These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

142 related articles for article (PubMed ID: 38625506)

  • 1. Bernard-Soulier syndrome caused by a novel GP1BB variant and 22q11.2 deletion.
    Nagoshi R; Sakamoto A; Imai T; Uchiyama T; Kaname T; Kunishima S; Ishiguro A
    Int J Hematol; 2024 Jul; 120(1):142-145. PubMed ID: 38625506
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Bernard-Soulier syndrome caused by a hemizygous GPIbβ mutation and 22q11.2 deletion.
    Kunishima S; Imai T; Kobayashi R; Kato M; Ogawa S; Saito H
    Pediatr Int; 2013 Aug; 55(4):434-7. PubMed ID: 23566026
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Bernard-Soulier syndrome associated with 22q11.2 deletion and clinical features of DiGeorge/velocardiofacial syndrome.
    Souto Filho JTD; Ribeiro HAA; Fassbender IPB; Ribeiro JMMC; Ferreira Júnior WDS; Figueiredo LCS
    Blood Coagul Fibrinolysis; 2019 Dec; 30(8):423-425. PubMed ID: 31738289
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A Novel Mutation in
    Barozzi S; Bozzi V; De Rocco D; Giangregorio T; Noris P; Savoia A; Pecci A
    Int J Mol Sci; 2021 Sep; 22(19):. PubMed ID: 34638529
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Hemizygosity for the gene encoding glycoprotein Ibβ is not responsible for macrothrombocytopenia and bleeding in patients with 22q11 deletion syndrome.
    Zwifelhofer NMJ; Bercovitz RS; Weik LA; Moroi A; LaRose S; Newman PJ; Newman DK
    J Thromb Haemost; 2019 Feb; 17(2):295-305. PubMed ID: 30549403
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A
    Skalníková M; Staňo Kozubík K; Trizuljak J; Vrzalová Z; Radová L; Réblová K; Holbová R; Kurucová T; Svozilová H; Štika J; Blaháková I; Dvořáčková B; Prudková M; Stehlíková O; Šmída M; Křen L; Smejkal P; Pospíšilová Š; Doubek M
    Int J Mol Sci; 2022 Jan; 23(2):. PubMed ID: 35055070
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Spectrum of the mutations in Bernard-Soulier syndrome.
    Savoia A; Kunishima S; De Rocco D; Zieger B; Rand ML; Pujol-Moix N; Caliskan U; Tokgoz H; Pecci A; Noris P; Srivastava A; Ward C; Morel-Kopp MC; Alessi MC; Bellucci S; Beurrier P; de Maistre E; Favier R; Hézard N; Hurtaud-Roux MF; Latger-Cannard V; Lavenu-Bombled C; Proulle V; Meunier S; Négrier C; Nurden A; Randrianaivo H; Fabris F; Platokouki H; Rosenberg N; HadjKacem B; Heller PG; Karimi M; Balduini CL; Pastore A; Lanza F
    Hum Mutat; 2014 Sep; 35(9):1033-45. PubMed ID: 24934643
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibbeta mutations.
    Kunishima S; Sako M; Yamazaki T; Hamaguchi M; Saito H
    Eur J Haematol; 2006 Dec; 77(6):501-12. PubMed ID: 16978236
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark.
    Leinøe E; Brøns N; Rasmussen AØ; Gabrielaite M; Zaninetti C; Palankar R; Zetterberg E; Rosthøj S; Ostrowski SR; Rossing M
    J Thromb Haemost; 2021 Nov; 19(11):2884-2892. PubMed ID: 34333846
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel hemizygous Bernard-Soulier Syndrome (BSS) mutation in the amino terminal domain of glycoprotein (GP)Ibbeta--platelet characterization and transfection studies.
    Hillmann A; Nurden A; Nurden P; Combrié R; Claeyssens S; Moran N; Kenny D
    Thromb Haemost; 2002 Dec; 88(6):1026-32. PubMed ID: 12529755
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations.
    Savoia A; Pastore A; De Rocco D; Civaschi E; Di Stazio M; Bottega R; Melazzini F; Bozzi V; Pecci A; Magrin S; Balduini CL; Noris P
    Haematologica; 2011 Mar; 96(3):417-23. PubMed ID: 21173099
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Bernard-Soulier syndrome associated with 22q11.2 microdeletion.
    Nakagawa M; Okuno M; Okamoto N; Fujino H; Kato H
    Am J Med Genet; 2001 Apr; 99(4):286-8. PubMed ID: 11251994
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Platelet changes and bleeding symptoms in children, adolescents, and adults with 22q11.2 deletion syndrome.
    Sakamoto A; Uchiyama T; Futatsugi R; Ohara O; Iguchi A; Kaname T; Hikosaka M; Ono H; Kunishima S; Ito S; Ishiguro A
    Pediatr Blood Cancer; 2024 Nov; 71(11):e31292. PubMed ID: 39228058
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Macrothrombocytopenia in velocardiofacial syndrome.
    Pallotta R; Evangelista V; Margaglione M; Bucci I; Saponari A
    J Thromb Haemost; 2005 Mar; 3(3):601-3. PubMed ID: 15748265
    [No Abstract]   [Full Text] [Related]  

  • 15. Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study.
    Bragadottir G; Birgisdottir ER; Gudmundsdottir BR; Hilmarsdottir B; Vidarsson B; Magnusson MK; Larsen OH; Sorensen B; Ingerslev J; Onundarson PT
    Am J Hematol; 2015 Feb; 90(2):149-55. PubMed ID: 25370924
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic abnormalities of Bernard-Soulier syndrome.
    Kunishima S; Kamiya T; Saito H
    Int J Hematol; 2002 Nov; 76(4):319-27. PubMed ID: 12463594
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The critical interaction of glycoprotein (GP) IBbeta with GPIX-a genetic cause of Bernard-Soulier syndrome.
    Kenny D; Morateck PA; Gill JC; Montgomery RR
    Blood; 1999 May; 93(9):2968-75. PubMed ID: 10216092
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Biological, clinical features and modelling of heterozygous variants of glycoprotein Ib platelet subunit alpha (GP1BA) and glycoprotein Ib platelet subunit beta (GP1BB) genes responsible for constitutional thrombocytopenia.
    Dib F; Quéméner A; Bayart S; Boisseau P; Babuty A; Trossaërt M; Sigaud M; Ternisien C; Drillaud N; Eveillard M; Guillet B; Béné MC; Fouassier M
    Br J Haematol; 2022 Dec; 199(5):744-753. PubMed ID: 36173017
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A missense mutation (Tyr88 to Cys) in the platelet membrane glycoprotein Ibbeta gene affects GPIb/IX complex expression--Bernard-Soulier syndrome in the homozygous form and giant platelets in the heterozygous form.
    Kurokawa Y; Ishida F; Kamijo T; Kunishima S; Kenny D; Kitano K; Koike K
    Thromb Haemost; 2001 Nov; 86(5):1249-56. PubMed ID: 11816714
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Bernard-Soulier syndrome: novel nonsense mutation in GPIbbeta gene affecting GPIb-IX complex expression.
    Hadjkacem B; Elleuch H; Gargouri J; Gargouri A
    Ann Hematol; 2009 May; 88(5):465-72. PubMed ID: 18825380
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.