Establishing Novel Detection Techniques for Various Genetic-Related Diseases by Applying DHPLC Platform.
NCT00154960 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 1000
Last updated 2005-11-28
Summary
In this, here we want to present a new method for analysis variation in gene copy number for patients and carriers of SMA. This is a relative quantitation method and, therefore, relies on the inclusion of one or more internal control or reference sequences; quantitation of DNA is relative to this reference sequence of known copy number. A peak height from within a potentially duplicated or deleted target region is amplified simultaneously with a disomic reference region in a multiplex PCR system.
Conditions
- Spinal Muscular Atrophy
- Neonatal Hyperbilirubinemia
- Colon Cancer
Sponsors & Collaborators
-
National Taiwan University Hospital
lead OTHER
Principal Investigators
-
Yi-Ning Su, MD,PhD · National Taiwan University Hospital
Eligibility
- Min Age
- 0 Years
- Sex
- ALL
- Healthy Volunteers
- Yes
Timeline & Regulatory
- Start
- 2004-06-30
Countries
- Taiwan
Study Locations
More Related Trials
-
Crossed Leg Sign and it's Correlation With Significant Pathology
NCT01569542 ·Status: UNKNOWN
-
Evaluation of Different G6PD Testing Platforms
NCT02104518 ·Status: COMPLETED
-
Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2
NCT01970735 ·Status: COMPLETED ·Phase: NA
-
Significant Pathology Associated With Crossed Leg Sign
NCT01569555 ·Status: UNKNOWN
-
Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome
NCT00873678 ·Status: COMPLETED
-
NGS Panel of Incomplete Forms of Ocular Albinism
NCT04495218 ·Status: COMPLETED
-
Natural History of Amyloid Deposition in Adults With Down Syndrome
NCT01303133 ·Status: COMPLETED
-
Renal HYPODYSPLASIA : Genetic and Familial Assessment
NCT00925379 ·Status: COMPLETED
-
Hereditary Paraganglioma: Evaluation of Screening Methods to Detect Tumors in SDH Positive Carriers
NCT00188019 ·Status: COMPLETED ·Phase: NA
-
Validation of New G6PD Point of Care Tests Against Gold Standard Quantitative
NCT02625285 ·Status: COMPLETED
-
Trunkstability: a Predisposition for Armfunction
NCT05646966 ·Status: COMPLETED ·Phase: NA
-
CGH Array in Bilateral Clubfoot
NCT04737083 ·Status: UNKNOWN
-
The Molecular Biology of Paroxysmal Nocturnal Hemoglobinuria (PNH)
NCT00721864 ·Status: COMPLETED
-
Secondary Findings From High-throughput Sequencing: How to Announce Them With Respect to the Patient's Needs
NCT03288727 ·Status: COMPLETED ·Phase: NA
-
Validation of the RADIAL Algorithm for Diagnosis of Autosomal Recessive Cerebellar Ataxia
NCT04261127 ·Status: RECRUITING ·Phase: NA
-
Hematuria Evaluation Trial for Subjects With Microscopic or Gross Hematuria to Determine the Absence or Presence of Bladder Cancer
NCT00975455 ·Status: COMPLETED
-
Clinical Presentation and Renal Outcome of Patients With Tuberous Sclerosis Complex and/or Renal Angiomyolipoma in the Great West Region of France
NCT02887781 ·Status: RECRUITING
-
Down Syndrome Biomarker Initiative (DSBI)
NCT02141971 ·Status: COMPLETED
-
Evaluation of Prognostic Scores in Patients With Upper Gastrointestinal Bleeding and Cancer
NCT02508883 ·Status: COMPLETED
-
Handgrip Strength (HGS) With HGS Asymmetry Are Associated With All-cause Mortality and Hospital Readmissions
NCT05397444 ·Status: COMPLETED
-
Application of UCAD for Diagnosing Urothelial Carcinoma.
NCT03998371 ·Status: UNKNOWN
-
Assessment of Bleeding Symptoms in Normal Individuals Using a Comprehensive History Phenotyping Instrument
NCT00772434 ·Status: COMPLETED
-
Natural History of Pompe Disease
NCT03564561 ·Status: RECRUITING
-
Vascular Abnormalities and Bleeding Diathesis
NCT04553172 ·Status: COMPLETED
-
Standardisation of Investigations of Mild Bleeding Disorders
NCT02329899 ·Status: COMPLETED