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Quoted phrase not found in phrase index: "Glanzmann thrombasthenia 2"
Page 1
Inherited bleeding disorders.
Blanchette VS, Sparling C, Turner C. Blanchette VS, et al. Baillieres Clin Haematol. 1991 Apr;4(2):291-332. doi: 10.1016/s0950-3536(05)80162-3. Baillieres Clin Haematol. 1991. PMID: 1912663 Review.
Comparable platelet disorders include the inherited thrombocytopenias with platelet counts less than 20 x 10(9) litre-1 and the homozygous forms of Bernard-Soulier syndrome and Glanzmann's thrombasthenia. The most frequently encountered mild haemostatic abnormalitie …
Comparable platelet disorders include the inherited thrombocytopenias with platelet counts less than 20 x 10(9) litre-1 and the homozygous f …
Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy.
Nurden P, Stritt S, Favier R, Nurden AT. Nurden P, et al. Haematologica. 2021 Feb 1;106(2):337-350. doi: 10.3324/haematol.2020.248153. Haematologica. 2021. PMID: 33147934 Free PMC article. Review.
Inherited platelet disorders resulting from platelet function defects and a normal platelet count cause a moderate or severe bleeding diathesis. Since the description of Glanzmann thrombasthenia resulting from defects of ITGA2B and ITGB3, new inherited platelet diso …
Inherited platelet disorders resulting from platelet function defects and a normal platelet count cause a moderate or severe bleeding diathe …
Lessons from rare maladies: leukocyte adhesion deficiency syndromes.
Harris ES, Weyrich AS, Zimmerman GA. Harris ES, et al. Curr Opin Hematol. 2013 Jan;20(1):16-25. doi: 10.1097/MOH.0b013e32835a0091. Curr Opin Hematol. 2013. PMID: 23207660 Free PMC article. Review.
Recent discoveries merit their review in the context of existing knowledge. RECENT FINDINGS: New activities of beta(2) integrins, which are deficient or absent in LAD-I, and new beta(2) integrin-dependent functions of neutrophils and other leukocytes have recently b …
Recent discoveries merit their review in the context of existing knowledge. RECENT FINDINGS: New activities of beta(2) integrins, whi …
Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations.
Zafarghandi Motlagh F, Fallah MS, Bagherian H, Shirzadeh T, Ghasri S, Dabbagh S, Jamali M, Salehi Z, Abiri M, Zeinali S. Zafarghandi Motlagh F, et al. Orphanet J Rare Dis. 2019 Apr 27;14(1):87. doi: 10.1186/s13023-019-1042-4. Orphanet J Rare Dis. 2019. PMID: 31029159 Free PMC article.
BACKGROUND: Glanzmann thrombasthenia (GT) is a rare autosomal recessive abnormality of platelet aggregation with quantitative and/or qualitative abnormality of alphaIIbbeta3 integrin. ...The causative mutation in 2 patients remained unknown. Using long-range …
BACKGROUND: Glanzmann thrombasthenia (GT) is a rare autosomal recessive abnormality of platelet aggregation with quantitative …
Inherited traits affecting platelet function.
Salles II, Feys HB, Iserbyt BF, De Meyer SF, Vanhoorelbeke K, Deckmyn H. Salles II, et al. Blood Rev. 2008 May;22(3):155-72. doi: 10.1016/j.blre.2007.11.002. Epub 2008 Jan 3. Blood Rev. 2008. PMID: 18180086 Review.
They are associated with defects in surface membrane glycoproteins resulting in e.g. Bernard Soulier Syndrome and Glanzmann Thrombasthenia causing defects in platelet adhesion and aggregation, respectively, as well as in receptors for agonists (a.o. P2Y(12), TXA( …
They are associated with defects in surface membrane glycoproteins resulting in e.g. Bernard Soulier Syndrome and Glanzmann Thromb …
Glanzmann's thrombasthenia.
Caen JP. Caen JP. Baillieres Clin Haematol. 1989 Jul;2(3):609-25. doi: 10.1016/s0950-3536(89)80036-8. Baillieres Clin Haematol. 1989. PMID: 2673430 Review. No abstract available.
Glanzmann's thrombasthenia.
Agarwal MB, Agarwal UM, Viswanathan C, Bhave AA, Billa V. Agarwal MB, et al. Indian Pediatr. 1992 Jul;29(7):837-41. Indian Pediatr. 1992. PMID: 1428131
During January 1981 to June 1991, 20 patients from 16 unrelated families were detected to have Glanzmann's thrombasthenia (GT). Twelve families (75%) had history of consanguinity, with 6 first cousins and 3 uncle-niece marriages; of these 7 were Muslims, 6 Hindus an …
During January 1981 to June 1991, 20 patients from 16 unrelated families were detected to have Glanzmann's thrombasthenia (GT) …
Genetic testing in the diagnostic evaluation of inherited platelet disorders.
Nurden AT, Fiore M, Pillois X, Nurden P. Nurden AT, et al. Semin Thromb Hemost. 2009 Mar;35(2):204-12. doi: 10.1055/s-0029-1220328. Epub 2009 Apr 30. Semin Thromb Hemost. 2009. PMID: 19408193 Review.
But a full diagnosis can only be complete when the genetic defect has been defined for each patient. Glanzmann thrombasthenia (GT) and the Bernard-Soulier syndrome are the most studied of the membrane disorders and a wide range of mutations identified. ...
But a full diagnosis can only be complete when the genetic defect has been defined for each patient. Glanzmann thrombasthenia …
Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders.
Zamora-Cánovas A, de la Morena-Barrio B, Marín-Quilez A, Sierra-Aisa C, Male C, Fernández-Mosteirin N, Trapero-Marugán M, Padilla J, Garrido-Rodriguez P, Sánchez-Fuentes A, Rodríguez-Alen A, Gómez-González PL, Revilla N, de la Morena-Barrio ME, Bastida JM, Corral J, Rivera J, Lozano ML. Zamora-Cánovas A, et al. J Thromb Haemost. 2024 Mar;22(3):851-859. doi: 10.1016/j.jtha.2023.11.007. Epub 2023 Nov 24. J Thromb Haemost. 2024. PMID: 38007062
METHODS: Four patients with a clinical and laboratory diagnosis of Glanzmann thrombasthenia (GT) (P1 and P2) and Hermansky-Pudlak syndrome (HPS) (P3 and P4) in whom HTS missed the underlying molecular cause were included. ...In patients with HPS, a homozygous deleti …
METHODS: Four patients with a clinical and laboratory diagnosis of Glanzmann thrombasthenia (GT) (P1 and P2) and Hermansky-Pud …
Glanzmann Thrombasthenia: A Clinicopathological Profile.
Iqbal I, Farhan S, Ahmed N. Iqbal I, et al. J Coll Physicians Surg Pak. 2016 Aug;26(8):647-50. J Coll Physicians Surg Pak. 2016. PMID: 27539755
RESULTS: Among 796 patients, 163 (20.4%) patients were diagnosed with Glanzmann's thrombasthenia. The male to female ratio was 1.2:1. Their mean age was 7 2.5 years ranging from 3 months to 35 years. ...CONCLUSION: Glanzmann thrombasthenia …
RESULTS: Among 796 patients, 163 (20.4%) patients were diagnosed with Glanzmann's thrombasthenia. The male to female ratio was …
138 results