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Journal Abstract Search

102 related items for PubMed ID: 28630650

  • 21. Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern.
    Wolff DJ, Gustashaw KM, Zurcher V, Ko L, White W, Weiss L, Van Dyke DL, Schwartz S, Willard HF.
    Hum Genet; 1997 Aug; 100(2):256-61. PubMed ID: 9254860
    [Abstract] [Full Text] [Related]

  • 22. Choroideremia: further evidence for assignment of the locus to Xq13-Xq21.
    Schwartz M, Rosenberg T, Niebuhr E, Lundsteen C, Sardemann H, Andersen O, Yang HM, Lamm LU.
    Hum Genet; 1986 Dec; 74(4):449-52. PubMed ID: 2878872
    [Abstract] [Full Text] [Related]

  • 23. Linkage studies and deletion screening in choroideremia.
    Wright AF, Nussbaum RL, Bhattacharya SS, Jay M, Lesko JG, Evans HJ, Jay B.
    J Med Genet; 1990 Aug; 27(8):496-8. PubMed ID: 1976814
    [Abstract] [Full Text] [Related]

  • 24. Molecular characterization of a deleted X chromosome (Xq13.3-Xq21.31) exhibiting random X inactivation.
    Migeon BR, Stetten G, Tuck-Muller C, Axelman J, Jani M, Dungy D.
    Somat Cell Mol Genet; 1995 Mar; 21(2):113-20. PubMed ID: 7570183
    [Abstract] [Full Text] [Related]

  • 25. Cloning and characterization of the human choroideremia gene.
    van Bokhoven H, van den Hurk JA, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, Ropers HH, Cremers FP.
    Hum Mol Genet; 1994 Jul; 3(7):1041-6. PubMed ID: 7981670
    [Abstract] [Full Text] [Related]

  • 26. Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation.
    Lorda-Sanchez IJ, Ibañez AJ, Sanz RJ, Trujillo MJ, Anabitarte ME, Querejeta ME, Rodriguez de Alba M, Gimenez A, Infantes F, Ramos C, Garcia-Sandoval B, Ayuso C.
    Ophthalmic Genet; 2000 Sep; 21(3):185-9. PubMed ID: 11035551
    [Abstract] [Full Text] [Related]

  • 27. Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4.
    de Kok YJ, Vossenaar ER, Cremers CW, Dahl N, Laporte J, Hu LJ, Lacombe D, Fischel-Ghodsian N, Friedman RA, Parnes LS, Thorpe P, Bitner-Glindzicz M, Pander HJ, Heilbronner H, Graveline J, den Dunnen JT, Brunner HG, Ropers HH, Cremers FP.
    Hum Mol Genet; 1996 Sep; 5(9):1229-35. PubMed ID: 8872461
    [Abstract] [Full Text] [Related]

  • 28. Isolation of a candidate gene for choroideremia.
    Merry DE, Jänne PA, Landers JE, Lewis RA, Nussbaum RL.
    Proc Natl Acad Sci U S A; 1992 Mar 15; 89(6):2135-9. PubMed ID: 1549574
    [Abstract] [Full Text] [Related]

  • 29. A novel mutation of X-linked recessive deafness gene POU3F4 in a boy with congenital deafness.
    Yu R, Wang K, Xiong Y, Jiang H.
    Laryngoscope Investig Otolaryngol; 2022 Aug 15; 7(4):1150-1154. PubMed ID: 36000053
    [Abstract] [Full Text] [Related]

  • 30. Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family.
    Qi Z, Jeng LJ, Slavotinek A, Yu J.
    BMC Med Genomics; 2015 Jul 15; 8():38. PubMed ID: 26174853
    [Abstract] [Full Text] [Related]

  • 31. Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region.
    Gabbett MT, Peters GB, Carmichael JM, Darmanian AP, Collins FA.
    Clin Genet; 2008 Apr 15; 73(4):353-9. PubMed ID: 18279435
    [Abstract] [Full Text] [Related]

  • 32. Phenotype variations within a choroideremia family lacking the entire CHM gene.
    Ponjavic V, Abrahamson M, Andréasson S, Van Bokhoven H, Cremers FP, Ehinger B, Fex G.
    Ophthalmic Genet; 1995 Dec 15; 16(4):143-50. PubMed ID: 8749050
    [Abstract] [Full Text] [Related]

  • 33. Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing.
    van den Hurk JA, van de Pol TJ, Molloy CM, Brunsmann F, Rüther K, Zrenner E, Pinckers AJ, Pawlowitzki IH, Bleeker-Wagemakers EM, Wieringa B.
    Am J Hum Genet; 1992 Jun 15; 50(6):1195-202. PubMed ID: 1598901
    [Abstract] [Full Text] [Related]

  • 34. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.
    Jin H, May M, Tranebjaerg L, Kendall E, Fontán G, Jackson J, Subramony SH, Arena F, Lubs H, Smith S, Stevenson R, Schwartz C, Vetrie D.
    Nat Genet; 1996 Oct 15; 14(2):177-80. PubMed ID: 8841189
    [Abstract] [Full Text] [Related]

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  • 36. Genome-wide SNP array analysis in patients with features of sotos syndrome.
    Visser R, Gijsbers A, Ruivenkamp C, Karperien M, Reeser HM, Breuning MH, Kant SG, Wit JM.
    Horm Res Paediatr; 2010 Oct 15; 73(4):265-74. PubMed ID: 20215773
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  • 38. Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes.
    Jang JH, Oh J, Han JH, Park HR, Kim BJ, Lee S, Kim MY, Lee S, Oh DY, Choung YH, Choi BY.
    Genet Test Mol Biomarkers; 2019 Jun 15; 23(6):423-427. PubMed ID: 31063410
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  • 40. L1 retrotransposition can occur early in human embryonic development.
    van den Hurk JA, Meij IC, Seleme MC, Kano H, Nikopoulos K, Hoefsloot LH, Sistermans EA, de Wijs IJ, Mukhopadhyay A, Plomp AS, de Jong PT, Kazazian HH, Cremers FP.
    Hum Mol Genet; 2007 Jul 01; 16(13):1587-92. PubMed ID: 17483097
    [Abstract] [Full Text] [Related]

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