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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

255 related items for PubMed ID: 22428873

  • 21.
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  • 22. Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly.
    Umair M, Wasif N, Albalawi AM, Ramzan K, Alfadhel M, Ahmad W, Basit S.
    Mol Genet Genomic Med; 2019 Jul; 7(7):e00627. PubMed ID: 31115189
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  • 27. 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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  • 29. A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?
    Akarsu AN, Akhan O, Sayli BS, Sayli U, Baskaya G, Sarfarazi M.
    J Med Genet; 1995 Jun; 32(6):435-41. PubMed ID: 7666394
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  • 31. [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; 38(4):219-26. PubMed ID: 9527389
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  • 34. A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote.
    Kariminejad A, Ghaderi-Sohi S, Keshavarz E, Hashemi SA, Parsimehr E, Szenker-Ravi E, Khatoo M, Faraji Zonooz M, Reversade B, Najmabadi H, Hennekam RC.
    Clin Genet; 2020 Jun; 97(6):915-919. PubMed ID: 32112393
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  • 35. Autosomal dominant inheritance of hypothalamic hamartoma associated with polysyndactyly: heterogeneity or variable expressivity?
    Grebe TA, Clericuzio C.
    Am J Med Genet; 1996 Dec 11; 66(2):129-37. PubMed ID: 8958318
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  • 38. New type of synpolydactyly of hands and feet in two unrelated males.
    Sugiura Y, Lenz W.
    Am J Med Genet; 1999 Apr 23; 83(5):353-5. PubMed ID: 10232741
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  • 40. Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.
    Debeer P, Peeters H, Driess S, De Smet L, Freese K, Matthijs G, Bornholdt D, Devriendt K, Grzeschik KH, Fryns JP, Kalff-Suske M.
    Am J Med Genet A; 2003 Jul 01; 120A(1):49-58. PubMed ID: 12794692
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