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Literature DB >> 20011639

Inherited platelet disorders: thrombocytopenias and thrombocytopathies.

Giovanna D'Andrea¹, Massimiliano Chetta, Maurizio Margaglione.

Abstract

Entities: Disease

Keywords: Inherited platelet disorders; thrombocytopathies; thrombocytopenias

Mesh：

Year: 2009 PMID： 20011639 PMCID： PMC2782805 DOI： 10.2450/2009.0078-08

Source DB: PubMed Journal: Blood Transfus ISSN： 1723-2007 Impact factor: 3.443

× No keyword cloud information.

87 in total

1. Thrombopoietin in patients with congenital thrombocytopenia and absent radii: elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin.

Authors: M Ballmaier; H Schulze; G Strauss; K Cherkaoui; N Wittner; S Lynen; S Wolters; J Bogenberger; K Welte
Journal: Blood Date: 1997-07-15 Impact factor: 22.113

2. Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome.

Authors: M Donnér; M Schwartz; K U Carlsson; L Holmberg
Journal: Blood Date: 1988-12 Impact factor: 22.113

3. Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome.

Authors: S Certain; F Barrat; E Pastural; F Le Deist; J Goyo-Rivas; N Jabado; M Benkerrou; R Seger; E Vilmer; G Beullier; K Schwarz; A Fischer; G de Saint Basile
Journal: Blood Date: 2000-02-01 Impact factor: 22.113

4. Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.

Authors: M L Budarf; B A Konkle; L B Ludlow; D Michaud; M Li; D J Yamashiro; D McDonald-McGinn; E H Zackai; D A Driscoll
Journal: Hum Mol Genet Date: 1995-04 Impact factor: 6.150

Review 5. The Wiskott-Aldrich syndrome: disordered actin dynamics in haematopoietic cells.

Authors: A J Thrasher; S Burns; R Lorenzi; G E Jones
Journal: Immunol Rev Date: 2000-12 Impact factor: 12.988

Review 6. Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome.

Authors: W Introne; R E Boissy; W A Gahl
Journal: Mol Genet Metab Date: 1999-10 Impact factor: 4.797

7. Ligand binding to integrin alphaIIbbeta3 is dependent on a MIDAS-like domain in the beta3 subunit.

Authors: E C Tozer; R C Liddington; M J Sutcliffe; A H Smeeton; J C Loftus
Journal: J Biol Chem Date: 1996-09-06 Impact factor: 5.157

8. Genetic characterization of patients with Bernard-Soulier syndrome and their relatives from Southern Iran.

Authors: A Afrasiabi; A Lecchi; A Artoni; M Karimi; E Ashouri; F Peyvandi; P M Mannucci
Journal: Platelets Date: 2007-09 Impact factor: 3.862

9. Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR).

Authors: P Strippoli; A Savoia; A Iolascon; R Tonelli; M Savino; P Giordano; M D'Avanzo; F Massolo; F Locatelli; C Borgna; D De Mattia; L Zelante; G Paolucci; G P Bagnara
Journal: Br J Haematol Date: 1998-11 Impact factor: 6.998

10. The 11q terminal deletion disorder: a prospective study of 110 cases.

Authors: Paul D Grossfeld; Teresa Mattina; Zona Lai; Remi Favier; Ken Lyons Jones; Finbarr Cotter; Christopher Jones
Journal: Am J Med Genet A Date: 2004-08-15 Impact factor: 2.802

15 in total

1. Prevalence of Low Platelet Count and Identification of Associating Determinants and Genetic Polymorphism in Healthy Individuals of Upper Assam, India.

Authors: Nasreen Sultan; Santanu Kumar Sharma
Journal: Indian J Hematol Blood Transfus Date: 2018-09-08 Impact factor: 0.900

2. Innovative use of recombinant activated factor VII during physical rehabilitation in an Italian child with Glanzmann's thromboasthenia.

Authors: Paola Giordano; Giuseppe Lassandro; Riccardina Tesse; Stefania Longo; Federica Valente; Anna Rita Cappiello; Antonio Coppola
Journal: Blood Transfus Date: 2012-07-04 Impact factor: 3.443

3. Severe congenital thrombocytopaenia--first clinical manifestation of Noonan syndrome.

Authors: Paula Nunes; Sara Aguilar; Sara Noéme Prado; Maria João Palaré; Anabela Ferrão; Anabela Morais
Journal: BMJ Case Rep Date: 2012-03-20

4. Platelet Count Does Not Predict Bleeding in Cirrhotic Patients: Results from the PRO-LIVER Study.

Authors: S Basili; V Raparelli; L Napoleone; G Talerico; G R Corazza; F Perticone; D Sacerdoti; A Andriulli; A Licata; A Pietrangelo; A Picardi; G Raimondo; F Violi
Journal: Am J Gastroenterol Date: 2017-12-19 Impact factor: 10.864

Review 5. Utility of microfluidic devices to study the platelet-endothelium interface.

Authors: Jevgenia Zilberman-Rudenko; Joanna L Sylman; Kathleen S Garland; Cristina Puy; Andrew D Wong; Peter C Searson; Owen J T McCarty
Journal: Platelets Date: 2017-03-30 Impact factor: 3.862

6. Prevalence, burden and treatment effects of vaginal bleeding in women with (suspected) congenital platelet disorders throughout life: a cross-sectional study.

Authors: Marieke C Punt; Nienke D Ruigrok; Kitty W M Bloemenkamp; Nanda Uitslager; Rolf T Urbanus; Evelyn Groot; Idske C L Kremer Hovinga; Roger E G Schutgens; Karin P M van Galen
Journal: Br J Haematol Date: 2021-09-18 Impact factor: 8.615

Review 10. Platelet transfusion for patients with platelet dysfunction: effectiveness, mechanisms, and unanswered questions.

Authors: Robert H Lee; Raj S Kasthuri; Wolfgang Bergmeier
Journal: Curr Opin Hematol Date: 2020-11 Impact factor: 3.218