Found: 18
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Anti-vWf Antibodies Induce GPIbα and FcγRII Mediated Platelet Aggregation Only at Low Shear Forces.
- Published in:
- Journal of Thrombosis & Thrombolysis, 2001, v. 12, n. 3, p. 249, doi. 10.1023/A:1015279109247
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- Publication type:
- Article
What’s new in using platelet research? To unravel thrombopathies and other human disorders.
- Published in:
- European Journal of Pediatrics, 2007, v. 166, n. 12, p. 1203, doi. 10.1007/s00431-007-0543-7
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- Publication type:
- Article
No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 4, p. 277, doi. 10.1038/jhg.2012.1
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- Publication type:
- Article
Methylation Defect in Imprinted Genes Detected in Patients with an Albright's Hereditary Osteodystrophy Like Phenotype and Platelet Gs Hypofunction.
- Published in:
- PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0038579
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- Article
GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets.
- Published in:
- 2008
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- Publication type:
- journal article
Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state.
- Published in:
- 2008
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- Publication type:
- journal article
Molecular cloning and characterization of the GATA1 cofactor human FOG1 and assessment of its binding to GATA1 proteins carrying D218 substitutions.
- Published in:
- Human Genetics, 2003, v. 112, n. 1, p. 42, doi. 10.1007/s00439-002-0832-1
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- Publication type:
- Article
A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 47, n. 1, p. 9, doi. 10.1002/jmd2.12030
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- Publication type:
- Article
Platelet studies in autism spectrum disorder patients and first-degree relatives.
- Published in:
- Molecular Autism, 2015, v. 6, p. 1, doi. 10.1186/s13229-015-0051-y
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- Publication type:
- Article
Regulator of G-protein signaling 18 controls megakaryopoiesis and the cilia-mediated vertebrate mechanosensory system.
- Published in:
- FASEB Journal, 2012, v. 26, n. 5, p. 2125, doi. 10.1096/fj.11-198739
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- Publication type:
- Article
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.
- Published in:
- Science Translational Medicine, 2016, v. 8, n. 328, p. 1, doi. 10.1126/scitranslmed.aad7666
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- Publication type:
- Article
Unravelling the disease mechanism for TSPYL1 deficiency.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 20, p. 3431, doi. 10.1093/hmg/ddaa233
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- Publication type:
- Article
NPC1 defect results in abnormal platelet formation and function: studies in Niemann–Pick disease type C1 patients and zebrafish.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 1, p. 61, doi. 10.1093/hmg/dds401
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- Publication type:
- Article
Methylome analysis for haemophilia A intron 22 inversion patients with and without inhibitors: A pilot study.
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- Haemophilia, 2022, v. 28, n. 6, p. e248, doi. 10.1111/hae.14651
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- Publication type:
- Article
Increased Gs signalling in platelets and impaired collagen activation, due to a defect in the dystrophin gene, result in increased blood loss during spinal surgery.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 3, p. 357, doi. 10.1093/hmg/ddm312
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- Publication type:
- Article
Functional polymorphisms in the paternally expressed XLαs and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 10, p. 1121, doi. 10.1093/hmg/ddg130
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- Publication type:
- Article
Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsα deficiency in platelets.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 22, p. 2741, doi. 10.1093/hmg/11.22.2741
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- Publication type:
- Article
Different substitutions at residueD218 of the X-linked transcription factor GATA1 lead to alteredclinical severity of macrothrombocytopenia and anemia and are associatedwith variable skewed X inactivation.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 2, p. 147, doi. 10.1093/hmg/11.2.147
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- Publication type:
- Article