Loeys-Dietz syndrome: a primer for diagnosis and management. - Wikidata - awgldk - TriplyDB

Loeys-Dietz syndrome: a primer for diagnosis and management.

Loeys-Dietz syndrome: a primer for diagnosis and management.

http://www.wikidata.org/entity/Q34038144

about

Eosinophilia Associated with Disorders of Immune Deficiency or Immune Dysregulation When flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in children MDCT evaluation of acute aortic syndrome (AAS).CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.The Genetics of Aortopathies in Clinical Cardiology.Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.Generation of mice carrying a knockout-first and conditional-ready allele of transforming growth factor beta2 gene Histone Deacetylase 3 Coordinates Deacetylase-independent Epigenetic Silencing of Transforming Growth Factor-β1 (TGF-β1) to Orchestrate Second Heart Field Development Fabrication of tissue-engineered vascular grafts with stem cells and stem cell-derived vascular cells.A missense TGFB2 variant p.(Arg320Cys) causes a paradoxical and striking increase in aortic TGFB1/2 expression.A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling.Genetics of sudden cardiac death in the young.The neuromuscular differential diagnosis of joint hypermobility.Genetic and Developmental Basis of Cardiovascular Malformations BMP signalling in skeletal development, disease and repair.Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.The Link Between Migraine, Reversible Cerebral Vasoconstriction Syndrome and Cervical Artery Dissection.Neurovascular manifestations of connective-tissue diseases: A review.Whole-body magnetic resonance imaging in children: technique and clinical applications.Pathophysiology of aortic aneurysm: insights from human genetics and mouse models.Sudden death due to aortic pathology.TGF-β Family Signaling in Connective Tissue and Skeletal Diseases.Cardiovascular surgery in Loeys-Dietz syndrome types 1-4.Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4.Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling Celiprolol: A Unique Selective Adrenoceptor Modulator.Genes Associated with Thoracic Aortic Aneurysm and Dissection: An Update and Clinical Implications.A rare cause of recurrent aortic dissection.Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.A mutation update on the LDS associated genes TGFB2/3 and SMAD2/3.Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.Heterogeneity of aortic disease severity in patients with Loeys-Dietz syndrome.Aberrant TGF-β activation in bone tendon insertion induces enthesopathy-like disease.Genetic diagnostics of inherited aortic diseases : Medical strategy analysis.Loeys-Dietz syndrome is a specific phenotype and not a concomitant of any mutation in a gene involved in TGF-β signaling.Valve-sparing aortic root replacement in Loeys-Dietz syndrome and a novel mutation in TGFBR2.Transdifferentiation of Human Dermal Fibroblasts to Smooth Muscle-Like Cells to Study the Effect of MYH11 and ACTA2 Mutations in Aortic Aneurysms.Losartan therapy for cardiac disease in paediatricMarfan syndrome.Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome.Endovascular repair of tortuous recurrent femoral-popliteal aneurysm in a patient with Loeys-Dietz syndrome.

P2860

Q26799603-ACCE36A6-E429-4784-B33F-6816991A0D9F Q28081225-3CE5D1E4-82AD-49D9-8124-30EE250BA837 Q30357507-BEC4E89E-FF03-4D12-8221-9336E9C14B67 Q30829917-252EE319-7C5C-4EA1-86A2-705FB5F7C4A5 Q33758342-DBBA0312-B10C-4DCF-AA32-8DC3187C23CF Q34538127-C29F7AE5-0B34-4C87-B8D6-88580B609126 Q34729710-9654D254-D352-4390-B57F-882746F2733F Q36283869-76526B61-5BDD-4A29-8AF2-CDE68A7E3A12 Q37055304-2AD15E99-E59F-4E9A-9077-038E1A57FA69 Q37491474-54B157DF-A7D1-447F-8988-52A4E653E3EA Q37601496-9BA01C61-F63E-40F3-B4EB-0A1AD7BFEC98 Q38259330-68F4F4D3-38FC-49D8-9C4C-7A8287461767 Q38395355-DBEA6116-154E-48FA-A2A8-81DD8C330C05 Q38733125-FE61B8C2-744A-4322-8CE1-19F8219DB276 Q38740288-66103766-D43F-4057-B8DB-2C5E5D54AE89 Q38751533-20B0EBEA-F9B4-4877-9FE9-1D9716BEA1A7 Q38789294-B5072AC4-EF02-4769-BC47-413CFBD6CC0D Q38832500-00AC9E24-2EE2-4E40-81E3-88C61290BF20 Q38845271-F292A649-3F10-44BA-8FB8-1BE85EC636DA Q39030430-B696FB96-FECE-4063-B023-EDB67EA2C076 Q39085595-DA899E29-A042-40C4-9D2E-ED5EE15022EA Q39155183-D4147EA5-E42A-4336-8EC6-8CBD13B3F30F Q39328715-BF5DAD49-DEBC-402F-8D64-25FA573B6BD6 Q39578919-A764FC61-D0C4-4989-B935-46DEE7A96316 Q40977010-788AD73C-0989-4D90-8F7D-CEFE84E42A5A Q41322349-18FA802F-ACFD-4746-B2AE-7E04314EDEF8 Q41513957-0BEEB50D-BC3E-4701-A167-A72604678E12 Q42562706-971EE207-B585-423E-8531-FCE2BB5F52F8 Q47117228-B53E4BE2-CE12-453D-BF47-2459B390D359 Q47824296-B6BC33F5-324A-429D-9F5B-6E6A782B0106 Q47859621-E5918475-DB82-4F4E-BD8F-6AB39C446304 Q48245907-BCDEBD58-9392-4A62-8B95-EA10280FC33D Q48529148-B99BE5C6-20EC-4E5E-97DB-4CEF66AF84A7 Q48788951-C3588772-6CA2-49E3-A67B-9BDF89B9316B Q49167122-DF3F98A5-5C54-47B4-9F72-47DEE9AC11C9 Q50019073-97DB72F3-BCE9-487F-9A5A-A137D6BF767D Q51200966-133D0B29-5465-4B57-BAAB-0FF2897AEC1E Q53359102-7A7180F5-3B8F-43DF-95B3-257CCCC4525A Q53459725-A6D5A76E-70C3-430D-A839-A90E31AFF6A5 Q55272203-49380F32-D515-4461-A776-7440F9BD9130

P2860

Loeys-Dietz syndrome: a primer for diagnosis and management.

http://www.wikidata.org/entity/Q34038144

description

2014 nî lūn-bûn

@nan

2014 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի օգոստոսին 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

Loeys-Dietz syndrome: a primer for diagnosis and management.

@ast

Loeys-Dietz syndrome: a primer for diagnosis and management.

@en

Loeys-Dietz syndrome: a primer for diagnosis and management.

@nl

type

label

Loeys-Dietz syndrome: a primer for diagnosis and management.

@ast

Loeys-Dietz syndrome: a primer for diagnosis and management.

@en

Loeys-Dietz syndrome: a primer for diagnosis and management.

@nl

prefLabel

Loeys-Dietz syndrome: a primer for diagnosis and management.

@ast

Loeys-Dietz syndrome: a primer for diagnosis and management.

@en

Loeys-Dietz syndrome: a primer for diagnosis and management.

@nl

P1433

Q34038144-82A1D99A-5E87-444D-967E-4C8307CE11AC

P1476

Q34038144-5D22F570-FD25-4BED-9302-DE2D65B9F36C

P2093

Q34038144-04968DD7-D852-4003-8F12-F0034AE69907

Q34038144-21B07644-424F-48FA-97C1-7C56ED2E5667

Q34038144-53365C95-ADBD-445A-8A85-776EBAF249C3

Q34038144-A8F0C017-6A74-4A15-BE83-74A8F2FB85C7

Q34038144-BB109871-74FA-4FCD-AE50-8D4D097A0690

Q34038144-EAAAA306-C991-477A-A1D6-B35E157070EC

Q34038144-ED2803C4-D4B5-4A5E-BD90-B8F31797502C

Q34038144-F67451A1-40C3-48EE-9C62-D1FEC500D66A

P275

Q34038144-665C769F-2B04-4F61-889C-C364094C439D

P2860

Q34038144-01773D58-0F1F-48D0-9C0B-DCDFB3079DB5

Q34038144-03B6C5FD-E7E2-4420-BD44-F0719B13BCAD

Q34038144-13B86431-604F-4B6D-965A-9F281EB0850C

Q34038144-14F4B363-0503-4CE6-B343-9D01DAEFD437

Q34038144-224F1C10-7A00-4BDB-BD18-7054248E44AE

Q34038144-25EAF7BB-CAF8-468C-B8BD-DC310A587A0B

Q34038144-25ED8252-DE97-4095-8D29-FA6697B8D897

Q34038144-2FA2CA26-E71E-4D65-8D1A-D91C5426A1C3

Q34038144-35E5B4E7-E0B5-44D4-AD5A-35446C9F6DFD

Q34038144-3E831599-E53F-4EE6-BC65-295EAFBC493F

P2888

Q34038144-9668DA9C-9BC0-4B8F-A156-5CCD693DAD39

P304

Q34038144-5410D5C6-149B-4270-86F8-21F3DA36C405

P31

Q34038144-470C0DD4-3144-42A8-BE9A-1B9073A45D7A

Q34038144-6E15CC37-6660-4ED8-9273-404A113C4AD9

P356

Q34038144-1E997827-1DC5-4353-BEC1-A9B3056C4FAA

P407

Q34038144-924024FF-D5AA-408D-A2AC-76D73B571B34

P433

Q34038144-13A41EA4-B301-40FA-9465-C3B96BDE419E

P478

Q34038144-5160DFCE-1595-44A7-8BB5-FC06147F8DA1

P50

Q34038144-0C74DE18-B86E-4297-9B12-BE6A1F0F958B

P5008

Q34038144-0750E61F-6C67-427D-B463-CEA8C676CE4B

P577

Q34038144-726B8C96-5E27-4744-AB2A-9BC1979587FD

Q34038144-78AE0828-A85F-4D24-BCE3-D2C8D95E5F17

P5875

Q34038144-202FB5B3-D8C2-4D75-B89A-4DECA896D18F

P6179

Q34038144-8B08E9BC-6638-4675-BA89-555A2E20E1E9

P698

Q34038144-5747FF6F-A97E-4FD5-942D-92294A985D50

P921

Q34038144-6311FC49-BA59-4B5F-BF9E-412A8BA78588

P932

Q34038144-040A0508-8A0E-4F06-9189-7E7C3A014F69

P356

P1433

Genetics in Medicine

P1476

Loeys-Dietz syndrome: a primer for diagnosis and management.

@en

P2093

Anthony L Guerrerio

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

Gretchen MacCarrick

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

Harry C Dietz

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

Ismail El-Hamamsy

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

James H Black

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

Pamela A Frischmeyer-Guerrerio

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

Paul D Sponseller

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

Sarah Bowdin

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

P275

Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported

P2860

Severe aortic and arterial aneurysms associated with a TGFBR2 mutation

Educational paper. Connective tissue disorders with vascular involvement: from gene to therapy

Vitamin D deficiency

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

Aneurysm syndromes caused by mutations in the TGF-beta receptor

Characterization of the symptoms associated with dural ectasia in the Marfan patient

[Loeys-Dietz syndrome with acute myeloid leukemia].

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.

Constipation in infants and children: evaluation and treatment. A medical position statement of the North American Society for Pediatric Gastroenterology and Nutrition.

Recommendations for the management of patients with unruptured intracranial aneurysms: A statement for healthcare professionals from the Stroke Council of the American Heart Association.

P2888

P304

576-587

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

P31

scholarly article

P356

10.1038/GIM.2014.11

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

P407

P433

8

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

P478

16

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

P50

P5008

P577

2014-02-27T00:00:00Z

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

2014-08-01T00:00:00Z

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

P5875

260430512

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

P6179

1007267862

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

P698

24577266

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

P921

Loeys-Dietz syndrome

P932

4131122

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