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Journal Abstract Search

368 related items for PubMed ID: 18990988

  • 1. Scoliosis, blindness and arachnodactyly in a large Turkish family: is it a new syndrome?
    Dundar M, Erkilic K, Argun M, Caglayan AO, Comeglio P, Koseoglu E, Matyas G, Child AH.
    Genet Couns; 2008; 19(3):319-30. PubMed ID: 18990988
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  • 4. Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study.
    Tsipouras P, Del Mastro R, Sarfarazi M, Lee B, Vitale E, Child AH, Godfrey M, Devereux RB, Hewett D, Steinmann B.
    N Engl J Med; 1992 Apr 02; 326(14):905-9. PubMed ID: 1542340
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  • 6. Dominant inheritance of syn-camptodactyly of the second and third toes with foot and lower limb asymmetry and scoliosis.
    Halal F.
    Am J Med Genet; 1985 Sep 02; 22(1):149-56. PubMed ID: 4050850
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  • 7. "New" syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896.
    Hecht F, Beals RK.
    Pediatrics; 1972 Apr 02; 49(4):574-9. PubMed ID: 4552107
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  • 9. Scoliosis in velo-cardio-facial syndrome.
    Morava E, Lacassie Y, King A, Illes T, Marble M.
    J Pediatr Orthop; 2002 Apr 02; 22(6):780-3. PubMed ID: 12409907
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  • 11. Congenital contractural arachnodactyly (Beals syndrome).
    Viljoen D.
    J Med Genet; 1994 Aug 02; 31(8):640-3. PubMed ID: 7815423
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  • 12. A three generations family with blepharo-naso-facial malformations suggestive of Pashayan syndrome.
    Stoll C, Terzic J, Fischbach M.
    Genet Couns; 1999 Aug 02; 10(4):337-43. PubMed ID: 10631920
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  • 14. [Congenital contractural arachnodactyly (Beals-Hecht syndrome) associated with Brown's syndrome].
    Fehlow P.
    Klin Monbl Augenheilkd; 2005 May 02; 222(5):440-3. PubMed ID: 15912465
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  • 15. Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
    Stheneur C, Collod-Béroud G, Faivre L, Gouya L, Sultan G, Le Parc JM, Moura B, Attias D, Muti C, Sznajder M, Claustres M, Junien C, Baumann C, Cormier-Daire V, Rio M, Lyonnet S, Plauchu H, Lacombe D, Chevallier B, Jondeau G, Boileau C.
    Hum Mutat; 2008 Nov 02; 29(11):E284-95. PubMed ID: 18781618
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  • 17. Kabuki make-up syndrome and hearing impairment.
    Say B, McCutcheon L, Todd C, Hough JV.
    Clin Dysmorphol; 1993 Jan 02; 2(1):68-70. PubMed ID: 8298741
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