Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study
出版年份 2014 全文链接
标题
Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study
作者
关键词
Bernard Soulier syndrome, Glanzmann thrombasthenia, Inherited platelet disorders, Chediak-Higashi syndrome, Hermansky Pudlak syndrome, ANKRD26, Congenital amegakaryocytic thrombocytopenia
出版物
Orphanet Journal of Rare Diseases
Volume 9, Issue 1, Pages -
出版商
Springer Nature
发表日期
2014-12-23
DOI
10.1186/s13023-014-0213-6
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- What is the role of genetic testing in the investigation of patients with suspected platelet function disorders?
- (2014) Martina E. Daly et al. BRITISH JOURNAL OF HAEMATOLOGY
- Hermansky-Pudlak syndrome
- (2014) I. Sánchez-Guiu et al. Hamostaseologie
- Spectrum of the Mutations in Bernard-Soulier Syndrome
- (2014) Anna Savoia et al. HUMAN MUTATION
- Diagnosis of suspected inherited platelet function disorders: results of a worldwide survey
- (2014) P. Gresele et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- Evaluation of a whole blood remote platelet function test for the diagnosis of mild bleeding disorders
- (2014) N. Dovlatova et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders
- (2014) Béatrice Saposnik et al. Molecular Genetics & Genomic Medicine
- RUbioSeq: a suite of parallelized pipelines to automate exome variation and bisulfite-seq analyses
- (2013) M. Rubio-Camarillo et al. BIOINFORMATICS
- Chediak-Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype
- (2013) Isabel Sánchez-Guiu et al. EUROPEAN JOURNAL OF HAEMATOLOGY
- Inherited Platelet Function Disorders
- (2013) A. Koneti Rao HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
- They're not your daddy's inherited platelet disorders anymore
- (2013) M. P. Lambert et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- Glanzmann Thrombasthenia: State of the Art and Future Directions
- (2013) Xavier Pillois et al. SEMINARS IN THROMBOSIS AND HEMOSTASIS
- Platelet-Type von Willebrand Disease: New Insights into the Molecular Pathophysiology of a Unique Platelet Defect
- (2013) Harmanpreet Kaur et al. SEMINARS IN THROMBOSIS AND HEMOSTASIS
- Bernard-Soulier Syndrome: An Update
- (2013) Robert Andrews et al. SEMINARS IN THROMBOSIS AND HEMOSTASIS
- Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel
- (2012) B. B. Dawood et al. BLOOD
- International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country
- (2012) A. C. GLEMBOTSKY et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2
- (2011) Tommaso Pippucci et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Guidelines for the laboratory investigation of heritable disorders of platelet function
- (2011) Paul Harrison et al. BRITISH JOURNAL OF HAEMATOLOGY
- Influencia de los polimorfismos de CYP2C19 en la reactividad plaquetaria y el pronóstico en una población no seleccionada de pacientes con síndrome coronario agudo sin elevación del ST
- (2011) Antonio Tello-Montoliu et al. REVISTA ESPANOLA DE CARDIOLOGIA
- What To Do When You Suspect an Inherited Platelet Disorder
- (2011) M. P. Lambert Hematology-American Society of Hematology Education Program
- Novel mutations in the HPS1 gene among Puerto Rican patients
- (2010) C Carmona-Rivera et al. CLINICAL GENETICS
- Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations
- (2010) A. Savoia et al. HAEMATOLOGICA
- Diagnosis of mild platelet function disorders. Reliability and usefulness of light transmission platelet aggregation and serotonin secretion assays
- (2009) Teresa Quiroga et al. BRITISH JOURNAL OF HAEMATOLOGY
- αIIbβ3 integrin: new allelic variants in Glanzmann thrombasthenia, effects onITGA2BandITGB3mRNA splicing, expression, and structure-function
- (2009) Vincent Jallu et al. HUMAN MUTATION
- Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia
- (2009) M. KANNAN et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- Results of a worldwide survey on the assessment of platelet function by light transmission aggregometry: a report from the platelet physiology subcommittee of the SSC of the ISTH
- (2009) M. CATTANEO et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- Novel point mutation in a leucine-rich repeat of the GPIb chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: the N41H variant
- (2008) S. Vettore et al. HAEMATOLOGICA
- Platelet function testing: practice among UK National External Quality Assessment Scheme for Blood Coagulation participants, 2006
- (2008) I Jennings et al. JOURNAL OF CLINICAL PATHOLOGY
- Laboratory Assessment of Familial, Nonthrombocytopenic Mucocutaneous Bleeding: A Definitive Diagnosis Is Often Not Possible
- (2008) Jaime Pereira et al. SEMINARS IN THROMBOSIS AND HEMOSTASIS
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