Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies. - Wikidata - wikimedia - TriplyDB

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies.

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies.

http://www.wikidata.org/entity/Q34375180

about

Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity Medical case reports in the age of genomic medicine Severe infectious diseases of childhood as monogenic inborn errors of immunity The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions.Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults.Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind Novel primary immunodeficiency candidate genes predicted by the human gene connectome Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.Inborn errors in immunity: unique natural models to dissect oral immunity.Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations.Functional IRF3 deficiency in a patient with herpes simplex encephalitis.Comparison of predicted and actual consequences of missense mutations.Can the impact of human genetic variations be predicted?The human gene damage index as a gene-level approach to prioritizing exome variants.Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.Host genetics of severe influenza: from mouse Mx1 to human IRF7 Primary Immunodeficiencies and Inflammatory Disease: A Growing Genetic Intersection.Genetic errors of the human caspase recruitment domain-B-cell lymphoma 10-mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity.Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage.Kaposi Sarcoma of Childhood: Inborn or Acquired Immunodeficiency to Oncogenic HHV-8 A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression.Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts Studying human immunodeficiencies in humans: advances in fundamental concepts and therapeutic interventions.Novel Genome-Editing Tools to Model and Correct Primary Immunodeficiencies.Genomics of Immune Diseases and New Therapies.Dysfunction of the MDM2/p53 axis is linked to premature aging.From Genes to Mechanisms: The Expanding Spectrum of Monogenic Disorders Associated with Inflammatory Bowel Disease.Advances, practice, and clinical perspectives in high-throughput sequencing.Rare phenotypes in the understanding of autoimmunity.Exome and genome sequencing for inborn errors of immunity.

P2860

Q24306407-06911318-2846-4920-8573-3E8EAB324D86 Q26774876-56547C21-C3F6-4E91-92B5-4A4ED0498538 Q26775891-8EC8AF1D-DF4B-4F55-BF3F-7065159A270B Q27014740-28E46605-7574-475F-98D0-6A061C8F370A Q28266613-02FE1807-505C-44F9-BDD4-8D2AD020C50E Q28270890-FA0D8FAF-A8C2-4AA7-81A4-DC1420F9E8ED Q29147543-7EBD4A0C-EA25-47DE-8DDC-7E25EE0B54A9 Q31060798-0DD83DCB-12AB-45D7-8311-C8F30FA80C9B Q33428604-BCFB1851-4097-4BFB-B4EE-F0479E6B24FC Q34468857-7609BC8F-B5B6-4404-8C9B-AABE1EBCAAE6 Q35190461-6BB374EE-0B98-4D5A-8211-A8A8E49C43AF Q35238656-A19CA391-A318-42F8-80C4-318DC062DC55 Q35567101-DBDEA06D-168B-4911-908C-F41B5FF22DEB Q35568424-B95A3FB8-636D-4B5C-96CC-4959E53192BF Q35671268-1F5251A2-0B65-4367-8170-1FD7ACCFA14C Q35780432-F3BEE5F6-3571-4E0D-95EE-97C7470F7746 Q35797001-7C90A692-84E7-474E-884E-75843FEBA960 Q35888105-B69E58E0-BAF9-4DB5-B557-236DD5AEA073 Q35992221-CE9E8AC7-EFDE-4BA1-A172-80B0931C2B9B Q36079003-3AAEFB94-0415-4C69-80F8-A6D9C85A8375 Q36079122-C42800BA-8410-4CA5-9050-08600D7B1ACE Q36268400-47749D62-4805-4DF6-82C5-36DEEDB45343 Q36362825-751616F4-8308-4CD1-8FAA-05F51993112D Q36522870-3F2C1A9E-682D-416E-BCD7-E888719A7494 Q36535366-F934394B-4921-4864-8940-9013081BB17E Q36973638-7DC7D47E-C3A5-49AC-A257-0268E02FD965 Q37021842-8F16A376-4AC2-4409-AD21-77FBADE98D05 Q37173586-2B3FB8DB-C743-4A8E-9BCA-C036503D5046 Q37173593-FD2CACB9-DF49-4138-BEA8-B7FA1929F946 Q37250132-26B5E835-426E-4BAB-8702-B9E46E2C2F16 Q37346692-3F70DECE-EE36-4347-99E4-2B428C660A89 Q37612571-004B5D4E-1D4F-460B-A3B7-5129C0B82ACC Q37730201-372F58B7-6C8E-42F6-840E-55FED225B54A Q38519892-2FFB3FE2-CD30-416F-B402-046E8D64D0C3 Q38560780-2E65C918-0C31-4112-B3F0-F22E45B8D054 Q38605937-617E0369-F936-4E3E-9B83-4C9679ADFA22 Q38619050-91FA82EA-18B3-46EA-8708-125AE3A53963 Q38646285-FFD3584C-0814-417F-822B-00917CAAF49A Q38937349-DC5362A0-9DD0-4501-8A8D-BFB8D9764A46 Q38976164-AF37F6E2-AC81-44CF-B11C-344B5693735F

P2860

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies.

http://www.wikidata.org/entity/Q34375180

description

2014 nî lūn-bûn

@nan

2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

Guidelines for genetic studies ...... om primary immunodeficiencies.

@ast

Guidelines for genetic studies ...... om primary immunodeficiencies.

@en

Guidelines for genetic studies ...... om primary immunodeficiencies.

@nl

type

label

Guidelines for genetic studies ...... om primary immunodeficiencies.

@ast

Guidelines for genetic studies ...... om primary immunodeficiencies.

@en

Guidelines for genetic studies ...... om primary immunodeficiencies.

@nl

prefLabel

Guidelines for genetic studies ...... om primary immunodeficiencies.

@ast

Guidelines for genetic studies ...... om primary immunodeficiencies.

@en

Guidelines for genetic studies ...... om primary immunodeficiencies.

@nl

P1433

Q34375180-49FFDB58-F566-42D3-978E-156320AF1844

P1476

Q34375180-A674C0CA-8361-4A60-960E-BF4D773B94D2

P2093

Q34375180-1CD23EB4-6336-4145-A8B8-4F308CA6980C

Q34375180-2944806A-EF09-4F3D-889D-6FBDDB2D4DE3

Q34375180-40789786-9081-46C2-866A-AC69F151C6DE

P2860

Q34375180-01D74E7F-2F36-4B5A-A680-C4FE50230029

Q34375180-035D480A-97BC-41E0-B502-6A5A179BEC6C

Q34375180-05D02CC1-D923-4404-8A1C-037F5E387408

Q34375180-06C745F5-D3EB-4252-BE60-EF52BD8F8904

Q34375180-0CC6996D-5B4F-4814-AD1E-AD51C6758B1D

Q34375180-13BD0A50-B7E4-4656-85D7-0DF2D6252826

Q34375180-16DAF078-8CBF-439D-AA25-177B51C3CDAA

Q34375180-19DDF0DF-8C2D-4D17-8BE4-C27CCAB41812

Q34375180-201E19AC-2093-46B6-861A-171A93267FE1

Q34375180-258CDCF3-FF95-4578-ABD2-84F7EF7FA830

P304

Q34375180-1230F3C2-1F70-4756-95AD-13B78C288EE3

P31

Q34375180-87ECDBDF-AD8E-474C-B474-0E2F9B437435

P356

Q34375180-7AD032B1-3E52-4582-9A28-0BD1AD3DD2AA

P407

Q34375180-960B7307-0931-4285-AC92-E6DE31278989

P433

Q34375180-E5A0CCC4-9737-4812-89D8-4234A5023DAC

P478

Q34375180-64B8C5FD-DA00-445D-A65E-61D722204023

P50

Q34375180-4B1F0A0E-3CE2-4B85-BDFD-BA694AFF8572

Q34375180-62966561-6EE8-4498-856F-A4AAF4B271DC

P577

Q34375180-A9236F22-890D-435D-9BC4-44801AEBD1CD

P5875

Q34375180-870FF4D0-B580-4937-94B3-C1F5472DB18D

P698

Q34375180-73BCDDF5-C320-485C-AE45-CF1AD05963B3

P921

Q34375180-511362C5-6363-4790-8901-CFD78706A7CD

P932

Q34375180-145CF821-A206-4F8B-A2C9-DC330429138E

P356

P1433

Journal of Experimental Medicine

P1476

Guidelines for genetic studies ...... om primary immunodeficiencies.

@en

P2093

Luigi D Notarangelo

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

Mary Ellen Conley

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

Stephen J Seligman

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

P2860

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

An essential role for BLNK in human B cell development

An integrated map of genetic variation from 1,092 human genomes

The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage

Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor

Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism

Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection

Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency

Human Trypanosoma evansi infection linked to a lack of apolipoprotein L-I

Database resources of the National Center for Biotechnology Information

P304

2137-2149

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

P31

scholarly article

P356

10.1084/JEM.20140520

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

P407

P433

11

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

P478

211

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

P50

Jean-Laurent Casanova

P577

2014-10-13T00:00:00Z

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

P5875

266948035

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

P698

25311508

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

P921

P932

4203950

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