Congenital neutropenia: diagnosis, molecular bases and patient management. - Test2 - elhamkhani - TriplyDB

Congenital neutropenia: diagnosis, molecular bases and patient management.

Congenital neutropenia: diagnosis, molecular bases and patient management.

http://www.wikidata.org/entity/Q33395402

about

Primary immunodeficiencies associated with eosinophilia Congenital defects in neutrophil dynamics Prevention of infections during primary immunodeficiency B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome.A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family.Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations How to differentiate congenital from noncongenital chronic neutropenia at the first medical examination? Proposal of score: A pilot study from the French Severe Chronic Neutropenia registry.CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder Natural history of Barth syndrome: a national cohort study of 22 patients.Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry The antimicrobial propeptide hCAP-18 plasma levels in neutropenia of various aetiologies: a prospective study.Neutrophil depletion impairs natural killer cell maturation, function, and homeostasis.Non-steady-state hematopoiesis regulated by the C/EBPβ transcription factor.Safeguarding the long-term health of hematopoietic stem cell donors: a continuous and evolving process to maintain donor safety and trust.How I diagnose and treat neutropenia.ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease.High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.Expression of the secondary granule proteins major basic protein 1 (MBP-1) and eosinophil peroxidase (EPX) is required for eosinophilopoiesis in mice Neutropenia in primary immunodeficiency Severe congenital cyclic neutropenia: A case report.Granulocyte colony-stimulating factor alters the systemic metabolomic profile in healthy donors Recent insights into inherited bone marrow failure syndromes.Neutrophil homeostasis and periodontal health in children and adults.Colony-stimulating factors for febrile neutropenia during cancer therapy.Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.Modern management of phagocyte defects.Establishment and directed differentiation of induced pluripotent stem cells from glycogen storage disease type Ib patient.How I manage children with neutropenia.Severe congenital neutropenias.Cardiomyopathy in a male patient with neutropenia and growth delay History and Outcome of Febrile Neutropenia Outside the Oncology Setting: A Retrospective Study of 76 Cases Related to Non-Chemotherapy Drugs.WHIM Syndrome With a Novel CXCR4 Variant in a Korean Child.Old and new faces of neutropenia in children.Genetic analysis and clinical picture of severe congenital neutropenia in Israel.Spectrum of bone marrow failures of myeloid series: new report of neutropenic patients from a referral pediatric center in Iran.New monogenic disorders identify more pathways to neutropenia: from the clinic to next-generation sequencing.

P2860

Q26746046-551852C2-D0FB-4DFB-882A-D994314B476D Q26996029-2523FFEC-248A-4DF2-8121-636D68118F9C Q27008430-61CC3F61-B555-4DE0-A59F-5CBA37F9DD23 Q28256100-C7C0A147-3C03-4CC0-AAAB-5B22F321D87A Q33400681-021A5835-E270-412B-BEDD-7AF0E4A009AF Q33408305-585284D3-DEEE-4F61-91BC-B35E2CD43C40 Q33410815-3FA75F1B-C3C1-4206-975B-B89614C8453F Q33418673-ADC598DC-3FCD-4863-B121-9DA3725A806F Q33443851-1F367024-0544-44D2-BEC5-D3C2165FA483 Q34458607-0FA41B30-B5A7-4402-AC5E-10BAC51AA10E Q34651626-7FD5AB00-20C2-4ECF-988D-4C5EEB33F374 Q34787122-1729F247-30D6-41A9-99F8-DBDA0BBAC38D Q35793572-1A8D860A-6D28-4257-97CF-6F084308C085 Q35826008-67D56EBA-1CC9-4A3B-9DED-8180D955A697 Q35904180-AB0CCA90-E307-4383-994C-0DBA497174B9 Q36162892-3C59C97D-9912-4A41-9990-61FE2194A7B2 Q36342838-4289A15F-62BF-46CC-8CE2-F69767CBC236 Q36573828-19502285-A271-4955-9F98-330D18421B43 Q36649222-2FC52D01-B73F-42C1-B699-D6476A8A2931 Q36722881-355E0782-A1B0-496B-9CF6-639C7C266D00 Q37023060-9409FD02-801B-4D71-A9F8-5BF84D67C69F Q37065706-A831E12F-5FEB-4B03-9085-DDC548B39950 Q37210757-E29A85CC-D8A4-4947-BE59-56D072FDBFF5 Q37412157-400D4011-A064-4EA1-8296-041FDB509BFB Q37447658-CEC9D469-2A7A-42C3-B14E-88F9797AF596 Q37589103-2BE32B13-251F-43CF-A955-2BBDD6AB8F7B Q37594566-18B05D0B-CE8C-4BEA-A5B5-316BE43F9341 Q37626772-5CA2D79B-7A17-4B75-BB30-305DC8A72BAF Q38183784-7DA3B5A2-0B4F-4E98-AD2D-25614F98EC40 Q38950276-17CED3DC-1588-4EE1-A797-40594D73232C Q39242461-34674355-6BD0-4E7B-A8DE-EF753D5F4D2B Q39248493-9473C570-7CD6-4A48-9EF8-CB56FA0DCF81 Q39359222-381E9873-EA46-4772-AD3E-E18D1478CDC3 Q40327047-6093BB07-FDAE-4B54-9388-08B41C26F7CD Q41928773-42CE341D-86CA-471F-A642-B399B807CDB6 Q42331781-03AA31BB-0D0B-4508-A4CD-3394175F367A Q42399841-2A4517E2-33F8-47C9-B867-A1EF5B02FC93 Q44446379-C5104DE6-21B3-4A33-A135-504B52970B61 Q45378317-EC96F993-A8D3-40EA-9DC2-BF1EDE9DEB23 Q46853118-9EF46CD7-A7BD-486B-9FA2-7A465C6269E8

P2860

Congenital neutropenia: diagnosis, molecular bases and patient management.

http://www.wikidata.org/entity/Q33395402

description

2011 nî lūn-bûn

@nan

2011 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի մայիսին հրատարակված գիտական հոդված

@hy

2011年の論文

@ja

2011年論文

@yue

2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

@zh-mo

2011年論文

@zh-tw

2011年论文

@wuu

name

Congenital neutropenia: diagnosis, molecular bases and patient management.

@ast

Congenital neutropenia: diagnosis, molecular bases and patient management.

@en

type

label

Congenital neutropenia: diagnosis, molecular bases and patient management.

@ast

Congenital neutropenia: diagnosis, molecular bases and patient management.

@en

prefLabel

Congenital neutropenia: diagnosis, molecular bases and patient management.

@ast

Congenital neutropenia: diagnosis, molecular bases and patient management.

@en

P1433

Q33395402-4C94F4BA-39B9-4C43-9C7D-717EF93D7EB9

P1476

Q33395402-62B25D64-06F3-4E49-8E5B-EA503022D49B

P2093

Q33395402-1E45EFC2-A1DC-4AE9-A7ED-B68592DAC645

Q33395402-4BCCE82F-227A-4E20-AF40-1AAFD5936AD2

Q33395402-7E151DD6-707A-4E44-8262-DE076BE145E1

Q33395402-8AE57BC0-CE9C-4F28-BC66-86CF569F053B

P2860

Q33395402-00DFB7F4-4F39-4F43-8110-4E24EAFFD899

Q33395402-022318D1-97A3-4895-99CD-DCD61EC8A949

Q33395402-0224FBFE-18BD-4962-B628-695BECF05C55

Q33395402-03622851-9946-4D8E-A58A-71013265BD96

Q33395402-04500CDF-2A10-4019-A2E6-1196F6E4A9EA

Q33395402-051AE42C-A2C1-4B6E-9696-1B01C33BE707

Q33395402-0669F3F5-B6D8-48DB-8778-8884DFBD0B1B

Q33395402-0756D49F-F78E-42EB-B926-A8E05A2DF37E

Q33395402-07CD003C-4D39-48F8-A1FF-CC609B32DE75

Q33395402-08EFCAF3-7DD8-42AF-A48B-9BBEBB0460B2

P2888

Q33395402-039E0E82-6897-4B72-A5DD-E97A4CABF1A2

P304

Q33395402-7F323127-BC58-4137-B6C4-B16D77F9EC01

P31

Q33395402-C6FE5B79-B983-43AD-8116-0E716E260028

P356

Q33395402-8AD2817C-82CA-45F4-90D6-ADF533F56EAE

P478

Q33395402-8CFB8C0A-2854-48A1-853A-D508DD94042D

P50

Q33395402-4D997ED8-DCDA-4302-9316-747067041102

P577

Q33395402-CF16AD11-B07D-4D96-A5D8-FD930B2377EB

P5875

Q33395402-E9DB7BFF-0CFD-445B-9974-34E5F7ABC976

P6179

Q33395402-8BAA9CC4-8B26-43CC-97A3-F8B1ACA83916

P698

Q33395402-D28D2210-E08B-4DC1-A78A-2E833EE55A98

P921

Q33395402-92309D0B-B94D-421B-9660-B736D7C91DAD

Q33395402-ECDEC9D2-0E85-4FAD-A614-7CAA72D1DB59

P932

Q33395402-CD34FD25-BC75-46DF-816E-9EDA2922C19D

P356

P1433

Orphanet Journal of Rare Diseases

P1476

Congenital neutropenia: diagnosis, molecular bases and patient management.

@en

P2093

Blandine Beaupain

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

Christine Bellanné Chantelot

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

Jean Donadieu

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

Odile Fenneteau

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

P2860

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome

Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome

The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA

LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

Epigenetic regulation of protein-coding and microRNA genes by the Gfi1-interacting tumor suppressor PRDM5

Impaired neutrophil migration and phagocytosis in IRAK-4 deficiency

Contributions to neutropenia from PFAAP5 (N4BP2L2), a novel protein mediating transcriptional repressor cooperation between Gfi1 and neutrophil elastase

Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport

Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose-6-phosphatase-beta-deficient neutrophils in a congenital neutropenia syndrome

P2888

P304

26

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

P31

scholarly article

P356

10.1186/1750-1172-6-26

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

P478

6

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

P50

P577

2011-05-19T00:00:00Z

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

P5875

51149744

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

P6179

1050942924

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

P698

21595885

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

P921

P932

3127744

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