Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Gabriella Miller Kids First Pediatric Research Project in Cornelia de Lange Syndrome, Related Diagnosis and Structural Birth Defects

ABSTRACT: Gabriella Miller Kids First Pediatric Research Project in Cornelia de Lange Syndrome, Related Diagnosis and Structural Birth Defects

PROVIDER: PRJNA671182 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Similar Datasets

Gabriella Miller Kids First Pediatric Research Project in Cornelia de Lange Syndrome, Related Diagnosis and Structural Birth Defects

Project description:Gabriella Miller Kids First Pediatric Research Project in Cornelia de Lange Syndrome, Related Diagnosis and Structural Birth Defects

| PRJNA671181 | ENA

Gabriella Miller Kids First - Myeloid Malignancies in Children

Project description:Gabriella Miller Kids First - Myeloid Malignancies in Children

| PRJNA671463 | ENA

Gabriella Miller Kids First - Myeloid Malignancies in Children

Project description:Gabriella Miller Kids First - Myeloid Malignancies in Children

| PRJNA671464 | ENA

Transcriptome comparison between CHOPS syndrome and Cornelia de Lange syndrome

2015-01-27 | GSE64034 | GEO

Gabriella Miller Kids First - Novel Cancer Susceptibility in Families (from BASIC3)

Project description:Gabriella Miller Kids First - Novel Cancer Susceptibility in Families (from BASIC3)

| PRJNA559004 | ENA

Transcriptome comparison between CHOPS syndrome and Cornelia de Lange syndrome

Project description:CHOPS syndrome is caused by germline gain-of-function mutations of AFF4. Cornelia de Lange syndrome is caused by germline mutations of cohesin loading factors or cohesin complex genes such as NIPBL, SMC1A, SMC3 and HDAC8. There are many overlapping clinical features exist between CHOPS syndrome and Cornelia de Lange syndrome. To identified commonly dysregulated genes in CHOPS syndrome and Cornelia de Lange syndrome, we perfomred side-by-side transcriptome comparison between CHOPS syndrome and Cornelia de Lange syndrome. In this transcriptome analysis, patient derived skin fibroblasts from two CHOPS syndrome probands, two Cornelia de Lange syndrome probands, and four age-gender-ethnicity matched healthy control subjects were used.The samples used for Human Gene 2.0 arrays are two CHOPs syndrome samples (CDL160 and CDL444), two Cornelia de Lange syndrome samples (CdL006: 7 year-old Caucasian female NIPBL 742_743delCT ;L248TfsX6 and CdL015: 10 year-old Caucasian male NIPBL 2969delG;G990DfsX2), and four age gender matched control samples (GM01652, GM01864, GM02036 and GM03348).

2015-01-27 | E-GEOD-64034 | biostudies-arrayexpress

Gabriella Miller Kids First Pediatric Research Project in Microtia in Hispanic Populations

Project description:Gabriella Miller Kids First Pediatric Research Project in Microtia in Hispanic Populations

| PRJNA671167 | ENA

Gabriella Miller Kids First Pediatric Research Project in Microtia in Hispanic Populations

Project description:Gabriella Miller Kids First Pediatric Research Project in Microtia in Hispanic Populations

| PRJNA671166 | ENA

Gabriella Miller Kids First Pediatric Research Program in Bladder Exstrophy, Epispadias, Complex (BEEC)

Project description:Gabriella Miller Kids First Pediatric Research Program in Bladder Exstrophy, Epispadias, Complex (BEEC)

| PRJNA671204 | ENA

Gabriella Miller Kids First Pediatric Research Program in Enchondromatoses and Related Malignant Tumors

Project description:Gabriella Miller Kids First Pediatric Research Program in Enchondromatoses and Related Malignant Tumors