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Items: 1 to 20 of 40

1.

Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome.

Savoia A, Balduini CL, Savino M, Noris P, Del Vecchio M, Perrotta S, Belletti S, Poggi, Iolascon A.

Blood. 2001 Mar 1;97(5):1330-5.

2.

Genetic abnormalities of Bernard-Soulier syndrome.

Kunishima S, Kamiya T, Saito H.

Int J Hematol. 2002 Nov;76(4):319-27. Review.

PMID:
12463594
3.

Bernard-Soulier syndrome: an update.

Andrews RK, Berndt MC.

Semin Thromb Hemost. 2013 Sep;39(6):656-62. doi: 10.1055/s-0033-1353390. Epub 2013 Aug 8. Review.

PMID:
23929303
4.
5.

Molecular pathogenesis of Bernard-Soulier syndrome.

Hayashi T, Suzuki K.

Semin Thromb Hemost. 2000;26(1):53-9. Review.

PMID:
10805283
6.

Biochemical and molecular basis of Bernard-Soulier syndrome: a review.

de la Salle C, Lanza F, Cazenave JP.

Nouv Rev Fr Hematol. 1995;37(4):215-22. Review.

PMID:
8904201
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. doi: 10.1002/humu.22607. Epub 2014 Jul 15. Review.

PMID:
24934643
8.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
9.
10.
11.

Molecular genetics of type 2 von Willebrand disease.

Fressinaud E, Mazurier C, Meyer D.

Int J Hematol. 2002 Jan;75(1):9-18. Review.

PMID:
11843298
12.

Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy).

Lanza F.

Orphanet J Rare Dis. 2006 Nov 16;1:46. Review.

13.

Characterization of recessive severe type 1 and 3 von Willebrand Disease (VWD), asymptomatic heterozygous carriers versus bloodgroup O-related von Willebrand factor deficiency, and dominant type 1 VWD.

Michiels JJ, Berneman Z, Gadisseur A, van der Planken M, Schroyens W, van de Velde A, van Vliet H.

Clin Appl Thromb Hemost. 2006 Jul;12(3):277-95. Review.

PMID:
16959681
14.

MYH9 related platelet disorders - often unknown and misdiagnosed.

Althaus K, Najm J, Greinacher A.

Klin Padiatr. 2011 May;223(3):120-5. doi: 10.1055/s-0031-1275664. Epub 2011 May 12. Review.

PMID:
21567368
15.

Inherited giant platelet disorders. Classification and literature review.

Mhawech P, Saleem A.

Am J Clin Pathol. 2000 Feb;113(2):176-90. Review.

PMID:
10664620
16.

Bernard-Soulier syndrome: an inherited platelet disorder.

Pham A, Wang J.

Arch Pathol Lab Med. 2007 Dec;131(12):1834-6. Review.

PMID:
18081445
17.

Qualitative disorders of platelets and megakaryocytes.

Nurden AT.

J Thromb Haemost. 2005 Aug;3(8):1773-82. Review.

18.

Recurrent mutation Asn45-->Ser of glycoprotein IX in Bernard-Soulier syndrome.

Donnér M, Karpman D, Kristoffersson AC, Winqvist I, Holmberg L.

Eur J Haematol. 1996 Aug;57(2):178-9. Review. No abstract available.

PMID:
8856096
20.

[History of congenital thrombocytic hemorrhagic dystrophy].

Bernard J.

C R Acad Sci III. 1996 Aug;319(8):727-32. Review. French.

PMID:
8949397

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