Published in Eur J Pediatr on July 10, 2007
Determination of ATP and ADP Secretion from Human and Mouse Platelets by an HPLC Assay. Transfus Med Hemother (2013) 0.84
Platelets, a reliable source for peripheral Alzheimer's disease biomarkers? Acta Neuropathol Commun (2014) 0.82
Identification of rare variants from exome sequence in a large pedigree with autism. Hum Hered (2013) 0.82
A proteomics study reveals a predominant change in MaoB expression in platelets of healthy volunteers after high protein meat diet: relationship to the methylation cycle. J Neural Transm (Vienna) (2011) 0.80
Describing the hexapeptide identity platform between the influenza A H5N1 and Homo sapiens proteomes. Biologics (2010) 0.79
Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. Pigment Cell Res (2006) 3.28
Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors. Am J Hum Genet (2005) 2.44
Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles. Bioessays (2004) 2.40
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Nat Genet (2000) 2.08
Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome. Mol Genet Metab (1999) 1.91
The structure of the GPIb-filamin A complex. Blood (2005) 1.83
Platelets: physiology and biochemistry. Semin Thromb Hemost (2005) 1.72
Glanzmann thrombasthenia. Orphanet J Rare Dis (2006) 1.65
Platelet adhesion signalling and the regulation of thrombus formation. J Cell Sci (2004) 1.65
The gray platelet syndrome: clinical spectrum of the disease. Blood Rev (2006) 1.59
The P2 receptors and congenital platelet function defects. Semin Thromb Hemost (2005) 1.53
Molecular defects that affect platelet dense granules. Semin Thromb Hemost (2004) 1.52
Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome. Haematologica (2002) 1.46
Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am J Med Genet (2002) 1.39
Molecular bases of defective signal transduction in the platelet P2Y12 receptor of a patient with congenital bleeding. Proc Natl Acad Sci U S A (2003) 1.38
Serotonin transporter gene variants and behavior: a comprehensive review. Curr Drug Targets (2006) 1.29
Platelet secretory mechanisms. Semin Thromb Hemost (2004) 1.24
Arg60 to Leu mutation of the human thromboxane A2 receptor in a dominantly inherited bleeding disorder. J Clin Invest (1994) 1.23
Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation. Hum Mol Genet (2003) 1.12
Biology and pharmacology of the platelet P2Y12 receptor. Curr Pharm Des (2006) 1.06
Qualitative disorders of platelets and megakaryocytes. J Thromb Haemost (2005) 1.05
The pituitary adenylate cyclase-activating polypeptide is a physiological inhibitor of platelet activation. J Clin Invest (2004) 0.99
Congenital platelet disorders: overview of their mechanisms, diagnostic evaluation and treatment. Haemophilia (2006) 0.96
Ontogeny of brain and blood serotonin levels in 5-HT receptor knockout mice: potential relevance to the neurobiology of autism. J Neurochem (2006) 0.96
5-Hydroxytryptamine and its role in migraine. Eur Neurol (1991) 0.95
Genetic abnormalities of Bernard-Soulier syndrome. Int J Hematol (2002) 0.93
Altered cytoskeleton organization in platelets from patients with MYH9-related disease. J Thromb Haemost (2005) 0.92
Inherited defects in platelet signaling mechanisms. Semin Thromb Hemost (2004) 0.90
Inherited bleeding disorders: disorders of platelet adhesion and aggregation. Crit Rev Oncol Hematol (2004) 0.89
Genetic variation of the extra-large stimulatory G protein alpha-subunit leads to Gs hyperfunction in platelets and is a risk factor for bleeding. Thromb Haemost (2001) 0.86
Platelet function deficiency in Duchenne muscular dystrophy. Neuromuscul Disord (1998) 0.85
The current status of the platelet 5-HT(2A) receptor in depression. J Affect Disord (2000) 0.85
Mutations of the platelet thromboxane A2 (TXA2) receptor in patients characterized by the absence of TXA2-induced platelet aggregation despite normal TXA2 binding activity. Thromb Haemost (1999) 0.85
Studies on the serotonin transporter in platelets. Experientia (1988) 0.85
Platelet adhesion: structural and functional diversity of short dystrophin and utrophins in the formation of dystrophin-associated-protein complexes related to actin dynamics. Thromb Haemost (2005) 0.78
Impaired primary hemostasis with normal platelet function in Duchenne muscular dystrophy during highly-invasive spinal surgery. Neuromuscul Disord (2005) 0.78
Blood platelets as neuronal models: use and limitations. Clin Neuropharmacol (1986) 0.78
GABA and glutamate transporters are expressed in human platelets. Brain Res Mol Brain Res (2005) 0.78
Role of dystrophins and utrophins in platelet adhesion process. Br J Haematol (2006) 0.77
G protein diseases: newly recognized causes of metabolic encephalopathy. Eur J Paediatr Neurol (2003) 0.76
Evaluation of mild bleeding disorders and easy bruising. Blood Rev (1994) 0.76
Five (un)easy pieces: the MYH9-related giant platelet syndromes. Haematologica (2002) 0.76
Altered protein kinase C and protein kinase A activities in erythrocyte membrane, platelets and lymphocytes of Duchenne muscular dystrophy (DMD) patients. Clin Chim Acta (1990) 0.76
Deficiency of platelet glass bead adhesion and platelet membrane glycoprotein IV (CD36) in Duchenne muscular dystrophy. Thromb Haemost (1998) 0.76
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet (2012) 2.80
Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation. Hum Mol Genet (2003) 1.12
The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure. Blood (2005) 1.08
Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation. Hum Mol Genet (2002) 1.03
Thrombogenicity of beta 2-glycoprotein I-dependent antiphospholipid antibodies in a photochemically induced thrombosis model in the hamster. Blood (2002) 1.03
The pituitary adenylate cyclase-activating polypeptide is a physiological inhibitor of platelet activation. J Clin Invest (2004) 0.99
GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets. J Clin Endocrinol Metab (2008) 0.90
Molecular cloning and characterization of the GATA1 cofactor human FOG1 and assessment of its binding to GATA1 proteins carrying D218 substitutions. Hum Genet (2002) 0.90
PACAP and its receptor VPAC1 regulate megakaryocyte maturation: therapeutic implications. Blood (2007) 0.90
Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets. Hum Mol Genet (2002) 0.89
Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction. PLoS One (2012) 0.89
DNA methylation analysis of Homeobox genes implicates HOXB7 hypomethylation as risk factor for neural tube defects. Epigenetics (2015) 0.85
Regulator of G-protein signaling 18 controls megakaryopoiesis and the cilia-mediated vertebrate mechanosensory system. FASEB J (2012) 0.84
Functional studies and proteomics in platelets and fibroblasts reveal a lysosomal defect with increased cathepsin-dependent apoptosis in ATP1A3 defective alternating hemiplegia of childhood. J Proteomics (2013) 0.81
An integrated proteomics and genomics analysis to unravel a heterogeneous platelet secretion defect. J Proteomics (2011) 0.81
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. Hum Mol Genet (2007) 0.81
Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state. J Clin Endocrinol Metab (2008) 0.78
Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect. Genet Med (2012) 0.78
NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish. Hum Mol Genet (2012) 0.77
No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity. J Hum Genet (2012) 0.76
Fibrinolysis in the hemolytic uremic syndrome. Pediatr Nephrol (2002) 0.76
Mechanisms of action and targets for actual and future antiplatelet drugs. Mini Rev Med Chem (2006) 0.75
Obsessive-compulsive behavior as presenting symptom of primary antiphospholipid syndrome. Psychosom Med (2013) 0.75
Severe gastrointestinal bleeding and thrombocytopenia in a child with an anti-GATA1 autoantibody. Pediatr Res (2010) 0.75
An estimation of the incidence and demographic picture of the major hemoglobinopathies in Belgium (from a confidential inquiry). Hemoglobin (2008) 0.75
Translocation t(1;11)(q21;q23): a new finding in congenital acute myeloid leukemia. Leuk Lymphoma (2013) 0.75
Shielding the front-strand beta 3 of the von Willebrand factor A1 domain inhibits its binding to platelet glycoprotein Ibalpha. Blood (2002) 0.75
Pulmonary embolism in children. Semin Thromb Hemost (2011) 0.75