
C0086282 (UMLS CUI [1,4])
Whole genome sequencing: One multiplex family with arhinia and arhinia sub-phenotypes (anosmia, nasal asymmetry, dental anomalies) Exclusion:
Item
Whole genome sequencing: One multiplex family with arhinia and arhinia sub-phenotypes (anosmia, nasal asymmetry, dental anomalies) Exclusion:
boolean
C3640076 (UMLS CUI [1,1])
C0015576 (UMLS CUI [1,2])
C0265740 (UMLS CUI [1,3])
C1515010 (UMLS CUI [1,4])
C0031437 (UMLS CUI [1,5])
C0003126 (UMLS CUI [1,6])
C0332514 (UMLS CUI [1,7])
C3553737 (UMLS CUI [1,8])
C0680251 (UMLS CUI [2,1])
None
Item
None
boolean
C0549184 (UMLS CUI [1,1])
Volver a la parte superior de la página 

Contacto

Utilice este formulario para comentarios, preguntas y sugerencias.

Los campos marcados con * son obligatorios.

Ayuda

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