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Journal Abstract Search

366 related items for PubMed ID: 19036076

  • 21. Two cases of syndromic neutropenia with a report of novel mutation in G6PC3.
    Alizadeh Z, Fazlollahi MR, Eshghi P, Hamidieh AA, Ghadami M, Pourpak Z.
    Iran J Allergy Asthma Immunol; 2011 Sep; 10(3):227-30. PubMed ID: 21891829
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  • 22. Digenic mutations in severe congenital neutropenia.
    Germeshausen M, Zeidler C, Stuhrmann M, Lanciotti M, Ballmaier M, Welte K.
    Haematologica; 2010 Jul; 95(7):1207-10. PubMed ID: 20220065
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  • 24. Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.
    Otto EA, Helou J, Allen SJ, O'Toole JF, Wise EL, Ashraf S, Attanasio M, Zhou W, Wolf MT, Hildebrandt F.
    Hum Mutat; 2008 Mar; 29(3):418-26. PubMed ID: 18076122
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  • 25. A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations.
    Faiyaz-Ul-Haque M, Al-Jefri A, Al-Dayel F, Bhuiyan JA, Abalkhail HA, Al-Nounou R, Al-Abdullatif A, Pulicat MS, Gaafar A, Alaiya AA, Peltekova I, Zaidi SH.
    Eur J Pediatr; 2010 Jun; 169(6):661-6. PubMed ID: 20182745
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  • 27. 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
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  • 28. Association of HAX1 deficiency with neurological disorder.
    Rezaei N, Chavoshzadeh Z, R Alaei O, Sandrock I, Klein C.
    Neuropediatrics; 2007 Oct; 38(5):261-3. PubMed ID: 18330843
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  • 29. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.
    Horwitz M, Benson KF, Person RE, Aprikyan AG, Dale DC.
    Nat Genet; 1999 Dec; 23(4):433-6. PubMed ID: 10581030
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  • 32. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.
    Xia J, Bolyard AA, Rodger E, Stein S, Aprikyan AA, Dale DC, Link DC.
    Br J Haematol; 2009 Nov; 147(4):535-42. PubMed ID: 19775295
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  • 33. Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: haplotype analysis using intragenic thyroglobulin polymorphisms.
    Caputo M, Rivolta CM, Gutnisky VJ, Gruñeiro-Papendieck L, Chiesa A, Medeiros-Neto G, González-Sarmiento R, Targovnik HM.
    J Endocrinol; 2007 Oct; 195(1):167-77. PubMed ID: 17911408
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  • 35. Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation.
    Cekic S, Saglam H, Gorukmez O, Yakut T, Tarim O, Kilic SS.
    J Clin Immunol; 2017 Aug; 37(6):524-528. PubMed ID: 28681255
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  • 38. MYOC gene mutations in Spanish patients with autosomal dominant primary open-angle glaucoma: a founder effect in southeast Spain.
    Campos-Mollo E, Sánchez-Sánchez F, López-Garrido MP, López-Sánchez E, López-Martínez F, Escribano J.
    Mol Vis; 2007 Sep 13; 13():1666-73. PubMed ID: 17893668
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  • 39. HAX1 mutation in an infant with severe congenital neutropenia.
    Eghbali A, Eshghi P, Malek F, Abdollahpour H, Rezaei N.
    Turk J Pediatr; 2010 Sep 13; 52(1):81-4. PubMed ID: 20402072
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  • 40. A comparison of the defective granulopoiesis in childhood cyclic neutropenia and in severe congenital neutropenia.
    Sera Y, Kawaguchi H, Nakamura K, Sato T, Habara M, Okada S, Ishikawa N, Kojima S, Katoh O, Kobayashi M.
    Haematologica; 2005 Aug 13; 90(8):1032-41. PubMed ID: 16079102
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