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 *

155 related articles for article (PubMed ID: 8989458)

  • 21. Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease.
    Ancliff PJ; Gale RE; Liesner R; Hann IM; Linch DC
    Blood; 2001 Nov; 98(9):2645-50. PubMed ID: 11675333
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase.
    Benson KF; Li FQ; Person RE; Albani D; Duan Z; Wechsler J; Meade-White K; Williams K; Acland GM; Niemeyer G; Lothrop CD; Horwitz M
    Nat Genet; 2003 Sep; 35(1):90-6. PubMed ID: 12897784
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.
    Cohn AC; Toomes C; Potter C; Towns KV; Hewitt AW; Inglehearn CF; Craig JE; Mackey DA
    Am J Ophthalmol; 2007 Apr; 143(4):656-62. PubMed ID: 17306754
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Severe chronic neutropenia: treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry.
    Dale DC; Cottle TE; Fier CJ; Bolyard AA; Bonilla MA; Boxer LA; Cham B; Freedman MH; Kannourakis G; Kinsey SE; Davis R; Scarlata D; Schwinzer B; Zeidler C; Welte K
    Am J Hematol; 2003 Feb; 72(2):82-93. PubMed ID: 12555210
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
    Dalal D; James C; Devanagondi R; Tichnell C; Tucker A; Prakasa K; Spevak PJ; Bluemke DA; Abraham T; Russell SD; Calkins H; Judge DP
    J Am Coll Cardiol; 2006 Oct; 48(7):1416-24. PubMed ID: 17010805
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Genotype-phenotype correlations in hereditary familial retinoblastoma.
    Taylor M; Dehainault C; Desjardins L; Doz F; Levy C; Sastre X; Couturier J; Stoppa-Lyonnet D; Houdayer C; Gauthier-Villars M
    Hum Mutat; 2007 Mar; 28(3):284-93. PubMed ID: 17096365
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance.
    Hammar B; Björck E; Lagerstedt K; Dellby A; Fagerholm P
    Acta Ophthalmol; 2008 Nov; 86(7):758-63. PubMed ID: 18778339
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A refined symptom-based approach to diagnose pulmonary tuberculosis in children.
    Marais BJ; Gie RP; Hesseling AC; Schaaf HS; Lombard C; Enarson DA; Beyers N
    Pediatrics; 2006 Nov; 118(5):e1350-9. PubMed ID: 17079536
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Physician Education: Myelodysplastic Syndrome.
    Yoshida Y
    Oncologist; 1996; 1(4):284-287. PubMed ID: 10388004
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Familial essential tremor with apparent autosomal dominant inheritance: should we also consider other inheritance modes?
    Ma S; Davis TL; Blair MA; Fang JY; Bradford Y; Haines JL; Hedera P
    Mov Disord; 2006 Sep; 21(9):1368-74. PubMed ID: 16721753
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Familial dilated cardiomyopathy: evidence for clinical and immunogenetic heterogeneity.
    Bilińska ZT; Michalak E; Piatosa B; Grzybowski J; Skwarek M; Deptuch TW; Kuśmierczyk-Droszcz B; Piotrowski W; Ruzyłło W
    Med Sci Monit; 2003 May; 9(5):CR167-74. PubMed ID: 12761452
    [TBL] [Abstract][Full Text] [Related]  

  • 33. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
    Jensen HK
    Dan Med Bull; 2002 Nov; 49(4):318-45. PubMed ID: 12553167
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A review of genetic mutation in familial Hirschsprung's disease in South Africa: towards genetic counseling.
    Moore SW; Zaahl MG
    J Pediatr Surg; 2008 Feb; 43(2):325-9. PubMed ID: 18280283
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Hereditary hemorrhagic telangiectasia with juvenile polyposis--coincidence or linked autosomal dominant inheritance?
    Ballauff A; Koletzko S
    Z Gastroenterol; 1999 May; 37(5):385-8. PubMed ID: 10413846
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A susceptibility locus for Parkinson's disease maps to chromosome 2p13.
    Gasser T; Müller-Myhsok B; Wszolek ZK; Oehlmann R; Calne DB; Bonifati V; Bereznai B; Fabrizio E; Vieregge P; Horstmann RD
    Nat Genet; 1998 Mar; 18(3):262-5. PubMed ID: 9500549
    [TBL] [Abstract][Full Text] [Related]  

  • 37. The genetics of malignant hyperthermia: evidence for heterogeneity.
    McPherson E; Taylor CA
    Am J Med Genet; 1982 Mar; 11(3):273-85. PubMed ID: 7081293
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Noonan syndrome: the changing phenotype.
    Allanson JE; Hall JG; Hughes HE; Preus M; Witt RD
    Am J Med Genet; 1985 Jul; 21(3):507-14. PubMed ID: 4025385
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Cyclic and chronic neutropenia.
    Dale DC; Welte K
    Cancer Treat Res; 2011; 157():97-108. PubMed ID: 21052952
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Increase in the serum macrophage migration inhibitory activity and lysozyme in dogs affected with cyclic hematopoiesis.
    Yang TJ; Yoshida T; Kim SN; Jones JB
    Exp Hematol; 1982 Nov; 10(10):867-73. PubMed ID: 6759148
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.