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  2. 2. Documentação de rotina
  3. 3. Estudos de registo/coortes
  4. 4. Garantia da qualidade
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  7. 7. Especialidade médica
    1. 7.1. Anestesia
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      1. Hematologia
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      1. Cardiologia/angiologia
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      1. Endocrinologia/metabolismo
      1. Reumatologia
    1. 7.7. Neurologia
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    1. 7.16. Odontologia/cirurgia bucomaxilofacial
Modelos de datos seleccionados

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2 Resultados de la búsqueda.
Relevancia Evaluación Nuevo primero Antiguo primero

dbGaP phs001373 Mechanisms Controlling Gene Expression of Human Microglia - Eligibility

- 09/02/2023 - 5 formularios, 1 itemgroup, 8 items, 1 idioma
Itemgroup: IG.elig
Principal Investigator: Christopher K. Glass, MD, PhD, University of California, San Diego, CA, USA MeSH: Epilepsy,Brain Neoplasms,Hypoxia-Ischemia, Brain https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001373 These studies map the epigenetic landscape of microglia, neurons, astrocytes and oligodendrocytes. The initial study compared acutely isolated microglia to cultured microglia from the same donors, to identify changes that occur when microglia are removed from the brain microenvironment. In collaboration with the Rady Children's hospital, we obtained brain tissue samples from pediatric patients representing putative normal tissue resected to gain access to brain tumors as well as tissue resected to remove epileptic foci. We assayed microglia isolated from these samples using RNA-seq, ATAC-seq and ChIP-seq for PU.1, H3K4me2, and H3K27ac. For patients from whom a sufficient cell number was obtained, we additionally cultured their microglia for up to 7 days and subjected these to the same suite of assays. In a follow-up study, we obtained brain tissue from a comparable cohort of pediatric epilepsy patients from Rady Children's hospital. We isolated nuclei from microglia, neurons, astrocytes and oligodendrocytes, and assayed for ATAC-seq, ChIP-seq for H3K4me3, and H3K27ac, and PLAC-seq (Proximity Ligated ChIP-seq).

pht006701.v2.p2

1 itemgroup 2 items

pht006702.v2.p2

1 itemgroup 2 items

pht006703.v2.p2

1 itemgroup 6 items

pht006704.v2.p2

1 itemgroup 11 items

dbGaP phs000495 The Gene Partnership (TGP) - eMERGE Data - Eligibility

- 13/12/2022 - 5 formularios, 1 itemgroup, 7 items, 1 idioma
Itemgroup: IG.elig
Principal Investigator: Isaac S. Kohane, MD, PhD, Boston Children's Hospital, Boston, MA, USA MeSH: Autistic Disorder,Heart Defects, Congenital,Asthma,Attention Deficit Disorders,Diabetes Mellitus, Type 1,Diabetes Mellitus, Type 2,Epilepsy,Gastrointestinal Diseases,Hypersensitivity,Autoimmune Diseases,Hematologic Diseases,Neoplasms,Arrhythmias, Cardiac,Chromosome Aberrations,Congenital Abnormalities,Dermatology,Developmental Disabilities,Endocrine System,Otolaryngology,Syndrome,Urogenital System,Hearing Loss,Immune System Diseases,Musculoskeletal Abnormalities,Nervous System Diseases,Neuromuscular Diseases,Metabolic Diseases,Nutrition Disorders,Vision Disorders,Mouth Diseases,Mental Disorders,Kidney Diseases,Respiration Disorders,Thyroid Diseases,Vascular Diseases https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000495 The Gene Partnership (TGP) is a prospective longitudinal registry at Boston Children's Hospital (BCH) to study the genetic and environmental contributions to childhood health and disease, collect genetic information on a large number of children who have been phenotyped, and implement the Informed Cohort and the Informed Cohort Oversight Board (ICOB). The term "*The Gene Partnership*" reflects a partnership between researchers and participants. Children seen at BCH are offered enrollment, as are their parents and siblings. DNA is collected on all enrollees. BCH has a comprehensive EMR system, and virtually all inpatient and outpatient data are captured electronically. Clinical data in the BCH EMR is loaded in the i2b2 data warehouse which is available to investigators. Cases, phenotypes, and covariates are ascertained using the i2b2 database. Participants at BCH in TGP have consented to receive any research result and/or incidental finding that arises from studies using TGP that is approved by the Informed Cohort Oversight Board (ICOB) and is in accordance with the participants' preferences; results are returned through the Personally Controlled Health Record (PCHR). BCH and Cincinnati Children's Hospital Medical Center (CCHMC) have partnered as the *P*ediatric *A*lliance for *G*enomic and *E*lectronic Medical Record (EMR) *R*esearch (*PAGER*) site for the eMERGE Phase II network for pediatric institutions, and the cohort for eMERGE at BCH is TGP.

pht002864.v1.p1

1 itemgroup 4 items

pht002865.v1.p1

1 itemgroup 5 items

pht002866.v1.p1

1 itemgroup 42 items

pht002867.v1.p1

1 itemgroup 4 items

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