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 *

94 related articles for article (PubMed ID: 17413767)

  • 21. [An elderly case of congenital prekallikrein deficiency].
    Nagaya S; Morishita E; Takami A; Maruyama K; Sekiya A; Asakura H; Nakao S; Ohtake S
    Nihon Ronen Igakkai Zasshi; 2009 Jul; 46(4):348-51. PubMed ID: 19713668
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Distal myopathy caused by homozygous missense mutations in the nebulin gene.
    Wallgren-Pettersson C; Lehtokari VL; Kalimo H; Paetau A; Nuutinen E; Hackman P; Sewry C; Pelin K; Udd B
    Brain; 2007 Jun; 130(Pt 6):1465-76. PubMed ID: 17525139
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Long-term safety outcomes of prekallikrein (Fletcher factor) deficiency: A systematic literature review of case reports.
    Girolami A; Rolland C; Sexton D; Vardi M; Bernstein JA
    Allergy Asthma Proc; 2020 Jan; 41(1):10-18. PubMed ID: 31888778
    [No Abstract]   [Full Text] [Related]  

  • 24. Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.
    Guella I; Soldà G; Spena S; Asselta R; Ghiotto R; Tenchini ML; Castaman G; Duga S
    Thromb Haemost; 2008 Mar; 99(3):523-30. PubMed ID: 18327400
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Prekallikrein deficiency: a rare cause of a significant prolongation of the activated partial thromboplastin time. Apropos of a case].
    Abecassis L; Poupin F; Forceville X; Tapie-Meurgue M; Amiot JF
    Cah Anesthesiol; 1991; 39(6):421-3. PubMed ID: 1773371
    [No Abstract]   [Full Text] [Related]  

  • 26. Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.
    Smith BN; Ancliff PJ; Pizzey A; Khwaja A; Linch DC; Gale RE
    Br J Haematol; 2009 Mar; 144(5):762-70. PubMed ID: 19036076
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Prevalence of hypertension and its complications in congenital prekallikrein deficiency: analysis of all reported cases and clinical significance.
    Girolami A; Ferrari S; Cosi E; Sambado L; Girolami B
    Blood Coagul Fibrinolysis; 2015 Jul; 26(5):560-3. PubMed ID: 25886833
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Factor V deficiency.
    Asselta R; Peyvandi F
    Semin Thromb Hemost; 2009 Jun; 35(4):382-9. PubMed ID: 19598066
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish.
    Zahka K; Kalidas K; Simpson MA; Cross H; Keller BB; Galambos C; Gurtz K; Patton MA; Crosby AH
    Heart; 2008 Oct; 94(10):1326-30. PubMed ID: 18467358
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis.
    Rudd E; Bryceson YT; Zheng C; Edner J; Wood SM; Ramme K; Gavhed S; Gürgey A; Hellebostad M; Bechensteen AG; Ljunggren HG; Fadeel B; Nordenskjöld M; Henter JI
    J Med Genet; 2008 Mar; 45(3):134-41. PubMed ID: 17993578
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Contact factor deficiencies and cardiopulmonary bypass surgery: detection of the defect and monitoring of heparin.
    van Veen JJ; Laidlaw S; Swanevelder J; Harvey N; Watson C; Kitchen S; Makris M
    Eur J Haematol; 2009 Mar; 82(3):208-12. PubMed ID: 19077049
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Association of Graves' disease and prekallikrein congenital deficiency in a patient belonging to the first CRM+ prekallikrein-deficient Italian family.
    De Stefano V; Leone G; Teofili L; De Marinis L; Micalizzi P; Fiumara C; Bizzi B
    Thromb Res; 1990 Dec; 60(5):397-404. PubMed ID: 2084960
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Fletcher factor deficiency in a woman requiring emergency caesarean section.
    Odumosu MC; Yoong WC; Fakokunde AF
    J Obstet Gynaecol; 2009 Jul; 29(5):442. PubMed ID: 19603330
    [No Abstract]   [Full Text] [Related]  

  • 34. The First Case of Congenital Prekallikrein Deficiency in Korea With a Novel Pathogenic Variant (c.1198G>T).
    Ryu S; Gu JY; Hong KT; Han DH; Kim HK
    Ann Lab Med; 2019 Mar; 39(2):229-231. PubMed ID: 30430790
    [No Abstract]   [Full Text] [Related]  

  • 35. Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.
    Ishikawa N; Okada S; Miki M; Shirao K; Kihara H; Tsumura M; Nakamura K; Kawaguchi H; Ohtsubo M; Yasunaga S; Matsubara K; Sako M; Hara J; Shiohara M; Kojima S; Sato T; Takihara Y; Kobayashi M
    J Med Genet; 2008 Dec; 45(12):802-7. PubMed ID: 18611981
    [TBL] [Abstract][Full Text] [Related]  

  • 36. c.451dupT in KLKB1 is common in Nigerians, confirming a higher prevalence of severe prekallikrein deficiency in Africans compared to Europeans.
    Adenaeuer A; Ezigbo ED; Fawzy Nazir H; Barco S; Trinchero A; Laubert-Reh D; Strauch K; Wild PS; Lackner KJ; Lämmle B; Rossmann H
    J Thromb Haemost; 2021 Jan; 19(1):147-152. PubMed ID: 33073460
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Severe plasma prekallikrein deficiency: Clinical characteristics, novel KLKB1 mutations, and estimated prevalence.
    Barco S; Sollfrank S; Trinchero A; Adenaeuer A; Abolghasemi H; Conti L; Häuser F; Kremer Hovinga JA; Lackner KJ; Loewecke F; Miloni E; Vazifeh Shiran N; Tomao L; Wuillemin WA; Zieger B; Lämmle B; Rossmann H
    J Thromb Haemost; 2020 Jul; 18(7):1598-1617. PubMed ID: 32202057
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Genetic Analysis of Prekallikrein Deficiency in a Consanguineously Married Chinese Family.
    Chen Y; Liu M; Wang M; Chen H; Chen B
    Turk J Haematol; 2023 Dec; 40(4):286-287. PubMed ID: 38050365
    [No Abstract]   [Full Text] [Related]  

  • 39. Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations.
    Carlsson G; van't Hooft I; Melin M; Entesarian M; Laurencikas E; Nennesmo I; Trebińska A; Grzybowska E; Palmblad J; Dahl N; Nordenskjöld M; Fadeel B; Henter JI
    J Intern Med; 2008 Oct; 264(4):388-400. PubMed ID: 18513342
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
    Otto EA; Tory K; Attanasio M; Zhou W; Chaki M; Paruchuri Y; Wise EL; Wolf MT; Utsch B; Becker C; Nürnberg G; Nürnberg P; Nayir A; Saunier S; Antignac C; Hildebrandt F
    J Med Genet; 2009 Oct; 46(10):663-70. PubMed ID: 19508969
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 5.