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 *

136 related articles for article (PubMed ID: 34558179)

  • 1. GGCX-related congenital combined vitamin K-dependent clotting factors deficiency-1: Description of a fetus with chondrodysplasia punctata.
    Mathonnet A; Cunat S; Allias F; Caillot S; Thonnon C; Till M; Attié-Bitach T; Touraine R; Meunier S; Cartellier C; Rossi M; Attia J; Putoux A
    Am J Med Genet A; 2022 Jan; 188(1):314-318. PubMed ID: 34558179
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Uniparental disomy causes deficiencies of vitamin K-dependent proteins.
    Dasi MA; Gonzalez-Conejero R; Izquierdo S; Padilla J; Garcia JL; Garcia-Barberá N; Argilés B; de la Morena-Barrio ME; Hernández-Sánchez JM; Hernández-Rivas JM; Vicente V; Corral J
    J Thromb Haemost; 2016 Dec; 14(12):2410-2418. PubMed ID: 27681307
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Congenital Combined Deficiency of the Vitamin K-dependent Clotting Factors (VKCFD): A Novel Gamma-glutamyl Carboxylase (GGCX) Mutation.
    Al Absi HS; Abdullah MF
    J Pediatr Hematol Oncol; 2019 May; 41(4):e224-e226. PubMed ID: 30531603
    [TBL] [Abstract][Full Text] [Related]  

  • 4. GGCX mutations show different responses to vitamin K thereby determining the severity of the hemorrhagic phenotype in VKCFD1 patients.
    Ghosh S; Kraus K; Biswas A; Müller J; Buhl AL; Forin F; Singer H; Höning K; Hornung V; Watzka M; Czogalla-Nitsche KJ; Oldenburg J
    J Thromb Haemost; 2021 Jun; 19(6):1412-1424. PubMed ID: 33590680
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Familial deficiency of vitamin K-dependent clotting factors.
    Weston BW; Monahan PE
    Haemophilia; 2008 Nov; 14(6):1209-13. PubMed ID: 19141161
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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. PubMed ID: 16905958
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Hereditary combined deficiency of the vitamin K-dependent clotting factors.
    Napolitano M; Mariani G; Lapecorella M
    Orphanet J Rare Dis; 2010 Jul; 5():21. PubMed ID: 20630065
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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. PubMed ID: 19340858
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Two enzymes catalyze vitamin K 2,3-epoxide reductase activity in mouse: VKORC1 is highly expressed in exocrine tissues while VKORC1L1 is highly expressed in brain.
    Caspers M; Czogalla KJ; Liphardt K; Müller J; Westhofen P; Watzka M; Oldenburg J
    Thromb Res; 2015 May; 135(5):977-83. PubMed ID: 25747820
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: case report and review.
    Wessels MW; Den Hollander NJ; De Krijger RR; Nikkels PG; Brandenburg H; Hennekam R; Willems PJ
    Am J Med Genet A; 2003 Jul; 120A(1):97-104. PubMed ID: 12794700
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Pseudoxanthoma elasticum-like disease with deficiency of vitamin K-dependent clotting factors and cutis laxa features].
    Gusdorf L; Mitcov M; Maradeix S; Cunat S; Martin L; Cribier B
    Ann Dermatol Venereol; 2016 Apr; 143(4):279-83. PubMed ID: 26944767
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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. PubMed ID: 11154138
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Polymorphisms in VKORC1 and GGCX are not major genetic determinants of vitamin K-dependent coagulation factor activity in Western Germans.
    Watzka M; Westhofen P; Hass M; Marinova M; Pötzsch B; Oldenburg J
    Thromb Haemost; 2009 Aug; 102(2):418-20. PubMed ID: 19652895
    [No Abstract]   [Full Text] [Related]  

  • 14. Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn disease.
    Toriello HV; Erick M; Alessandri JL; Bailey D; Brunetti-Pierri N; Cox H; Fryer A; Marty D; McCurdy C; Mulliken JB; Murphy H; Omlor J; Pauli RM; Ranells JD; Sanchez-Valle A; Tobiasz A; Van Maldergem L; Lin AE
    Am J Med Genet A; 2013 Mar; 161A(3):417-29. PubMed ID: 23404932
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata.
    Blask AR; Rubio EI; Chapman KA; Lawrence AK; Bulas DI
    Pediatr Radiol; 2018 Jul; 48(7):979-991. PubMed ID: 29572747
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Partial research progress of GGCX pathogenic variation associated phenotypes].
    Shen G; Liu H; Shen Y; Xi S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jun; 39(6):646-650. PubMed ID: 35773773
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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. PubMed ID: 19116367
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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. PubMed ID: 15287948
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders.
    Wulfsberg EA; Curtis J; Jayne CH
    Am J Med Genet; 1992 Jul; 43(5):823-8. PubMed ID: 1642270
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Prenatal diagnosis of brachytelephalangic chondrodysplasia punctata: case report.
    Benaicha A; Dommergues M; Jouannic JM; Jacquette A; Alexandre M; Le Merrer M; Ducou Le Pointe H; Garel C
    Ultrasound Obstet Gynecol; 2009 Dec; 34(6):724-6. PubMed ID: 19856318
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.