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Journal Abstract Search

156 related items for PubMed ID: 34924007

  • 1. Co-occurrence of sickle cell disease and oculocutaneous albinism in a Congolese patient: a case report.
    Mbiya Mukinayi B, Mpoyi Kalenda J, Kalombo Kalenda D, Disashi Tumba G, Gulbis B.
    J Med Case Rep; 2021 Dec 19; 15(1):628. PubMed ID: 34924007
    [Abstract] [Full Text] [Related]

  • 2. Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/βthal genotype in an individual from the Democratic Republic of Congo.
    Aquaron R, Lasseaux E, Kelekele J, Bonello-Palot N, Badens C, Arveiler B, Tshilolo L.
    Eur J Med Genet; 2022 Oct 19; 65(10):104594. PubMed ID: 35964929
    [Abstract] [Full Text] [Related]

  • 3. [Awareness and attitudes of 50 congolese families affected by sickle cell disease: a local survey].
    Mukinayi BM, Kalenda DK, Mbelu S, Gulbis B.
    Pan Afr Med J; 2018 Oct 19; 29():24. PubMed ID: 29875906
    [Abstract] [Full Text] [Related]

  • 4. Prevalence of sickle cell disease in a pediatric population suffering from severe infections: a Congolese experience.
    Kondani DA, Gini-Ehungu JL, Bodi JM, Ekulu PM, Kunuanunua TS, Aloni MN.
    Hemoglobin; 2014 Oct 19; 38(4):225-9. PubMed ID: 25023084
    [Abstract] [Full Text] [Related]

  • 5. Severity in phenotypic expression of homozygous sickle cell disease (Hb.SS)--does hypermelanotic or hypomelanotic skin status of affected patients play a role?
    Bakare MO.
    Med Hypotheses; 2011 May 19; 76(5):673-5. PubMed ID: 21288648
    [Abstract] [Full Text] [Related]

  • 6. Ophthalmic features of minimal pigment oculocutaneous albinism.
    Summers CG, King RA.
    Ophthalmology; 1994 May 19; 101(5):906-14. PubMed ID: 8190479
    [Abstract] [Full Text] [Related]

  • 7. Molecular genetic characterization of Congolese patients with oculocutaneous albinism.
    Laetitia MM, Veronique K, Mamy NZ, Cathy SM, Aimé L, Race V, Prosper LT, Devriendt K.
    Eur J Med Genet; 2022 Nov 19; 65(11):104611. PubMed ID: 36116698
    [Abstract] [Full Text] [Related]

  • 8. Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.
    Wang Y, Wang Z, Chen M, Fan N, Yang J, Liu L, Wang Y, Liu X.
    PLoS One; 2015 Nov 19; 10(4):e0125651. PubMed ID: 25919014
    [Abstract] [Full Text] [Related]

  • 9. [Familiar case of granular dystrophy and oculocutaneous albinism].
    Gómez-Valcárcel M, Ching-Wong JL, Alvarez-Verduzco O, Niño-Pecina A, Villanueva-Mendoza C.
    Arch Soc Esp Oftalmol; 2006 May 19; 81(5):289-91. PubMed ID: 16752321
    [Abstract] [Full Text] [Related]

  • 10. Comorbidity of sickle cell trait and albinism: a cross-sectional survey in the Democratic Republic of the Congo.
    Kambale-Kombi P, Djang'eing'a RM, Alworong'a Opara JP, Wa Inena GI, Falay Sadiki D, Boemer F, Bours V, Tshilumba CK, Batina-Agasa S.
    Pan Afr Med J; 2020 May 19; 35():127. PubMed ID: 32637025
    [Abstract] [Full Text] [Related]

  • 11. SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.
    Mauri L, Barone L, Al Oum M, Del Longo A, Piozzi E, Manfredini E, Stanzial F, Benedicenti F, Penco S, Patrosso MC.
    Gene; 2014 Jan 01; 533(1):398-402. PubMed ID: 24096233
    [Abstract] [Full Text] [Related]

  • 12. Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene.
    Aquaron R, Soufir N, Bergé-Lefranc JL, Badens C, Austerlitz F, Grandchamp B.
    J Hum Genet; 2007 Jan 01; 52(9):771-780. PubMed ID: 17767372
    [Abstract] [Full Text] [Related]

  • 13. Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.
    O'Brien KJ, Lozier J, Cullinane AR, Osorio B, Nghiem K, Speransky V, Zein WM, Mullikin JC, Neff AT, Simon KL, Malicdan MC, Gahl WA, Young LR, Gochuico BR.
    Mol Genet Metab; 2016 Nov 01; 119(3):284-287. PubMed ID: 27641950
    [Abstract] [Full Text] [Related]

  • 14. Sickle cell disease presenting with extensive peri-macular arteriolar occlusions in a nine-year-old boy.
    Al-Abdulla NA, Haddock TA, Kerrison JB, Goldberg MF.
    Am J Ophthalmol; 2001 Feb 01; 131(2):275-6. PubMed ID: 11228315
    [Abstract] [Full Text] [Related]

  • 15. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.
    Lee ST, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA.
    N Engl J Med; 1994 Feb 24; 330(8):529-34. PubMed ID: 8302318
    [Abstract] [Full Text] [Related]

  • 16. Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene.
    Schnur RE, Sellinger BT, Holmes SA, Wick PA, Tatsumura YO, Spritz RA.
    J Invest Dermatol; 1996 May 24; 106(5):1137-40. PubMed ID: 8618053
    [Abstract] [Full Text] [Related]

  • 17. Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.
    Khordadpoor-Deilamani F, Akbari MT, Karimipoor M, Javadi G.
    Mol Vis; 2015 May 24; 21():730-5. PubMed ID: 26167114
    [Abstract] [Full Text] [Related]

  • 18. [An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals].
    Sanabria D, Groot H, Guzmán J, Lattig MC.
    Biomedica; 2012 Jun 24; 32(2):269-76. PubMed ID: 23242301
    [Abstract] [Full Text] [Related]

  • 19. Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues.
    Ma EZ, Zhou AE, Hoegler KM, Khachemoune A.
    Arch Dermatol Res; 2023 Mar 24; 315(2):107-116. PubMed ID: 35217926
    [Abstract] [Full Text] [Related]

  • 20. Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.
    Renugadevi K, Sil AK, Perumalsamy V, Sundaresan P.
    Mol Vis; 2010 Aug 09; 16():1514-24. PubMed ID: 20806075
    [Abstract] [Full Text] [Related]

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