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Journal Abstract Search

127 related items for PubMed ID: 8946115

  • 1. Triphalangeal thumb and brachyectrodactyly syndrome: an uncommon entity with evidence of geographic distribution.
    Zenteno JC, Aguinaga M, Chávez V, Sastré N, Rivera MR, Kofman-Alfaro S.
    Clin Genet; 1996 Sep; 50(3):152-5. PubMed ID: 8946115
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  • 2. Mutational analysis of HOXD13 and HOXA13 genes in the triphalangeal thumb-brachyectrodactyly syndrome.
    Pérez-Cabrera A, Kofman-Alfaro S, Zenteno JC.
    J Orthop Res; 2002 Sep; 20(5):899-901. PubMed ID: 12382951
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  • 3. Triphalangeal thumb and brachy-ectrodactyly syndrome. Confirmation of autosomal dominant inheritance.
    Silengo MC, Biagioli M, Bell GL, Bona G, Franceschini P.
    Clin Genet; 1987 Jan; 31(1):13-8. PubMed ID: 3568429
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  • 6. 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
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  • 8. Phenotypic analysis of triphalangeal thumb and associated hand malformations.
    Zguricas J, Snijders PJ, Hovius SE, Heutink P, Oostra BA, Lindhout D.
    J Med Genet; 1994 Jun 17; 31(6):462-7. PubMed ID: 8071973
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  • 10. A new syndrome of triphalangeal thumbs and brachy-ectrodactyly.
    Carnevale A, Hernández M, del Castillo V, Torres P.
    Clin Genet; 1980 Oct 17; 18(4):244-52. PubMed ID: 7438506
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  • 11. [Hypoplasia of the tibia, polydactyly, and triphalangeal thumb: 1st family described in Venezuela].
    Martínez-Basalo C, González-Inciarte ME, Delgado-Luengo W, Casilla-Nava S, González-Incíarte L, Alvarez-Nava F, Boscán-Porras N, Delgado-Luengo J.
    Invest Clin; 1997 Dec 17; 38(4):219-26. PubMed ID: 9527389
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  • 12. The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q.
    Heutink P, Zguricas J, van Oosterhout L, Breedveld GJ, Testers L, Sandkuijl LA, Snijders PJ, Weissenbach J, Lindhout D, Hovius SE.
    Nat Genet; 1994 Mar 17; 6(3):287-92. PubMed ID: 8012392
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  • 13. Polydactyly, triphalangism of the thumb, and carpal abnormalities in a family.
    Cowell HR.
    Clin Orthop Relat Res; 2005 May 17; (434):16-25. PubMed ID: 15864027
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  • 14. Triphalangeal thumb and psychomotor retardation: a new association?
    Rodriguez-Rojas LX, Macias NM, Barros-Nuñez P.
    Genet Couns; 2003 May 17; 14(1):39-43. PubMed ID: 12725588
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  • 15. Absent tibiae, triphalangeal thumbs and polydactyly: description of a family and prenatal diagnosis.
    Canún S, Lomelí RM, Martínez R, Carnevale A.
    Clin Genet; 1984 Feb 17; 25(2):182-6. PubMed ID: 6705252
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  • 16. A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.
    Wieczorek D, Pawlik B, Li Y, Akarsu NA, Caliebe A, May KJ, Schweiger B, Vargas FR, Balci S, Gillessen-Kaesbach G, Wollnik B.
    Hum Mutat; 2010 Jan 17; 31(1):81-9. PubMed ID: 19847792
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  • 17. A syndrome of polydactyly-syndactyly and triphalangeal thumbs in three generations.
    Yujnovsky O, Ayala D, Vincitorio A, Viale H, Sakati N, Nyhan WL.
    Clin Genet; 1974 Jan 17; 6(1):51-9. PubMed ID: 4372010
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  • 18. Absent tibiae--polydactyly--triphalangeal thumbs with fibular dimelia: variable expression of the Werner (McKusick 188770) syndrome?
    Vargas FR, Pontes RL, Llerena Júnior JC, de Almeida JC.
    Am J Med Genet; 1995 Jan 30; 55(3):261-4. PubMed ID: 7726219
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  • 19. Familial opposable triphalangeal thumbs associated with duplication of the big toes.
    Merlob P, Grunebaum M, Reisner SH.
    J Med Genet; 1985 Feb 30; 22(1):78-80. PubMed ID: 3981586
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