525 results for "retinitis+pigmentosa+2017+surgery+blog+"my+twin+died+at+birth""

in 32.07 milliseconds.

• PAGE2 Dataset Nov 2017 (Ref: PAGE2 GIM 2018)

  PAGE2 Dataset Nov 2017 (Ref: PAGE2 GIM 2018)

  Dataset EGAD00001004842

• PAGE2 Dataset Nov 2017 (Ref: PAGE2 GIM 2018)

  PAGE2 Dataset Nov 2017 (Ref: PAGE2 GIM 2018)

  Dataset EGAD00001004844

• REL-2017-07-1273

  HipSci - Monogenic Diabetes - Genotyping Array - July 2017

  Dataset EGAD00010001334

• REL-2017-07-2005

  HipSci - Hereditary Cerebellar Ataxias - Genotyping Array - July 2017

  Dataset EGAD00010001344

• REL-2017-07-2006

  HipSci - Hereditary Spastic Paraplegia - Genotyping Array - July 2017

  Dataset EGAD00010001346

• REL-2017-07-2012

  HipSci - Primary Immune Deficiency - Genotyping Array - July 2017

  Dataset EGAD00010001358

• REL-2017-07-1272

  HipSci - Bardet-Biedl Syndrome - Genotyping Array - July 2017

  Dataset EGAD00010001332

• REL-2017-07-2013

  HipSci - Bleeding and Platelet Disorders - Genotyping Array - July 2017

  Dataset EGAD00010001360

• REL-2017-07_866

  HipSci - Healthy Normals - Genotyping Array - July 2017

  Dataset EGAD00010001328

• HipSci - Congenital Hyperinsulinia - RNA Sequencing - July 2017

  HipSci - Congenital Hyperinsulinia - RNA Sequencing - July 2017

  Dataset EGAD00001003534

• HipSci - Congenital Hyperinsulinia - Exome Sequencing - July 2017

  HipSci - Congenital Hyperinsulinia - Exome Sequencing - July 2017

  Dataset EGAD00001003520

• HipSci - Usher Syndrome - Exome Sequencing - July 2017

  HipSci - Usher Syndrome - Exome Sequencing - July 2017

  Dataset EGAD00001003528

• HipSci - Hypertrophic Cardiomyopathy - Exome Sequencing - July 2017

  HipSci - Hypertrophic Cardiomyopathy - Exome Sequencing - July 2017

  Dataset EGAD00001003523

• HipSci - Battens Disease - Exome Sequencing - July 2017

  HipSci - Battens Disease - Exome Sequencing - July 2017

  Dataset EGAD00001003518

• HipSci - Kabuki Syndrome - Exome Sequencing - July 2017

  HipSci - Kabuki Syndrome - Exome Sequencing - July 2017

  Dataset EGAD00001003524

• HipSci - Battens Disease - RNA Sequencing - July 2017

  HipSci - Battens Disease - RNA Sequencing - July 2017

  Dataset EGAD00001003533

• HipSci - Hypertrophic Cardiomyopathy - RNA Sequencing - July 2017

  HipSci - Hypertrophic Cardiomyopathy - RNA Sequencing - July 2017

  Dataset EGAD00001003540

• HipSci - Macular Dystrophy - RNA Sequencing - July 2017

  HipSci - Macular Dystrophy - RNA Sequencing - July 2017

  Dataset EGAD00001003541

• HipSci - Usher Syndrome - RNA Sequencing - July 2017

  HipSci - Usher Syndrome - RNA Sequencing - July 2017

  Dataset EGAD00001003543

• HipSci - Kabuki Syndrome - RNA Sequencing - July 2017

  HipSci - Kabuki Syndrome - RNA Sequencing - July 2017

  Dataset EGAD00001003535

• HipSci - Alport Syndrome - Exome Sequencing - July 2017

  HipSci - Alport Syndrome - Exome Sequencing - July 2017

  Dataset EGAD00001003517

• HipSci - Alport Syndrome - RNA Sequencing - July 2017

  HipSci - Alport Syndrome - RNA Sequencing - July 2017

  Dataset EGAD00001003532

• HipSci - Macular Dystrophy - Exome Sequencing - July 2017

  HipSci - Macular Dystrophy - Exome Sequencing - July 2017

  Dataset EGAD00001003525

• HipSci - Hereditary Cerebellar Ataxias - Exome Sequencing - July 2017

  HipSci - Hereditary Cerebellar Ataxias - Exome Sequencing - July 2017

  Dataset EGAD00001003521

• HipSci - Primary Immune Deficiency - Exome Sequencing - July 2017

  HipSci - Primary Immune Deficiency - Exome Sequencing - July 2017

  Dataset EGAD00001003526

• HipSci - Primary Immune Deficiency - RNA Sequencing - July 2017

  HipSci - Primary Immune Deficiency - RNA Sequencing - July 2017

  Dataset EGAD00001003536

• HipSci - Hereditary Spastic Paraplegia - RNA Sequencing - July 2017

  HipSci - Hereditary Spastic Paraplegia - RNA Sequencing - July 2017

  Dataset EGAD00001003537

• HipSci - Hereditary Cerebellar Ataxias - RNA Sequencing - July 2017

  HipSci - Hereditary Cerebellar Ataxias - RNA Sequencing - July 2017

  Dataset EGAD00001003538

• HipSci - Hereditary Spastic Paraplegia - Exome Sequencing - July 2017

  HipSci - Hereditary Spastic Paraplegia - Exome Sequencing - July 2017

  Dataset EGAD00001003522

• HipSci - Monogenic Diabetes - Exome Sequencing - July 2017

  HipSci - Monogenic Diabetes - Exome Sequencing - July 2017

  Dataset EGAD00001003516

• HipSci - Monogenic Diabetes - RNA Sequencing - July 2017

  HipSci - Monogenic Diabetes - RNA Sequencing - July 2017

  Dataset EGAD00001003530

• HipSci - Bleeding and Platelet Disorders - RNA Sequencing - July 2017

  HipSci - Bleeding and Platelet Disorders - RNA Sequencing - July 2017

  Dataset EGAD00001003539

• HipSci - Bleeding and Platelet Disorders - Exome Sequencing - July 2017

  HipSci - Bleeding and Platelet Disorders - Exome Sequencing - July 2017

  Dataset EGAD00001003519

• HipSci - Bardet-Biedl Syndrome - Exome Sequencing - July 2017

  HipSci - Bardet-Biedl Syndrome - Exome Sequencing - July 2017

  Dataset EGAD00001003515

• HipSci - Bardet-Biedl Syndrome - RNA Sequencing - July 2017

  HipSci - Bardet-Biedl Syndrome - RNA Sequencing - July 2017

  Dataset EGAD00001003531

• HipSci - Healthy Normals - Exome Sequencing - July 2017

  HipSci - Healthy Normals - Exome Sequencing - July 2017

  Dataset EGAD00001003514

• TGS - Comprehensive Molecular Characterization of Colorectal Cancer Metastases [MOSAIC] (2017-05-04)

  This dataset contains all the data available for this study on 2017-05-04.

  Dataset EGAD00001003321

• HipSci - Healthy Normals - RNA Sequencing - July 2017

  HipSci - Healthy Normals - RNA Sequencing - July 2017

  Dataset EGAD00001003529

• TRACERx 100: metastatic samples

  Whole exome sequencing of 10 metastatic biopsies from four TRACERx100 patients (see EGA dataset EGAS00001002247), collected either after relapse or death. The data from these samples are initially published with Abbosh, C. et al. Phylogenetic ctDNA analysis depicts early stage lung cancer evolution. Nature http://dx.doi.org/10.1038/nature22364 (2017). Abstract: Earlier detection of relapse following primary surgery for non-small cell lung cancer and the characterization of emerging subclones seeding metastatic sites might offer new therapeutic approaches to limit tumor recurrence. The potential to non-invasively track tumor evolutionary dynamics in ctDNA of early-stage lung cancer is not established. Here we conduct a patient-specific approach to ctDNA profiling in the first 100 lung TRACERx (TRAcking Cancer Evolution through therapy (Rx)) study participants, including one patient co-recruited to the PEACE (Posthumous Evaluation of Advanced Cancer Environment) post-mortem study. We identify independent predictors of ctDNA release in early-stage non-small cell lung cancer and perform tumor volume limit of detection analyses. Through blinded profiling of post-operative plasma, we observe evidence of adjuvant chemotherapy resistance and identify patients destined to experience recurrence of their lung cancer. Finally, we show that phylogenetic ctDNA profiling tracks the subclonal nature of lung cancer relapse and metastases, providing a new approach for ctDNA driven therapeutic studies.

  Study EGAS00001002415

• TSG knock-out in hiPSCs (2017-08-10)

  We will perform RNAseq to evaluate the effects of the loss of a list of TSGs on the transcriptome. This dataset contains all the data available for this study on 2017-08-10.

  Dataset EGAD00001003556

• Validation for human early embryonic substitutions (2017-05-11)

  PCR and MiSeq validation for early embryonic substitution candidates from 400 Breast cancer patients This dataset contains all the data available for this study on 2017-05-11.

  Dataset EGAD00001003332

• RNAseq - Colorectal organoids and tumoroids (2017-05-04)

  Transcriptome sequencing of tumour tissue, adjacent normal tissue and derived organoids/tumoroids from colorectal cancer This dataset contains all the data available for this study on 2017-05-04.

  Dataset EGAD00001003320

• Mutational Analysis of Colorectal PDX models (2017-05-11)

  Targeted exome sequencing of patient derived xenografts from primary colorectal tumours and liver metastases. This dataset contains all the data available for this study on 2017-05-11.

  Dataset EGAD00001003334

• DEEP-IHEC-release-2017

  Raw data files for the German Epigenome Project (DEEP), IHEC/EpiRR submission of 2017. metadata available at: http://deep.dkfz.de/#/experiments

  Dataset EGAD00001003974

• Correlates of Human Nerve Repair

  This is a longitudinal prospective cohort study in patients with carpal tunnel syndrome undergoing decompression surgery. Phenotypic data and skin biopsies were collected before and 6 months after surgery to determine molecular and cellular correlates associated with neural regeneration and neuropathic pain. RNA sequencing was performed in the skin samples and differential gene expression was determined post compared to pre surgery. The molecular changes identified in skin were correlated with the clinical phenotype representing neural regeneration.

  Study phs001796

• ESGI - Whole Genome Sequencing of samples from the Croatian isolated populations (2017-11-22)

  Whole genome sequencing of sampels from isolated populations from Croatia. The samples are sequenced using the Illumina HiSeq X Ten system. This dataset contains all the data available for this study on 2017-11-22.

  Dataset EGAD00001003812

• Metastatic breast cancer targeted gene screen (2017-05-11)

  The samples will be sequenced for a targeted panel of cancer relevant genes (n ~ 370) and analysed for somatic mutations. This dataset contains all the data available for this study on 2017-05-11.

  Dataset EGAD00001003330

• Somatic Genetics of lesions from a POT1 patient (2017-04-27)

  In this project we will use exome sequencing to identify somatic mutations in lesions from a patient with a germline mutation in the protection of telomeres 1 gene (POT1). This dataset contains all the data available for this study on 2017-04-27.

  Dataset EGAD00001003307

• A Genomic Approach to Improved Diagnosis and Treatment of Neuroendocrine Tumors

  These are RNA-Seq samples from patients undergoing surgery for small bowel and pancreatic neuroendocrine tumors. Normal tissue, primary tumors, lymph nodes, and liver metastases were collected at surgery and stored in RNAlater until RNA extraction was carried out for RNA-Seq.

  Study phs001772

• Study of tumor RNA expression differences between treated and untreated PitNET patients

  The goal of the study is to evaluate response of PitNET to drug therapy before surgery. Patients with and without drug therapy are compared in RNA level. The RNA is extracted from surgery material, sequenced and deferentially expressed genes (DEG) determined.

  Study EGAS00001004736