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Journal Abstract Search

211 related items for PubMed ID: 21636067

  • 21.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 22. Congenital hypertrichosis universalis in Mexican female twins.
    Cervantes A, García-Delgado C, Fernández-Ramírez F, Valencia-Herrera A, Kofman S, Morán-Barroso V.
    Int J Dermatol; 2016 Jan; 55(1):e29-31. PubMed ID: 26518157
    [No Abstract] [Full Text] [Related]

  • 23. Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.
    Solomon NM, Ross SA, Forrest SM, Thomas PQ, Morgan T, Belsky JL, Hol FA, Karnes PS, Hopwood NJ, Myers SE, Tan AS, Warne GL.
    J Med Genet; 2007 Apr; 44(4):e75. PubMed ID: 17400794
    [No Abstract] [Full Text] [Related]

  • 24. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 25. Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH.
    Neill NJ, Ballif BC, Lamb AN, Parikh S, Ravnan JB, Schultz RA, Torchia BS, Rosenfeld JA, Shaffer LG.
    Genome Res; 2011 Apr; 21(4):535-44. PubMed ID: 21383316
    [Abstract] [Full Text] [Related]

  • 26. Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome.
    Kurban M, Kim CA, Kiuru M, Fantauzzo K, Cabral R, Abbas O, Levy B, Christiano AM.
    Dermatology; 2011 Apr; 223(4):316-20. PubMed ID: 22310962
    [Abstract] [Full Text] [Related]

  • 27. A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice.
    Fantauzzo KA, Tadin-Strapps M, You Y, Mentzer SE, Baumeister FA, Cianfarani S, Van Maldergem L, Warburton D, Sundberg JP, Christiano AM.
    Hum Mol Genet; 2008 Nov 15; 17(22):3539-51. PubMed ID: 18713754
    [Abstract] [Full Text] [Related]

  • 28. Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing.
    Ratnamala U, Lyle R, Rawal R, Singh R, Vishnupriya S, Himabindu P, Rao V, Aggarwal S, Paluru P, Bartoloni L, Young TL, Paoloni-Giacobino A, Morris MA, Nath SK, Antonarakis SE, Radhakrishna U.
    Invest Ophthalmol Vis Sci; 2011 Aug 29; 52(9):6814-9. PubMed ID: 21357393
    [Abstract] [Full Text] [Related]

  • 29. A novel locus for X-linked congenital cataract on Xq24.
    Craig JE, Friend KL, Gecz J, Rattray KM, Troski M, Mackey DA, Burdon KP.
    Mol Vis; 2008 Apr 18; 14():721-6. PubMed ID: 18431456
    [Abstract] [Full Text] [Related]

  • 30.
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  • 31. Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.
    Brewer MH, Chaudhry R, Qi J, Kidambi A, Drew AP, Menezes MP, Ryan MM, Farrar MA, Mowat D, Subramanian GM, Young HK, Zuchner S, Reddel SW, Nicholson GA, Kennerson ML.
    PLoS Genet; 2016 Jul 18; 12(7):e1006177. PubMed ID: 27438001
    [Abstract] [Full Text] [Related]

  • 32.
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    [No Abstract] [Full Text] [Related]

  • 33. X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase.
    Andrew Nesbit M, Bowl MR, Harding B, Schlessinger D, Whyte MP, Thakker RV.
    Genomics; 2004 Dec 18; 84(6):1060-70. PubMed ID: 15533723
    [Abstract] [Full Text] [Related]

  • 34. A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family.
    Guo H, Xu X, Wang K, Zhang B, Deng G, Wang Y, Bai Y.
    J Genet; 2009 Apr 18; 88(1):87-91. PubMed ID: 19417549
    [No Abstract] [Full Text] [Related]

  • 35.
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  • 36. Congenital hypopituitarism in two brothers with a duplication of the 'acrogigantism gene' GPR101: clinical findings and review of the literature.
    Elizabeth MSM, Verkerk AJMH, Hokken-Koelega ACS, Verlouw JAM, Argente J, Pfaeffle R, Neggers SJCMM, Visser JA, de Graaff LCG.
    Pituitary; 2021 Apr 18; 24(2):229-241. PubMed ID: 33184694
    [Abstract] [Full Text] [Related]

  • 37. Palindrome-mediated and replication-dependent pathogenic structural rearrangements within the NF1 gene.
    Hsiao MC, Piotrowski A, Alexander J, Callens T, Fu C, Mikhail FM, Claes KB, Messiaen L.
    Hum Mutat; 2014 Jul 18; 35(7):891-8. PubMed ID: 24760680
    [Abstract] [Full Text] [Related]

  • 38. Narrowing the Genomic Region of Autosomal-Dominant Congenital Generalized Hypertrichosis Terminalis.
    Mo R, Xu Z, Wang H, Yan W, Jiang X, Lin Z.
    JAMA Dermatol; 2021 Jun 01; 157(6):733-735. PubMed ID: 33881458
    [No Abstract] [Full Text] [Related]

  • 39. Two novel types of contiguous gene deletion of the AVPR2 and ARHGAP4 genes in unrelated Japanese kindreds with nephrogenic diabetes insipidus.
    Demura M, Takeda Y, Yoneda T, Furukawa K, Usukura M, Itoh Y, Mabuchi H.
    Hum Mutat; 2002 Jan 01; 19(1):23-9. PubMed ID: 11754100
    [Abstract] [Full Text] [Related]

  • 40. A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.
    He X, Gu F, Wang Y, Yan J, Zhang M, Huang S, Ma X.
    Mol Vis; 2008 Jan 11; 14():56-60. PubMed ID: 18246032
    [Abstract] [Full Text] [Related]

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