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Journal Abstract Search

255 related items for PubMed ID: 22428873

  • 1. A novel frameshift mutation of the GLI3 gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands/feet.
    Al-Qattan MM.
    Clin Genet; 2012 Nov; 82(5):502-4. PubMed ID: 22428873
    [No Abstract] [Full Text] [Related]

  • 2. Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients.
    Wang Z, Wang J, Li Y, Geng J, Fu Q, Xu Y, Shen Y.
    Clin Chim Acta; 2014 Jun 10; 433():195-9. PubMed ID: 24667698
    [Abstract] [Full Text] [Related]

  • 3. Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation.
    Mumtaz S, Yıldız E, Lal K, Tolun A, Malik S.
    Eur J Med Genet; 2017 May 10; 60(5):268-274. PubMed ID: 28315472
    [Abstract] [Full Text] [Related]

  • 4. A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex.
    Volodarsky M, Langer Y, Birk OS.
    BMC Med Genet; 2014 Sep 30; 15():110. PubMed ID: 25267529
    [Abstract] [Full Text] [Related]

  • 5. Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I.
    Fujioka H, Ariga T, Horiuchi K, Otsu M, Igawa H, Kawashima K, Yamamoto Y, Sugihara T, Sakiyama Y.
    Clin Genet; 2005 May 30; 67(5):429-33. PubMed ID: 15811011
    [Abstract] [Full Text] [Related]

  • 6. Phenotypic variability of triphalangeal thumb-polysyndactyly syndrome linked to chromosome 7q36.
    Balci S, Demirtas M, Civelek B, Piskin M, Sensoz O, Akarsu AN.
    Am J Med Genet; 1999 Dec 22; 87(5):399-406. PubMed ID: 10594878
    [Abstract] [Full Text] [Related]

  • 7. Novel GLI3 mutation in a Greek-Cypriot patient with Greig cephalopolysyndactyly syndrome.
    Tanteles GA, Michaelidou S, Loukianou E, Christophidou-Anastasiadou V, Kleopa KA.
    Clin Dysmorphol; 2015 Jul 22; 24(3):102-5. PubMed ID: 25714367
    [Abstract] [Full Text] [Related]

  • 8. Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family.
    Kantaputra PN, Chalidapong P.
    Am J Med Genet; 2000 Jul 17; 93(2):126-31. PubMed ID: 10869115
    [Abstract] [Full Text] [Related]

  • 9. Crossed polydactyly type I caused by a point mutation in the GLI3 gene in a large Chinese pedigree.
    Cheng B, Dong Y, He L, Tang W, Yu H, Lu J, Xu L, Zheng B, Li K, Xiao C.
    J Clin Lab Anal; 2006 Jul 17; 20(4):133-8. PubMed ID: 16874813
    [Abstract] [Full Text] [Related]

  • 10. Letter to the editor regarding: "Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients" Clinica Chimica acta 433 (2014) 195-199.
    Baas M, Galjaard RJ, der Spek Pv, Hovius SE, van Nieuwenhoven CA.
    Clin Chim Acta; 2015 Jul 20; 447():71. PubMed ID: 25869409
    [No Abstract] [Full Text] [Related]

  • 11. A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies.
    Crapster JA, Hudgins L, Chen JK, Gomez-Ospina N.
    Am J Med Genet A; 2017 Dec 20; 173(12):3221-3225. PubMed ID: 28884880
    [Abstract] [Full Text] [Related]

  • 12. A novel frameshift variant in BHLHA9 underlies mesoaxial synostotic syndactyly associated with postaxial polydactyly.
    Khan F, Arshad A, Majeed AI, Ullah A, Ahmad W.
    Eur J Med Genet; 2019 Aug 20; 62(8):103688. PubMed ID: 31152918
    [Abstract] [Full Text] [Related]

  • 13. A Novel Frameshift Mutation of GLI3 Causes Isolated Postaxial Polydactyly.
    Ni F, Han G, Guo R, Cui H, Wang B, Li Q.
    Ann Plast Surg; 2019 May 20; 82(5):570-573. PubMed ID: 30562203
    [Abstract] [Full Text] [Related]

  • 14. A novel frame-shift mutation of GLI3 causes non-syndromic and complex digital anomalies in a Chinese family.
    Cheng F, Ke X, Lv M, Zhang F, Li C, Zhang X, Zhang Y, Zhao X, Wang X, Liu B, Han J, Li Y, Zeng C, Li S.
    Clin Chim Acta; 2011 May 12; 412(11-12):1012-7. PubMed ID: 21320477
    [Abstract] [Full Text] [Related]

  • 15. GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.
    Patel R, Singh CB, Bhattacharya V, Singh SK, Ali A.
    Congenit Anom (Kyoto); 2016 Mar 12; 56(2):94-7. PubMed ID: 26508445
    [Abstract] [Full Text] [Related]

  • 16. A and B preaxial polydactyly with syndactyly of feet and hands in the same person--a case report.
    Gawlikowska-Sroka A, Tudaj W, Czerwiński F.
    Adv Med Sci; 2009 Mar 12; 54(2):305-7. PubMed ID: 20053619
    [Abstract] [Full Text] [Related]

  • 17. Two Indian families with Greig cephalopolysyndactyly with non-syndromic phenotype.
    Sethi SK, Goyal D, Khalil S, Yadav DK.
    Eur J Pediatr; 2013 Aug 12; 172(8):1131-5. PubMed ID: 23334564
    [Abstract] [Full Text] [Related]

  • 18. Exome sequencing reveals a novel nonsense mutation of GLI3 in a Chinese family with 'non-syndromic' pre-axial polydactyly.
    Xiang Y, Wang Z, Bian J, Xu Y, Fu Q.
    J Hum Genet; 2016 Oct 12; 61(10):907-910. PubMed ID: 27305983
    [Abstract] [Full Text] [Related]

  • 19. A hereditable combination of congenital anomalies.
    Agarwal RP, Jain D, Ramesh Babu CS, Garg RK.
    J Bone Joint Surg Br; 1996 May 12; 78(3):492-4. PubMed ID: 8636194
    [Abstract] [Full Text] [Related]

  • 20. A nonclassified and unusual polydactyly of the foot.
    De Smet L.
    Genet Couns; 2007 May 12; 18(2):251-4. PubMed ID: 17710879
    [Abstract] [Full Text] [Related]

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