Condition: SHWACHMAN-DIAMOND SYNDROME 1


rs113993993 in SBDS gene and SHWACHMAN-DIAMOND SYNDROME 1 PMID 24629175 2014 Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome.

PMID 24388329 2014 Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry.

PMID 21695142 2011 Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome.

PMID 14749921 2004 Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.

PMID 12496757 2003 Mutations in SBDS are associated with Shwachman-Diamond syndrome.

PMID 19148133 2009 The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 22935661 2013 Shwachman-Diamond syndrome: diarrhea, no longer required?

PMID 22934832 2012 Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome.

PMID 15860664 2005 The Shwachman-Diamond SBDS protein localizes to the nucleolus.

PMID 22191555 2011 Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.

PMID 24898207 2014 Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.

PMID 21536732 2011 Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.

rs373730800 in SBDS;TYW1 gene and SHWACHMAN-DIAMOND SYNDROME 1 PMID 24898207 2014 Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.

PMID 12496757 2003 Mutations in SBDS are associated with Shwachman-Diamond syndrome.

PMID 22191555 2011 Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.

PMID 21536732 2011 Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.

rs1555354198 in SRP54 gene and SHWACHMAN-DIAMOND SYNDROME 1 PMID 28972538 2017 Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.

rs28942099 in TYW1;SBDS gene and SHWACHMAN-DIAMOND SYNDROME 1 PMID 22191555 2011 Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.

PMID 12496757 2003 Mutations in SBDS are associated with Shwachman-Diamond syndrome.

PMID 24898207 2014 Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.

PMID 21536732 2011 Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.