Shwachman syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
|
|
|
Shwachman syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
Shwachman syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations in SBDS are associated with Shwachman-Diamond syndrome.
|
12496757 |
2003 |
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SBDS are associated with Shwachman-Diamond syndrome.
|
12496757 |
2003 |
Shwachman syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Mutations in SBDS are associated with Shwachman-Diamond syndrome.
|
12496757 |
2003 |
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 |
CausalMutation
|
disease |
CLINVAR |
A previous study in SDS patients largely of European ancestry found that most SBDS mutations occurred within a approximately 240-bp region of exon 2 and resulted from gene conversion due to recombination with a pseudogene, SBDSP.
|
14749921 |
2004 |
Shwachman syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A previous study in SDS patients largely of European ancestry found that most SBDS mutations occurred within a approximately 240-bp region of exon 2 and resulted from gene conversion due to recombination with a pseudogene, SBDSP.
|
14749921 |
2004 |
Shwachman syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A previous study in SDS patients largely of European ancestry found that most SBDS mutations occurred within a approximately 240-bp region of exon 2 and resulted from gene conversion due to recombination with a pseudogene, SBDSP.
|
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 |
Shwachman syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The presence (or absence) of SBDS mutations may define subgroups of patients with SDS who share distinct clinical features or natural history.
|
15284109 |
2004 |
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The presence (or absence) of SBDS mutations may define subgroups of patients with SDS who share distinct clinical features or natural history.
|
15284109 |
2004 |
Shwachman syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
The presence (or absence) of SBDS mutations may define subgroups of patients with SDS who share distinct clinical features or natural history.
|
15284109 |
2004 |
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome.
|
15342903 |
2004 |
Shwachman syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome.
|
15342903 |
2004 |
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a case of SDS with an i(7)(q10) in the BM and two different mutations in the SBDS gene.
|
15474150 |
2004 |
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 |
Biomarker
|
disease |
BEFREE |
The causative SBDS gene was sequenced in 20 of 23 unrelated patients with clinical SDS.
|
15769891 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
The Shwachman-Diamond SBDS protein localizes to the nucleolus.
|
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 |
Biomarker
|
disease |
BEFREE |
SBDS gene analysis confirmed SBDS in both patients.
|
16303713 |
2005 |