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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

198 related items for PubMed ID: 10970192

  • 1. Liebenberg syndrome: brachydactyly with joint dysplasia (MIM 186550): a second family.
    Tiberio G, Diglio MC, Graziani M, Testa F, Giannotti A.
    J Med Genet; 2000 Jul; 37(7):548-51. PubMed ID: 10970192
    [No Abstract] [Full Text] [Related]

  • 2. Liebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristics.
    Al-Qattan MM, Al-Thunayan A, Alabdulkareem I, Al Balwi M.
    Gene; 2013 Jul 15; 524(1):65-71. PubMed ID: 23587911
    [Abstract] [Full Text] [Related]

  • 3. The Liebenberg syndrome: in depth analysis of the original family.
    Mennen U, Mundlos S, Spielmann M.
    J Hand Surg Eur Vol; 2014 Nov 15; 39(9):919-25. PubMed ID: 23940102
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  • 4. Brachydactyly type C.
    Burgess RC.
    J Hand Surg Am; 2001 Jan 15; 26(1):31-9. PubMed ID: 11172365
    [Abstract] [Full Text] [Related]

  • 5. Cooks syndrome: a case report and brief review.
    Brennan CB, Buehler T, Lesher JL.
    Pediatr Dermatol; 2013 Jan 15; 30(4):e52-3. PubMed ID: 22329539
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  • 6. Leri-Weill syndrome (dyschondrosteosis): a family study.
    Mohan V, Gupta RP, Helmi K, Marklund T.
    J Hand Surg Br; 1988 Feb 15; 13(1):16-8. PubMed ID: 3361200
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  • 7. Brachydactyly type A1 with short humerus and associated skeletal features.
    Lacombe D, Delrue MA, Rooryck C, Morice-Picard F, Arveiler B, Maugey-Laulom B, Mundlos S, Toutain A, Chateil JF.
    Am J Med Genet A; 2010 Dec 15; 152A(12):3016-21. PubMed ID: 21077205
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  • 8. Brachydactyly in a child with duplication-deficiency subsequent to t(15;20)(q25.2;p12.2)mat. Candidate regions on one or both chromosomes?
    Pfeiffer RA, Kändler C, Sieber E, Rauch A, Trautmann U.
    Clin Genet; 1997 May 15; 51(5):357-60. PubMed ID: 9212188
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  • 11. Pitfalls of genetic counselling in brachydactyly type C.
    Camera G, Camera A, Costa M, Mantero R.
    Am J Med Genet; 1994 Nov 01; 53(2):199-201. PubMed ID: 7856649
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  • 14. H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome.
    Kragesteen BK, Brancati F, Digilio MC, Mundlos S, Spielmann M.
    J Med Genet; 2019 Apr 01; 56(4):246-251. PubMed ID: 30711920
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  • 15. Hand involvement in Schmid metaphyseal chondrodysplasia.
    Elliott AM, Field FM, Rimoin DL, Lachman RS.
    Am J Med Genet A; 2005 Jan 15; 132A(2):191-3. PubMed ID: 15578582
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  • 16. Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.
    Douzgou S, Lehmann K, Mingarelli R, Mundlos S, Dallapiccola B.
    Am J Med Genet A; 2008 Aug 15; 146A(16):2116-21. PubMed ID: 18629880
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  • 17. Hand involvement in 13q deletion syndrome.
    Grindel SI, Sandlin C, Wood VE.
    J Pediatr Orthop; 1999 Aug 15; 19(5):620-3. PubMed ID: 10488863
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  • 18. Symphalangism and brachydactyly syndrome: report of the WL symphalangism-brachydactyly syndrome: review of literature and classification.
    Herrmann J.
    Birth Defects Orig Artic Ser; 1974 Aug 15; 10(5):23-53. PubMed ID: 4469994
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  • 20. A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome.
    Seoighe DM, Gadancheva V, Regan R, McDaid J, Brenner C, Ennis S, Betts DR, Eadie PA, Lynch SA.
    Am J Med Genet A; 2014 Nov 15; 164A(11):2958-60. PubMed ID: 25124102
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