Current Knowledge on Inherited Platelet Function Disorders

[1]  Y. Shim.  Genetic classification and confirmation of inherited platelet disorders: current status in Korea , 2020, Korean journal of pediatrics.

[2]  R. Zotz,et al.  The International Prospective Glanzmann Thrombasthenia Registry: Pediatric Treatment and Outcomes , 2019, TH Open.

[3]  J. Thachil,et al.  How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults , 2018, British journal of haematology.

[4]  Adrienne Lee,et al.  Inherited platelet functional disorders: General principles and practical aspects of management. , 2018, Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis.

[5]  J. Ha,et al.  A Case of Jacobsen Syndrome Presenting with a Huge Cephalhematoma and Thrombocytopenia after Birth , 2018 .

[6]  M. Holinstat.  Normal platelet function , 2017, Cancer and Metastasis Reviews.

[7]  N. Ahmed,et al.  Glanzmann Thrombasthenia: A Clinicopathological Profile. , 2016, Journal of the College of Physicians and Surgeons--Pakistan : JCPSP.

[8]  Ernest Turro,et al.  Inherited platelet disorders: toward DNA-based diagnosis. , 2016, Blood.

[9]  Vani Rajashekaraiah,et al.  Platelet disorders: an overview , 2015, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

[10]  S. Israels,et al.  Laboratory testing for platelet function disorders , 2015, International journal of laboratory hematology.

[11]  R. Abbate,et al.  Platelet function tests: a comparative review , 2015, Vascular health and risk management.

[12]  P. Gresele.  Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH , 2015, Journal of thrombosis and haemostasis : JTH.

[13]  C. Gachet,et al.  Diagnosis of suspected inherited platelet function disorders: results of a worldwide survey , 2014, Journal of thrombosis and haemostasis : JTH.

[14]  A. Pastore,et al.  Spectrum of the Mutations in Bernard–Soulier Syndrome , 2014, Human mutation.

[15]  P. Nurden,et al.  Congenital platelet disorders and understanding of platelet function , 2014, British journal of haematology.

[16]  B. Moiz,et al.  BSS misdiagnosed as ITP. , 2013, Blood.

[17]  A. Savoia,et al.  Inherited thrombocytopenias frequently diagnosed in adults , 2013, Journal of thrombosis and haemostasis : JTH.

[18]  P. Nurden,et al.  C560Rβ3 caused platelet integrin αIIbβ3 to bind fibrinogen continuously, but resulted in a severe bleeding syndrome and increased murine mortality , 2013, Journal of thrombosis and haemostasis : JTH.

[19]  B. Payrastre,et al.  Inherited platelet disorders and oral health. , 2013, Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology.

[20]  J. Mahlangu,et al.  Guidelines for the management of hemophilia , 2013, Haemophilia : the official journal of the World Federation of Hemophilia.

[21]  M. Cattaneo,et al.  Congenital defects of platelet function , 2012, Platelets.

[22]  Hee-Jin Kim,et al.  Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia , 2012, Pediatric blood & cancer.

[23]  U. Seligsohn.  Treatment of inherited platelet disorders , 2012, Haemophilia : the official journal of the World Federation of Hemophilia.

[24]  A. Nurden,et al.  Inherited platelet disorders , 2012, Haemophilia : the official journal of the World Federation of Hemophilia.

[25]  P. Nurden,et al.  Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. , 2011, Blood.

[26]  Karen Vanhoorelbeke,et al.  Platelets at work in primary hemostasis. , 2011, Blood reviews.

[27]  J. Mullikin,et al.  NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules , 2011, Nature Genetics.

[28]  S. Israels,et al.  Platelet disorders in children: A diagnostic approach , 2011, Pediatric blood & cancer.

[29]  A. Nurden.  Platelets, inflammation and tissue regeneration , 2011, Thrombosis and Haemostasis.

[30]  A. Gale.  Continuing Education Course #2: Current Understanding of Hemostasis , 2011, Toxicologic pathology.

[31]  S. Nagata,et al.  Calcium-dependent phospholipid scrambling by TMEM16F , 2010, Nature.

[32]  Nancy F. Hansen,et al.  Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. , 2010, Blood.

[33]  R. Liesner,et al.  Modern management of severe platelet function disorders , 2010, British journal of haematology.

[34]  H. Dauerman,et al.  Platelet functions beyond hemostasis , 2009, Journal of thrombosis and haemostasis : JTH.

[35]  M. Margaglione,et al.  Inherited platelet disorders: thrombocytopenias and thrombocytopathies. , 2009, Blood transfusion = Trasfusione del sangue.

[36]  Jun Wang,et al.  Bernard-Soulier syndrome: an inherited platelet disorder. , 2009, Archives of pathology & laboratory medicine.

[37]  V. Dalm,et al.  Jacobsen Syndrome , 2020, Encyclopedia of Medical Immunology.

[38]  T. Quiroga,et al.  The level of laboratory testing required for diagnosis or exclusion of a platelet function disorder using platelet aggregation and secretion assays. , 2009, Seminars in thrombosis and hemostasis.

[39]  J. Kaplan,et al.  Chediak-Higashi syndrome , 2008, Current opinion in hematology.

[40]  G. Di Minno,et al.  Desmopressin in inherited disorders of platelet function , 2007, Haemophilia : the official journal of the World Federation of Hemophilia.

[41]  S. Watson,et al.  A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO , 2006, British journal of haematology.

[42]  F. Lanza.  Bernard-Soulier syndrome (Hemorrhagiparous thrombocytic dystrophy) , 2006, Orphanet journal of rare diseases.

[43]  M. Kratzer.  Platelet function analyzer (PFA)‐100® closure time in the evaluation of platelet disorders and platelet function: a rebuttal , 2006, Journal of thrombosis and haemostasis : JTH.

[44]  F. Hill,et al.  Distinguishing between type 2B and pseudo‐von Willebrand disease and its clinical importance , 2006, British journal of haematology.

[45]  P. Mannucci,et al.  Glanzmann thrombasthenia and Bernard-Soulier syndrome in south Iran. , 2005, Clinical and laboratory haematology.

[46]  S. Lee,et al.  A Case of Gray Platelet Syndrome , 2005 .

[47]  W. Gahl,et al.  Molecular defects that affect platelet dense granules. , 2004, Seminars in thrombosis and hemostasis.

[48]  K. Jones,et al.  The 11q terminal deletion disorder: A prospective study of 110 cases , 2004, American journal of medical genetics. Part A.

[49]  W. Vainchenker,et al.  FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia. , 2004, The Journal of clinical investigation.

[50]  P. Comfurius,et al.  Scott syndrome, a bleeding disorder caused by defective scrambling of membrane phospholipids. , 2004, Biochimica et biophysica acta.

[51]  R. Favier,et al.  Paris-Trousseau syndrome : clinical, hematological, molecular data of ten new cases , 2003, Thrombosis and Haemostasis.

[52]  M. Makris,et al.  Immunization of patients with bleeding disorders , 2003, Haemophilia : the official journal of the World Federation of Hemophilia.

[53]  C. Hayward.  Inherited platelet disorders , 2003, Current opinion in hematology.

[54]  R. Spritz,et al.  The Hermansky-Pudlak Syndrome 1 (HPS1) and HPS4 Proteins Are Components of Two Complexes, BLOC-3 and BLOC-4, Involved in the Biogenesis of Lysosome-related Organelles* , 2003, Journal of Biological Chemistry.

[55]  J. Ware,et al.  Molecular bases of defective signal transduction in the platelet P2Y12 receptor of a patient with congenital bleeding , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[56]  J. Kaplan,et al.  Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder. , 2002, Current molecular medicine.

[57]  M. Berndt,et al.  The Vascular Biology of the Glycoprotein Ib-IX-V Complex , 2001, Thrombosis and Haemostasis.

[58]  J. White,et al.  Paris‐Trousseau syndrome platelets in a child with Jacobsen's syndrome , 2001, American journal of hematology.

[59]  Shapiro,et al.  Platelet function disorders , 2000, Haemophilia : the official journal of the World Federation of Hemophilia.

[60]  C. Gachet,et al.  ADP receptors and clinical bleeding disorders. , 1999, Arteriosclerosis, thrombosis, and vascular biology.

[61]  M. Berndt,et al.  Bernard-Soulier syndrome , 1998, Haematologica.

[62]  S. R. Rose,et al.  Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases. , 1996, Journal of medical genetics.

[63]  D. S. Neblock,et al.  Analysis of GPIIb/IIIa receptor number by quantification of 7E3 binding to human platelets. , 1996, Blood.

[64]  B. Cho,et al.  Chediak-Higashi Syndrome with Hyperpigmentation , 1996 .

[65]  S. Narumiya,et al.  Two thromboxane A2 receptor isoforms in human platelets. Opposite coupling to adenylyl cyclase with different sensitivity to Arg60 to Leu mutation. , 1996, The Journal of clinical investigation.

[66]  W. Vainchenker,et al.  A new congenital dysmegakaryopoietic thrombocytopenia (Paris-Trousseau) associated with giant platelet alpha-granules and chromosome 11 deletion at 11q23. , 1995, Blood.

[67]  G. Evans,et al.  Clinical and molecular characterization of patients with distal 11q deletions. , 1995, American journal of human genetics.

[68]  Weiss Hj.  Scott syndrome: a disorder of platelet coagulant activity. , 1994 .

[69]  S. Narumiya,et al.  Arg60 to Leu mutation of the human thromboxane A2 receptor in a dominantly inherited bleeding disorder. , 1994, The Journal of clinical investigation.

[70]  G. Roth,et al.  Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor , 1993 .

[71]  P. Mannucci,et al.  Identification of a new congenital defect of platelet function characterized by severe impairment of platelet responses to adenosine diphosphate. , 1992, Blood.

[72]  J. Miller,et al.  Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease. , 1991, Proceedings of the National Academy of Sciences of the United States of America.

[73]  C. Summers,et al.  Albinism and Hermansky-Pudlak syndrome in Puerto Rico. , 1990, Boletin de la Asociacion Medica de Puerto Rico.

[74]  H. Weiss,et al.  Pseudo-von Willebrand's disease. An intrinsic platelet defect with aggregation by unmodified human factor VIII/von Willebrand factor and enhanced adsorption of its high-molecular-weight multimers. , 1982, The New England journal of medicine.

[75]  P. Mannucci,et al.  Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand's disease. , 1980, The New England journal of medicine.

[76]  H. Weiss,et al.  Isolated deficiency of platelet procoagulant activity. , 1979, The American journal of medicine.

[77]  P. Nurden,et al.  The gray platelet syndrome: clinical spectrum of the disease. , 2007, Blood reviews.

[78]  M. Kroll,et al.  Acquired disorders of platelet function. , 2005, Hematology. American Society of Hematology. Education Program.

[79]  I. Do,et al.  A Case of Prenatally Diagnosed Jacobsen syndrome , 2005 .

[80]  E. Battinelli,et al.  Inherited Platelet Disorders. , 2021, Hematology/oncology clinics of North America.

[81]  K. Jurk,et al.  Platelets: Physiology and Biochemistry , 2005, Seminars in thrombosis and hemostasis.

[82]  F Lacombe,et al.  Flow cytometry: its applications in hematology. , 1995, Haematologica.

[83]  J. Philip,et al.  An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study. , 1973, Human heredity.