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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

200 related items for PubMed ID: 12072797

  • 21. A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin.
    Malik S, Arshad M, Amin-Ud-Din M, Oeffner F, Dempfle A, Haque S, Koch MC, Ahmad W, Grzeschik KH.
    Am J Med Genet A; 2004 Apr 01; 126A(1):61-7. PubMed ID: 15039974
    [Abstract] [Full Text] [Related]

  • 22. Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.
    Wang X, Xin Q, Li L, Li J, Zhang C, Qiu R, Qian C, Zhao H, Liu Y, Shan S, Dang J, Bian X, Shao C, Gong Y, Liu Q.
    Eur J Hum Genet; 2014 Sep 01; 22(9):1105-10. PubMed ID: 24496061
    [Abstract] [Full Text] [Related]

  • 23. Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update.
    Gurrieri F, Everman DB.
    Am J Med Genet A; 2013 Nov 01; 161A(11):2860-72. PubMed ID: 24115638
    [Abstract] [Full Text] [Related]

  • 24. Split hand foot malformation (SHFM).
    Elliott AM, Evans JA, Chudley AE.
    Clin Genet; 2005 Dec 01; 68(6):501-5. PubMed ID: 16283879
    [Abstract] [Full Text] [Related]

  • 25. Familial split hand/split foot long bone deficiency does not segregate with markers linked to the SHFD1 locus in 7q21.3-q22.1.
    Marinoni JC, Boyd E, Sherman S, Schwartz C.
    Hum Mol Genet; 1994 Aug 01; 3(8):1355-7. PubMed ID: 7987314
    [Abstract] [Full Text] [Related]

  • 26. Microduplication of BTRC detected in a Chinese family with split hand/foot malformation type 3.
    Qiu L, Li C, Zheng G, Yang T, Yang F.
    Clin Genet; 2022 Nov 01; 102(5):451-456. PubMed ID: 35908152
    [Abstract] [Full Text] [Related]

  • 27. Pathogenesis of split-hand/split-foot malformation.
    Duijf PH, van Bokhoven H, Brunner HG.
    Hum Mol Genet; 2003 Apr 01; 12 Spec No 1():R51-60. PubMed ID: 12668597
    [Abstract] [Full Text] [Related]

  • 28. [A DNA duplication at chromosome 10q24.3 is associated with split-hand split-foot malformation in a Chinese family].
    Yang W, Hu ZJ, Yu XF, Li QH, Zhang AJ, Deng X, Zhang AY, Gao CS, Liu Y, Ao Y, Lo WH, Zhang X.
    Zhonghua Yi Xue Za Zhi; 2006 Mar 14; 86(10):652-8. PubMed ID: 16681918
    [Abstract] [Full Text] [Related]

  • 29. Autosomal recessive malformation syndrome with minor manifestation in the heterozygotes: a preliminary report of a possible new syndrome.
    Paes-Alves AF, Azevêdo ES, Sousa MG, Almeida-Melo N, Oliveira-Filho OJ.
    Am J Med Genet; 1991 Nov 01; 41(2):141-52. PubMed ID: 1785624
    [Abstract] [Full Text] [Related]

  • 30. Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
    Ianakiev P, Kilpatrick MW, Toudjarska I, Basel D, Beighton P, Tsipouras P.
    Am J Hum Genet; 2000 Jul 01; 67(1):59-66. PubMed ID: 10839977
    [Abstract] [Full Text] [Related]

  • 31. Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family.
    Peng Y, Yang S, Xi H, Hu J, Jia Z, Pang J, Liu J, Yu W, Tang C, Wang H.
    Mol Genet Genomic Med; 2021 Mar 01; 9(3):e1604. PubMed ID: 33471964
    [Abstract] [Full Text] [Related]

  • 32. Acheiropody. A report of two cases.
    Kruger LM, Kumar A.
    J Bone Joint Surg Am; 1994 Oct 01; 76(10):1557-60. PubMed ID: 7929505
    [No Abstract] [Full Text] [Related]

  • 33. Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families.
    Aziz A, Irfanullah, Khan S, Zimri FK, Muhammad N, Rashid S, Ahmad W.
    Gene; 2014 Jan 25; 534(2):265-71. PubMed ID: 24211389
    [Abstract] [Full Text] [Related]

  • 34. Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients.
    Elliott AM, Evans JA.
    Am J Med Genet A; 2006 Jul 01; 140(13):1419-27. PubMed ID: 16688749
    [Abstract] [Full Text] [Related]

  • 35. [A pedigree of split hand/split foot malformation].
    Zhou FJ, Xie WM, Zhao XR, Guo ZH.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Oct 01; 29(5):615-6. PubMed ID: 23042405
    [No Abstract] [Full Text] [Related]

  • 36. Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.
    Naveed M, Nath SK, Gaines M, Al-Ali MT, Al-Khaja N, Hutchings D, Golla J, Deutsch S, Bottani A, Antonarakis SE, Ratnamala U, Radhakrishna U.
    Am J Hum Genet; 2007 Jan 01; 80(1):105-11. PubMed ID: 17160898
    [Abstract] [Full Text] [Related]

  • 37. [Genetic analysis of a Chinese pedigree with split hand and foot malformation].
    Yang J, Gao LH, Shu AL, Qin W, Feng GY, He L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Dec 01; 24(6):620-4. PubMed ID: 18067070
    [Abstract] [Full Text] [Related]

  • 38. [Split hand/foot malformation: report of a family with 20 cases].
    Shu A, Yi CN, Liu MM, Huang CQ, Chen S, Yang SM, He Q, Li XD.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Aug 01; 30(4):498-9. PubMed ID: 23926022
    [No Abstract] [Full Text] [Related]

  • 39. A split hand-split foot (SHFM3) gene is located at 10q24-->25.
    Gurrieri F, Prinos P, Tackels D, Kilpatrick MW, Allanson J, Genuardi M, Vuckov A, Nanni L, Sangiorgi E, Garofalo G, Nunes ME, Neri G, Schwartz C, Tsipouras P.
    Am J Med Genet; 1996 Apr 24; 62(4):427-36. PubMed ID: 8723077
    [Abstract] [Full Text] [Related]

  • 40. Genetics of split hand and split foot. A case study.
    Caldwell BD.
    J Am Podiatr Med Assoc; 1996 Jun 24; 86(6):244-8. PubMed ID: 8699344
    [Abstract] [Full Text] [Related]

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