Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 623

1.

Novel splice site mutations in the gamma glutamyl carboxylase gene in a child with congenital combined deficiency of the vitamin K-dependent coagulation factors (VKCFD).

Titapiwatanakun R, Rodriguez V, Middha S, Dukek BA, Pruthi RK.

Pediatr Blood Cancer. 2009 Jul;53(1):92-5. doi: 10.1002/pbc.22011.

PMID:
19340858
[PubMed - indexed for MEDLINE]
2.

Compound heterozygous mutations in the gamma-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factors.

Rost S, Fregin A, Koch D, Compes M, Müller CR, Oldenburg J.

Br J Haematol. 2004 Aug;126(4):546-9.

PMID:
15287948
[PubMed - indexed for MEDLINE]
3.

Vitamin K-dependent coagulation factors deficiency.

Brenner B, Kuperman AA, Watzka M, Oldenburg J.

Semin Thromb Hemost. 2009 Jun;35(4):439-46. doi: 10.1055/s-0029-1225766. Epub 2009 Jul 13. Review.

PMID:
19598072
[PubMed - indexed for MEDLINE]
4.

Founder mutation Arg485Pro led to recurrent compound heterozygous GGCX genotypes in two German patients with VKCFD type 1.

Rost S, Geisen C, Fregin A, Seifried E, Müller CR, Oldenburg J.

Blood Coagul Fibrinolysis. 2006 Sep;17(6):503-7.

PMID:
16905958
[PubMed - indexed for MEDLINE]
5.

Congenital deficiency of vitamin K dependent coagulation factors in two families presents as a genetic defect of the vitamin K-epoxide-reductase-complex.

Oldenburg J, von Brederlow B, Fregin A, Rost S, Wolz W, Eberl W, Eber S, Lenz E, Schwaab R, Brackmann HH, Effenberger W, Harbrecht U, Schurgers LJ, Vermeer C, Müller CR.

Thromb Haemost. 2000 Dec;84(6):937-41.

PMID:
11154138
[PubMed - indexed for MEDLINE]
6.

Compound heterozygosity of novel missense mutations in the gamma-glutamyl-carboxylase gene causes hereditary combined vitamin K-dependent coagulation factor deficiency.

Darghouth D, Hallgren KW, Shtofman RL, Mrad A, Gharbi Y, Maherzi A, Kastally R, LeRicousse S, Berkner KL, Rosa JP.

Blood. 2006 Sep 15;108(6):1925-31. Epub 2006 May 23.

PMID:
16720838
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Novel mutation in the gamma-glutamyl carboxylase gene resulting in congenital combined deficiency of all vitamin K-dependent blood coagulation factors.

Spronk HM, Farah RA, Buchanan GR, Vermeer C, Soute BA.

Blood. 2000 Nov 15;96(10):3650-2.

PMID:
11071668
[PubMed - indexed for MEDLINE]
Free Article
8.

Hereditary combined deficiency of the vitamin K-dependent clotting factors.

Napolitano M, Mariani G, Lapecorella M.

Orphanet J Rare Dis. 2010 Jul 14;5:21. doi: 10.1186/1750-1172-5-21. Review.

PMID:
20630065
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Novel phenotype and γ-glutamyl carboxylase mutations in combined deficiency of vitamin K-dependent coagulation factors.

Lunghi B, Redaelli R, Caimi TM, Corno AR, Bernardi F, Marchetti G.

Haemophilia. 2011 Sep;17(5):822-4. doi: 10.1111/j.1365-2516.2011.02524.x. Epub 2011 Mar 24. No abstract available.

PMID:
21435120
[PubMed - indexed for MEDLINE]
10.

A missense mutation in gamma-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors.

Brenner B, Sánchez-Vega B, Wu SM, Lanir N, Stafford DW, Solera J.

Blood. 1998 Dec 15;92(12):4554-9.

PMID:
9845520
[PubMed - indexed for MEDLINE]
Free Article
11.

Familial multiple coagulation factor deficiencies: new biologic insight from rare genetic bleeding disorders.

Zhang B, Ginsburg D.

J Thromb Haemost. 2004 Sep;2(9):1564-72. Review.

PMID:
15333032
[PubMed - indexed for MEDLINE]
12.

Truncated gamma-glutamyl carboxylase in rambouillet sheep.

Johnson JS, Laegreid WS, Basaraba RJ, Baker DC.

Vet Pathol. 2006 Jul;43(4):430-7.

PMID:
16846984
[PubMed - indexed for MEDLINE]
Free Article
13.

Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene.

Li Q, Schurgers LJ, Smith AC, Tsokos M, Uitto J, Cowen EW.

Am J Pathol. 2009 Feb;174(2):534-40. doi: 10.2353/ajpath.2009.080865. Epub 2008 Dec 30.

PMID:
19116367
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Congenital deficiency of all vitamin K-dependent blood coagulation factors due to a defective vitamin K-dependent carboxylase in Devon Rex cats.

Soute BA, Ulrich MM, Watson AD, Maddison JE, Ebberink RH, Vermeer C.

Thromb Haemost. 1992 Nov 10;68(5):521-5.

PMID:
1455398
[PubMed - indexed for MEDLINE]
15.

Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 16.

Fregin A, Rost S, Wolz W, Krebsova A, Muller CR, Oldenburg J.

Blood. 2002 Nov 1;100(9):3229-32.

PMID:
12384421
[PubMed - indexed for MEDLINE]
Free Article
16.

Defective gamma-glutamyl carboxylase activity and bleeding in Rambouillet sheep.

Johnson JS, Soute BA, Olver CS, Baker DC.

Vet Pathol. 2006 Sep;43(5):726-32.

PMID:
16966451
[PubMed - indexed for MEDLINE]
Free Article
17.

Polymorphisms in vitamin K-dependent gamma-carboxylation-related genes influence interindividual variability in plasma protein C and protein S activities in the general population.

Kimura R, Kokubo Y, Miyashita K, Otsubo R, Nagatsuka K, Otsuki T, Sakata T, Nagura J, Okayama A, Minematsu K, Naritomi H, Honda S, Sato K, Tomoike H, Miyata T.

Int J Hematol. 2006 Dec;84(5):387-97.

PMID:
17189218
[PubMed - indexed for MEDLINE]
18.

Familial deficiency of vitamin K-dependent clotting factors.

Weston BW, Monahan PE.

Haemophilia. 2008 Nov;14(6):1209-13. doi: 10.1111/j.1365-2516.2008.01853.x.

PMID:
19141161
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Congenital deficiency of vitamin K-dependent coagulation factors--a vitamin-K dependency state?

Goraya JS.

Thromb Haemost. 2001 Sep;86(3):932. No abstract available.

PMID:
11583331
[PubMed - indexed for MEDLINE]
20.

Identification of a Drosophila vitamin K-dependent gamma-glutamyl carboxylase.

Li T, Yang CT, Jin D, Stafford DW.

J Biol Chem. 2000 Jun 16;275(24):18291-6.

PMID:
10748045
[PubMed - indexed for MEDLINE]
Free Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk