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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

109 related items for PubMed ID: 14767912

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  • 2. Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.
    Schwabe GC, Tinschert S, Buschow C, Meinecke P, Wolff G, Gillessen-Kaesbach G, Oldridge M, Wilkie AO, Kömec R, Mundlos S.
    Am J Hum Genet; 2000 Oct; 67(4):822-31. PubMed ID: 10986040
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  • 3. [Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1].
    Li CM, Wang FY, Sun WW, Han SL, Chang MX, Feng HG.
    Yi Chuan; 2011 Feb; 33(2):147-52. PubMed ID: 21377971
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  • 5. Brachydactyly type B1: report of a family with de novo ROR2 mutation.
    Hamamy H, Saleh N, Oldridge M, Al-Hadidy A, Ajlouni K.
    Clin Genet; 2006 Dec; 70(6):538-40. PubMed ID: 17101003
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  • 6. [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
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  • 14. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.
    Afzal AR, Rajab A, Fenske CD, Oldridge M, Elanko N, Ternes-Pereira E, Tüysüz B, Murday VA, Patton MA, Wilkie AO, Jeffery S.
    Nat Genet; 2000 Aug 14; 25(4):419-22. PubMed ID: 10932186
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  • 16. ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome.
    Bacchelli C, Wilson LC, Cook JA, Winter RM, Goodman FR.
    Clin Genet; 2003 Sep 14; 64(3):263-5. PubMed ID: 12919145
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  • 17. Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho-rhino-phalangeal syndrome type III.
    Ullah A, Umair M, Hussain S, Jan A, Ahmad W.
    Pediatr Int; 2018 Mar 14; 60(3):304-306. PubMed ID: 29436063
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  • 18. A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2.
    Armour CM, McCready ME, Baig A, Hunter AG, Bulman DE.
    J Med Genet; 2002 Mar 14; 39(3):186-8. PubMed ID: 11897820
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  • 19. Pregnancy after preimplantation genetic diagnosis for brachydactyly type B.
    Hellani A, Abu-Amero K, Azouri J, Al-Sharif H, Barblet H, El-Akoum S.
    Reprod Biomed Online; 2009 Jan 14; 18(1):127-31. PubMed ID: 19146779
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  • 20. Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family.
    Giordano N, Gennari L, Bruttini M, Mari F, Meloni I, Baldi C, Capoccia S, Geraci S, Merlotti D, Amendola A, Martini G, Nuti R, Gennari C, Renieri A.
    J Med Genet; 2003 Feb 14; 40(2):132-5. PubMed ID: 12566523
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