|
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
MRI of the brain was performed in nine patients (7 males, age range 7-37 years) with SDS and mutations in the SBDS gene and in 18 age- and gender-matched controls.
|
18478597 |
2008 |
|
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Some cases of common variable immunodeficiency may be due to a mutation in the SBDS gene of Shwachman-Diamond syndrome.
|
18190602 |
2008 |
|
Shwachman syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Hematologically important mutations: Shwachman-Diamond syndrome.
|
17916435 |
2008 |
|
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Deficiencies in the SBDS gene result in Shwachman-Diamond syndrome (SDS), an inherited bone marrow failure syndrome associated with leukemia predisposition.
|
18324336 |
2008 |
|
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The present study assessed prevalence and determinants of osteopenia and osteoporosis in patients with SDS and disease-causing mutations in the SBDS gene.
|
17920346 |
2007 |
|
Shwachman syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
The addition of wild-type SBDS complements the actinomycin D hypersensitivity of SDS patient cells.
|
17475909 |
2007 |
|
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we describe the molecular characterization of the first documented gross deletion in the SBDS gene, in a 4-year-old Portuguese girl with SDS.
|
17376717 |
2007 |
|
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Shwachman-Bodian-Diamond syndrome (SBDS) gene is a causative gene for Shwachman-Diamond syndrome, an autosomal recessive disorder with exocrine pancreatic insufficiency, bone marrow dysfunction and skeletal dysplasia.
|
17400792 |
2007 |
|
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we report heterozygosity for the 258 + 2 T>C SBDS gene mutation previously identified in SDS patients in 4 of 91 patients with apparently acquired aplastic anemia (AA) but not in 276 ethnically matched controls (Fisher exact test, P < .004).
|
17478638 |
2007 |
|
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The SDS disease locus was mapped to chromosome 7q11, and disease-associated mutations were reported in the Shwachman-Bodian-Diamond syndrome (SBDS) gene.
|
17379068 |
2007 |
|
Shwachman syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The addition of wild-type SBDS complements the actinomycin D hypersensitivity of SDS patient cells.
|
17475909 |
2007 |
|
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The association of SDS and type 1 diabetes mellitus seems to be coincidental and not associated to distinct mutations of the SBDS gene.
|
17106217 |
2006 |
|
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We performed genetic analysis of 13 Japanese patients with presumed SDS and found that 10 of them had SBDS mutations.
|
16867904 |
2006 |
|
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Shwachman-Bodian-Diamond syndrome (SBDS) protein family occurs widely in nature, although its function has not been determined.
|
16529906 |
2006 |
|
Shwachman syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome.
|
15701631 |
2005 |
|
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These data are consistent with absence of homozygosity for the common K62X truncation mutation in individuals with SDS, indicating that the SDS disease phenotype is a consequence of expression of hypomorphic SBDS alleles and that complete loss of SBDS function is likely to be lethal.
|
15701631 |
2005 |
|
Shwachman syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
The causative SBDS gene was sequenced in 20 of 23 unrelated patients with clinical SDS.
|
15769891 |
2005 |
|
Shwachman syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
We characterized Shwachman-Bodian-Diamond syndrome (SBDS) protein expression and intracellular localization in 7 patients with SDS and healthy controls.
|
15860664 |
2005 |
|
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Shwachman Bodian Diamond syndrome gene ( SBDS ) was sequenced to search for mutations in patients with no deleterious CFTR mutations and steatorrhea to determine if any had unrecognized Shwachman-Diamond syndrome (SDS).
|
15870673 |
2005 |
|
Shwachman syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The Shwachman-Diamond SBDS protein localizes to the nucleolus.
|
15860664 |
2005 |
|
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The SDS disease locus was mapped to chromosome 7q11 and disease-associated mutations were reported in the Shwachman-Bodian-Diamond syndrome (SBDS) gene.
|
15776428 |
2005 |
|
Shwachman syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The causative SBDS gene was sequenced in 20 of 23 unrelated patients with clinical SDS.
|
15769891 |
2005 |
|
Shwachman syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
SBDS gene analysis confirmed SBDS in both patients.
|
16303713 |
2005 |
|
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.
|
14749921 |
2004 |
|
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The results suggest that the characteristic skeletal changes are present in all patients with SDS and SBDS mutations, but their severity and localization varies with age.
|
14984468 |
2004 |