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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

112 related items for PubMed ID: 34580524

  • 21. Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.
    Kaasinen E, Rahikkala E, Koivunen P, Miettinen S, Wamelink MM, Aavikko M, Palin K, Myllyharju J, Moilanen JS, Pajunen L, Karhu A, Aaltonen LA.
    Eur J Med Genet; 2014 Oct; 57(10):543-51. PubMed ID: 25078763
    [Abstract] [Full Text] [Related]

  • 22. SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
    Garshasbi M, Motazacker MM, Kahrizi K, Behjati F, Abedini SS, Nieh SE, Firouzabadi SG, Becker C, Rüschendorf F, Nürnberg P, Tzschach A, Vazifehmand R, Erdogan F, Ullmann R, Lenzner S, Kuss AW, Ropers HH, Najmabadi H.
    Hum Genet; 2006 Feb; 118(6):708-15. PubMed ID: 16311745
    [Abstract] [Full Text] [Related]

  • 23. Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations.
    Forshew T, Johnson CA, Khaliq S, Pasha S, Willis C, Abbasi R, Tee L, Smith U, Trembath RC, Mehdi SQ, Moore AT, Maher ER.
    Hum Genet; 2005 Sep; 117(5):452-9. PubMed ID: 15959809
    [Abstract] [Full Text] [Related]

  • 24. Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.
    Çalışkan M, Chong JX, Uricchio L, Anderson R, Chen P, Sougnez C, Garimella K, Gabriel SB, dePristo MA, Shakir K, Matern D, Das S, Waggoner D, Nicolae DL, Ober C.
    Hum Mol Genet; 2011 Apr 01; 20(7):1285-9. PubMed ID: 21212097
    [Abstract] [Full Text] [Related]

  • 25. Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.
    Khan MA, Rafiq MA, Noor A, Hussain S, Flores JV, Rupp V, Vincent AK, Malli R, Ali G, Khan FS, Ishak GE, Doherty D, Weksberg R, Ayub M, Windpassinger C, Ibrahim S, Frye M, Ansar M, Vincent JB.
    Am J Hum Genet; 2012 May 04; 90(5):856-63. PubMed ID: 22541562
    [Abstract] [Full Text] [Related]

  • 26. Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.
    Mir A, Kaufman L, Noor A, Motazacker MM, Jamil T, Azam M, Kahrizi K, Rafiq MA, Weksberg R, Nasr T, Naeem F, Tzschach A, Kuss AW, Ishak GE, Doherty D, Ropers HH, Barkovich AJ, Najmabadi H, Ayub M, Vincent JB.
    Am J Hum Genet; 2009 Dec 04; 85(6):909-15. PubMed ID: 20004765
    [Abstract] [Full Text] [Related]

  • 27. Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13.
    Nolan DK, Chen P, Das S, Ober C, Waggoner D.
    Am J Med Genet A; 2008 Jun 01; 146A(11):1414-22. PubMed ID: 18446860
    [Abstract] [Full Text] [Related]

  • 28. Non-syndromic Intellectual Disability: An Experimental In-Depth Exploration of Inheritance Pattern, Phenotypic Presentation, and Genomic Composition.
    Ali Khan Q, Khan R, Verma R, Shah SD, Vattikuti B, Khan AZ, Shahzadi A, Abdi P, Anthony M, Farkouh CS, Farkouh M, Santiago N, Zepeda D, Nunez A.
    Cureus; 2023 Jan 01; 15(1):e34085. PubMed ID: 36843831
    [Abstract] [Full Text] [Related]

  • 29. Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders.
    Carr IM, Szymanska K, Sheridan E, Markham AF, Bonthron DT, Johnson CA.
    Hum Mutat; 2009 Dec 01; 30(12):1642-9. PubMed ID: 19842213
    [Abstract] [Full Text] [Related]

  • 30. Description of novel variants in consanguineous Pakistani families affected with intellectual disability.
    Rasool IG, Zahoor MY, Ahmed I, Iqbal M, Shafqat S, Anjum AA, Shehzad W.
    Genes Genomics; 2023 Apr 01; 45(4):457-465. PubMed ID: 35150401
    [Abstract] [Full Text] [Related]

  • 31. The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis.
    Petukhova L, Shimomura Y, Wajid M, Gorroochurn P, Hodge SE, Christiano AM.
    Hum Hered; 2009 Apr 01; 68(2):117-30. PubMed ID: 19365138
    [Abstract] [Full Text] [Related]

  • 32. Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.
    Li L, Chen Y, Jiao X, Jin C, Jiang D, Tanwar M, Ma Z, Huang L, Ma X, Sun W, Chen J, Ma Y, M'hamdi O, Govindarajan G, Cabrera PE, Li J, Gupta N, Naeem MA, Khan SN, Riazuddin S, Akram J, Ayyagari R, Sieving PA, Riazuddin SA, Hejtmancik JF.
    Invest Ophthalmol Vis Sci; 2017 Apr 01; 58(4):2218-2238. PubMed ID: 28418496
    [Abstract] [Full Text] [Related]

  • 33. Genetics of non-syndromic autosomal recessive mental retardation.
    Afroze B, Chaudhry B.
    J Pak Med Assoc; 2013 Jan 01; 63(1):106-10. PubMed ID: 23865144
    [Abstract] [Full Text] [Related]

  • 34. A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.
    Kakar N, Goebel I, Daud S, Nürnberg G, Agha N, Ahmad A, Nürnberg P, Kubisch C, Ahmad J, Borck G.
    Eur J Med Genet; 2012 Dec 01; 55(12):727-31. PubMed ID: 22989526
    [Abstract] [Full Text] [Related]

  • 35. Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel.
    Basel-Vanagaite L, Taub E, Halpern GJ, Drasinover V, Magal N, Davidov B, Zlotogora J, Shohat M.
    Eur J Hum Genet; 2007 Feb 01; 15(2):250-3. PubMed ID: 17149387
    [Abstract] [Full Text] [Related]

  • 36. Localization of a novel autosomal recessive non-syndromic hearing impairment locus (DFNB38) to 6q26-q27 in a consanguineous kindred from Pakistan.
    Ansar M, Ramzan M, Pham TL, Yan K, Jamal SM, Haque S, Ahmad W, Leal SM.
    Hum Hered; 2003 Feb 01; 55(1):71-4. PubMed ID: 12890929
    [Abstract] [Full Text] [Related]

  • 37.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 38.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 39.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 40.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 6.