Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia - Wikidata - awgldk - TriplyDB

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

http://www.wikidata.org/entity/Q34212011

about

Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient Human genetics and genomics a decade after the release of the draft sequence of the human genome Human genome sequencing in health and disease Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk Genetic risk prediction in complex disease Plant Sterols, Stanols, and Sitosterolemia Genomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics research Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects Exome sequencing: a transformative technology Genomic sequencing in clinical trials Estimating genotype error rates from high-coverage next-generation sequence data.Inflammatory dilated cardiomyopathy in Abcg5-deficient mice.Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders Performance comparison of whole-genome sequencing platforms.Company profile: Complete Genomics Inc.The role of replicates for error mitigation in next-generation sequencing.VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer Statistical guidance for experimental design and data analysis of mutation detection in rare monogenic mendelian diseases by exome sequencing.Gene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectal cancer type X.Molecular genetic testing and the future of clinical genomics.Patient-controlled encrypted genomic data: an approach to advance clinical genomics.The promise of whole-exome sequencing in medical genetics.In depth comparison of an individual's DNA and its lymphoblastoid cell line using whole genome sequencing.Missing genetic risk in neural tube defects: can exome sequencing yield an insight?Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing.Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.Rare variant APOC3 R19X is associated with cardio-protective profiles in a diverse population-based survey as part of the Epidemiologic Architecture for Genes Linked to Environment Study.Exome sequencing in Parkinson's disease.Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.You never call, you never write: why return of 'omic' results to research participants is both a good idea and a moral imperative.Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding.Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores The impact of genomics on pediatric research and medicine.DNA sequencing: clinical applications of new DNA sequencing technologies.Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.Emerging LDL therapies: Using human genetics to discover new therapeutic targets for plasma lipids.Genetic Analysis in Translational Medicine: The 2010 GOLDEN HELIX Symposium.

P2860

Q21131287-53D8C478-3657-4534-A4C8-4AF5AF867E7A Q21245451-B17819A1-5BBC-4D32-9D9E-937E30B5BC1B Q22065433-12493ED7-DB31-48C9-A793-52D45DF7AAAE Q24623830-9F3F3F48-3C2D-48B8-B2F6-126F537F382B Q26751001-5B960CCA-E63C-4B78-BE23-6E8FA2093433 Q27003094-E404B947-647B-4579-9F62-3CC9957D0E3D Q27027720-46A67E9D-9F33-4107-8C64-CECA28B800B1 Q28083667-DF49CBA5-7DBD-4840-A5CA-031DDB809855 Q28601377-73C7C6A0-8BAD-42B7-8CC9-C561C1FCDFF4 Q28610872-0C8D6C6D-C1BB-4CBD-8555-1A61499CC0A6 Q28731354-5AC84638-A9C2-4076-B759-0668F4348F10 Q28732333-87289AD8-B003-4B68-A65D-F8C598A63B59 Q30859169-F58E4BE6-18E5-4670-911D-78171D57773C Q33404236-43FAD57A-57CA-4AA5-AA78-8D12DE01C38B Q33806845-C167942C-45B3-47EB-A2D2-5411803E6B77 Q33824777-2900F902-11F8-4C93-B486-467C98687217 Q33827519-48D1C492-882E-4DBE-85FB-F84B2406849B Q33921022-00C61B62-C4B3-4DC1-963A-3D7FBF1E761D Q34115271-EC6F78C8-B9BD-4052-A607-36E7792A6FDE Q34163502-83D96B22-33DB-4308-92DA-429667378F02 Q34269998-AB5D5E75-D8BE-44C7-B653-3B133700FD1E Q34345162-C6E61154-BD3F-496D-B102-8A6BE2EABC0E Q34346566-E606FAAD-3482-47ED-9B61-2C11CAF8AC19 Q34382912-AD64795A-747D-4124-AD54-02028EF39120 Q34413907-13841329-A6A6-4232-A885-F8916A3B77E0 Q34429995-C578344D-8471-4133-9EDE-F4A8D28885B9 Q34480873-D0104925-F605-492E-B639-9B9C6F49A07D Q34551175-E06E9778-515E-4553-A3EB-CD0628CDD99C Q35009487-886A71A2-BEDC-47CB-AF93-DFC16EF0FDF4 Q35103516-0432C6AB-7269-4D88-AE80-942C0EA4CE4B Q35204454-D5C86EAE-D09B-45E2-B382-E76115ABC508 Q35627358-3F775FB4-6B86-414D-8CEF-D56171812E30 Q35648306-3AC90375-7753-4E4B-AB96-EF88571C25F6 Q35752486-C3387559-03F7-413D-9D83-9DE240DD6496 Q35904556-9CF04D2F-1BAE-4AE3-BDEA-C7B20399178F Q35996805-0CA40281-7B04-464A-82C1-C04E24B007AA Q35999462-D7F7264D-19A2-4743-ADA0-9DA44C770E3B Q36100353-791FBAA7-71C2-4ABC-B30F-DC1231AF6A87 Q36951750-DABB8D24-49BF-4611-A475-D96C7CA90EBD Q37226675-86E773BD-1CA0-4D8F-92D6-8C0C159B4E07

P2860

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

http://www.wikidata.org/entity/Q34212011

description

2010 nî lūn-bûn

@nan

2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

2010年の論文

@ja

2010年論文

@yue

2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

@wuu

name

Identification by whole-genome ...... or severe hypercholesterolemia

@ast

Identification by whole-genome ...... or severe hypercholesterolemia

@en

Identification by whole-genome ...... or severe hypercholesterolemia

@nl

type

label

Identification by whole-genome ...... or severe hypercholesterolemia

@ast

Identification by whole-genome ...... or severe hypercholesterolemia

@en

Identification by whole-genome ...... or severe hypercholesterolemia

@nl

prefLabel

Identification by whole-genome ...... or severe hypercholesterolemia

@ast

Identification by whole-genome ...... or severe hypercholesterolemia

@en

Identification by whole-genome ...... or severe hypercholesterolemia

@nl

P1433

Q34212011-B4F079E1-B56B-42B8-B252-CB9FF4AE541A

P1476

Q34212011-75613867-FDF8-4D99-A13B-A21C40A9C69C

P2093

Q34212011-0F2CB85A-67F1-4F94-BD40-8E5E58629914

Q34212011-3B1E1532-539E-4DA3-90BE-7F93401BF06A

Q34212011-5B1E5F43-DAFF-43B0-8B5E-AF8A014C0FC7

Q34212011-A91183C0-2178-46BB-836A-CAAC5CFA0E95

P2860

Q34212011-043E6A10-4882-4707-975D-6D4D5CFE78A9

Q34212011-05A1F77B-B8E3-4B61-AA4E-B82B24F7145A

Q34212011-084FA0DC-B549-48B2-B336-C2EBC51F10A7

Q34212011-40621B0A-1471-4B4C-BC80-B26C5C3426ED

Q34212011-44310222-20A7-4E41-B135-3F4850F8471A

Q34212011-50E739C7-C937-4D9A-9D7E-50E0B4D701DA

Q34212011-53454DAD-00FC-40EA-A225-2C9C3118F390

Q34212011-65D5C178-F12A-47B5-ADD8-A90AA450CB5B

Q34212011-6873BCE8-7699-4ED5-A863-147C397541DE

Q34212011-8727832D-274A-45E0-A961-E6266565B85D

P304

Q34212011-7BB9C698-D5EE-4533-87B0-A48C1D389DBB

P31

Q34212011-824E7222-E920-4009-97C8-4B9B6224D15C

P356

Q34212011-C3A120DA-F4BF-4C40-B1F7-2F76781BA125

P433

Q34212011-4D4CA867-3715-4832-974F-F2BDE73C5C10

P478

Q34212011-4DA6706A-340B-4EB7-90E7-1204382FEF20

P50

Q34212011-64A9EA05-8990-439D-A667-2B7C5213C52E

P577

Q34212011-ED30CD09-FFA6-4CD8-9702-F6AF24A51E47

P5875

Q34212011-CD9C8C3B-9BF8-4AED-B8F4-D1B8C0B65440

P698

Q34212011-9999683C-F559-4F9D-807C-1F0BD5669EA9

P921

Q34212011-98E8656C-FAE8-4E35-B675-4950F4496D6C

P932

Q34212011-564A825A-C775-4142-AF90-1A470AFA5E77

P356

P1433

Human Molecular Genetics

P1476

Identification by whole-genome ...... or severe hypercholesterolemia

@en

P2093

Evan Stein

http://www.w3.org/2001/XMLSchema#string

Helen H Hobbs

http://www.w3.org/2001/XMLSchema#string

Jonathan C Cohen

http://www.w3.org/2001/XMLSchema#string

Jonathan Rios

http://www.w3.org/2001/XMLSchema#string

P2860

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters

Familial apolipoprotein E deficiency

Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

Exome sequencing identifies the cause of a mendelian disorder

Targeted capture and massively parallel sequencing of 12 human exomes

Monogenic hypercholesterolemia: new insights in pathogenesis and treatment

Sequencing technologies - the next generation

Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein

P304

4313-4318

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1093/HMG/DDQ352

http://www.w3.org/2001/XMLSchema#string

P433

22

http://www.w3.org/2001/XMLSchema#string

P478

19

http://www.w3.org/2001/XMLSchema#string

P50

P577

2010-08-18T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

45707851

http://www.w3.org/2001/XMLSchema#string

P698

20719861

http://www.w3.org/2001/XMLSchema#string

P921

hypercholesterolemia

P932

2957323

http://www.w3.org/2001/XMLSchema#string