Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. - Wikidata - awgldk - TriplyDB

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.

http://www.wikidata.org/entity/Q37970727

about

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome.Inherited bone marrow failure syndromes in adolescents and young adults.Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes.Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry.Marrow failure: a window into ribosome biology Ribosomopathies: mechanisms of disease.The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes.In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency.The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data.Impaired ribosomal subunit association in Shwachman-Diamond syndrome.Evaluation and Management of Chronic Pancytopenia Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child.Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes.Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update.Advances in the understanding of Barth syndrome.Recommendations on hematopoietic stem cell transplantation for inherited bone marrow failure syndromes.Genetic predisposition to hematologic malignancies: management and surveillance.Shwachman-Bodian-Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from C/EBPα and C/EBPβ mRNAs Modern management of phagocyte defects.Germline Genetic Predisposition to Hematologic Malignancy.How I manage children with neutropenia.Pancreatic Disorders.Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome.Thoracic Hypoplasia at Birth as Presenting Feature of Shwachman-Diamond Syndrome in Twins.Shwachman-Diamond syndrome (SDS) in a preterm neonate.Short stature: an ordinary sign for an unordinary diagnosis.First experience of hematopoietic stem cell transplantation treatment of Shwachman-Diamond syndrome using unaffected HLA-matched sibling donor produced through preimplantation HLA typing.Two cases of Shwachman-Diamond syndrome in adolescents confirmed by genetic analysis.Atrioventricular septal defect in a case of Shwachman-Diamond syndrome.Association of isochromosome (7)(q10) in Shwachman-Diamond syndrome with the severity of cytopenia.A clinical algorithm predicts hematological complications in Shwachman-Diamond syndrome?Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype.Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome.Further evidence for the involvement of in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia Mutation Screening of Elongation Factor 2 in Shwachman-Diamond Syndrome Patients Lacking Mutations in the SBDS Gene

P2860

Q33400681-3004745E-EC88-4793-9F7B-DA36E56A02E1 Q33415672-0C24617D-85F7-497C-8F6E-DBCBAD997EA3 Q33430004-BDAF5C83-61F0-464A-8EA3-22F06537DE18 Q33756158-59F48605-55A0-4499-89FB-5D3655D03337 Q33829402-60E77EDF-2593-4BDC-90BA-B4DA79D18370 Q34431422-A78472E0-9116-4AC1-9FF3-DE4B86D9BDFC Q34454066-5D5B48AB-46EA-42B2-A846-2BC0C88FF3C4 Q35571027-23B21957-51FC-45F1-8C00-62A0E930303D Q35658181-2C9D03AE-B9E4-4008-8C78-372AFDA6B123 Q36372936-6738A924-9AE7-4F6C-AF6C-9A5965325D41 Q36509633-C17BE482-EE23-4CD0-A170-C81ADDF6FFBE Q36608344-782406F7-91D4-4B19-9115-896566330FEF Q37212637-2F570A05-8BF9-4F84-91A0-2C23E26DAEB5 Q38018130-CF668FE6-6A5C-45BC-A704-18EA42D0BE3A Q38076884-6646190B-E099-4D2D-89AA-A544E34B47C7 Q38083725-4922B802-E659-4F8E-88F6-C25A77BCFC89 Q38520096-B302F7B0-75F5-44A9-9B17-EEF1F7A42A57 Q38733102-795BD72A-4AE5-4812-8605-91EDBF3BBF3D Q38804023-D26B1FFB-7A27-46FC-A5FF-BA3D72BEFA4D Q38950276-3658E924-255C-4973-8001-832FBFE67DEC Q39180483-2B1F67C5-4A33-49A9-B767-5723FDF0ED87 Q39248493-0C230ED5-D835-4B22-818C-76130CE04140 Q39305127-DC9C6745-2B1D-4176-8803-94BA45D6A148 Q39486271-3705AF8E-5840-42CE-8036-6A081FC33E81 Q41126955-DA8748A3-F531-4F41-A10C-23E24E5A5DFF Q41664504-A0E5D52D-0BFE-4505-AC0C-9D3422FF5B26 Q42339320-115515B7-F483-48EE-9580-81B9A3FF9F56 Q42355455-1767A548-F7AC-4AAC-AED6-341E2347EDB8 Q43148963-E58912FF-C8E7-4F9F-BD2C-2735BAD65EF5 Q45186904-08BCFF2C-040A-4D9B-B397-B87E7D7DB90C Q48154901-0EB2EAEB-A287-4432-90C2-F5F2B0771FB3 Q51321750-33C217A4-7CE2-4B5F-BEA3-E9302F0C5095 Q53111996-4E9CA974-0690-49BD-9B00-BBB7E912EB1F Q55230233-1CEEBE4A-B20D-4083-8F7F-1D8574076759 Q57761585-AB089F36-B29D-4BC5-A435-F487708444B3 Q58694621-FB69A5F2-C521-4F76-8C77-31B537C79E37 Q59001404-F2437735-C732-4ED3-8D37-F5E0BD7BD5FB

P2860

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.

http://www.wikidata.org/entity/Q37970727

description

article científic

@ca

article scientifique

@fr

articol științific

@ro

articolo scientifico

@it

artigo científico

@gl

artigo científico

@pt

artigo científico

@pt-br

artikel ilmiah

@id

artikull shkencor

@sq

artículo científico

@es

name

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.

@en

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.

@nl

type

label

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.

@en

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.

@nl

prefLabel

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.

@en

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.

@nl

P1433

Q37970727-E0099E9C-F0BD-4D5A-A611-E1E6581DC050

P1476

Q37970727-38CB3837-028D-41F8-8F4C-B7C0E9A5B971

P2093

Q37970727-0A647AF2-7548-4F72-8EF2-8F3469F027BA

Q37970727-0F8F82E1-CE28-42D3-92DF-1A84CE2BAA00

Q37970727-26890DE8-046B-45BF-AFD7-EAFDE341338C

Q37970727-283AB3F5-8A95-442E-B3EA-A600B2AB60BC

Q37970727-303D6529-EA1F-49BD-9D9C-C3175CF192E9

Q37970727-71BAE6A4-3C60-4457-8FCF-CDB92FACB3F6

Q37970727-9011E3CA-56DD-4AE4-BD92-9682A8E1F5C4

Q37970727-91BA6A38-7955-42F7-A4BB-17673CBD4E26

Q37970727-A12A9E01-0759-470A-B47E-1ACC115727D8

Q37970727-C0C880EB-AD65-468B-AAD6-8F16A1F91B98

P2860

Q37970727-05B74215-AC10-4DB9-A630-C8A27E96A5A8

Q37970727-0934A37C-2433-424A-A515-5418015491C3

Q37970727-0F779BF7-18BA-4E89-8433-64C5BCDD1BC9

Q37970727-1582CAEA-64A9-4BCA-B7BE-44C9575CB26E

Q37970727-2481D765-0C14-4238-B4F6-4C729592DA37

Q37970727-294360C5-AD6D-43B5-8F0E-42891D4EE486

Q37970727-2973E758-87B0-4C69-B775-4134171EC97D

Q37970727-36DBC92F-79AA-43B9-843D-5D9F699ABC71

Q37970727-38AF971B-F0DE-467D-A7F9-F6D2DCA0D119

Q37970727-4F8E0399-65ED-41C0-BDB5-FAAC817D0EB3

P304

Q37970727-E29CDA05-B9CD-4296-B86D-88D4394C89AD

P31

Q37970727-8842F760-119B-4ABE-A6AA-8A8E55D99E72

P356

Q37970727-6EEED425-2CCB-4DBA-AD46-12AC1DB1274B

P407

Q37970727-BDC5F807-51A5-43E6-94AE-F2649E258910

P478

Q37970727-451AC53B-619F-4E56-8A64-09CE39653D07

P50

Q37970727-B2C4DADA-3944-4501-B7AC-7BF00DE186E2

Q37970727-E2422027-221D-42D3-9AE1-39C9D8431AB1

P577

Q37970727-87A59578-2A99-4690-8D01-00237994CF2A

P5875

Q37970727-748278AC-0E33-4DB9-A69F-893B56F6919F

P698

Q37970727-59BA15D2-3B49-4A64-A06F-BE888218D5F8

P921

Q37970727-9ad33dc3-77cd-4d31-8551-f88b54a3fb5f

P356

J.1749-6632.2011.06349.X

P1433

Annals of the New York Academy of Sciences

P1476

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.

@en

P2093

Akiko Shimamura

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

Cornelia Zeidler

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

Elizabeth Kerr

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

Jean Donadieu

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

Johanna Rommens

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

John Dodge

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

Johnson M Liu

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

Jutta Koglmeier

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

Liesbeth Siderius

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

Marco Cipolli

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

P2860

The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes

Shwachman-Diamond syndrome is associated with low-turnover osteoporosis

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

Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.

The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type

Proposals for the classification of the myelodysplastic syndromes

Fatal cyclophosphamide-induced congestive heart failure in a 10-year-old boy with Shwachman-Diamond syndrome and severe bone marrow failure treated with allogeneic bone marrow transplantation

Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar.

Shwachman's syndrome: pathomorphosis and long-term outcome.

CONGENITAL HYPOPLASIA OF THE EXOCRINE PANCREAS.

P304

40-55

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

P31

scholarly article

P356

10.1111/J.1749-6632.2011.06349.X

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

P407

P478

1242

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

P50

Taco W Kuijpers

P577

2011-12-01T00:00:00Z

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

P5875

51907973

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

P698

22191555

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

P921