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Journal Abstract Search

199 related items for PubMed ID: 495649

  • 1. Cytogenetic findings in Roberts-SC phocomelia syndrome(s).
    Tomkins D, Hunter A, Roberts M.
    Am J Med Genet; 1979; 4(1):17-26. PubMed ID: 495649
    [Abstract] [Full Text] [Related]

  • 2. The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies.
    Gerkes EH, van der Kevie-Kersemaekers AM, Yakin M, Smeets DF, van Ravenswaaij-Arts CM.
    Eur J Med Genet; 2010; 53(1):40-4. PubMed ID: 19878742
    [Abstract] [Full Text] [Related]

  • 3. Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings.
    Temtamy SA, Ismail S, Helmy NA.
    Genet Couns; 2006; 17(1):1-13. PubMed ID: 16719272
    [Abstract] [Full Text] [Related]

  • 4. SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma.
    Parry DM, Mulvihill JJ, Tsai SE, Kaiser-Kupfer MI, Cowan JM.
    Am J Med Genet; 1986 Aug; 24(4):653-72. PubMed ID: 3740099
    [Abstract] [Full Text] [Related]

  • 5. Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with characteristic manifestations.
    Robins DB, Ladda RL, Thieme GA, Boal DK, Emanuel BS, Zackai EH.
    Am J Med Genet; 1989 Mar; 32(3):390-4. PubMed ID: 2658590
    [Abstract] [Full Text] [Related]

  • 6. [Roberts-SC phocomelia syndrome].
    Musfeld DA, Bühler EM, Heinzl S.
    Gynakol Geburtshilfliche Rundsch; 2001 Mar; 41(1):3-7. PubMed ID: 11423730
    [Abstract] [Full Text] [Related]

  • 7. Roberts-SC phocomelia syndrome with exencephaly.
    Verloes A, Herens C, Van Maldergem L, Retz MC, Dodinval P.
    Ann Genet; 1989 Mar; 32(3):169-70. PubMed ID: 2817778
    [Abstract] [Full Text] [Related]

  • 8. A sibship with Roberts/SC phocomelia syndrome.
    Holmes-Siedle M, Seres-Santamaria A, Crocker M, Hall JG, Crouchman M.
    Am J Med Genet; 1990 Sep; 37(1):18-22. PubMed ID: 2240038
    [Abstract] [Full Text] [Related]

  • 9. The SC phocomelia syndrome: report of two cases with cytogenetic abnormality.
    Qazi QH, Kassner EG, Masakawa A, Madahar C, Choi SJ.
    Am J Med Genet; 1979 Sep; 4(3):231-8. PubMed ID: 517578
    [Abstract] [Full Text] [Related]

  • 10. The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature.
    Goh ES, Li C, Horsburgh S, Kasai Y, Kolomietz E, Morel CF.
    Am J Med Genet A; 2010 Feb; 152A(2):472-8. PubMed ID: 20101700
    [Abstract] [Full Text] [Related]

  • 11. Roberts SC phocomelia with isolated cleft palate, thrombocytopenia, and eosinophilia.
    Camlibel T, Mocan H, Kutlu N, Kutlu N.
    Genet Couns; 1999 Feb; 10(2):157-61. PubMed ID: 10422009
    [Abstract] [Full Text] [Related]

  • 12. The Roberts tetraphocomelia syndrome: identical limb defects in two siblings.
    Fryns JP, Kleczkowska A, Moerman P, van den Berghe K, van den Berghe H.
    Ann Genet; 1987 Feb; 30(4):243-5. PubMed ID: 3501269
    [Abstract] [Full Text] [Related]

  • 13. [Roberts' syndrome. Review of the literature and presentation of 2 clinical cases].
    Colombo B, Bottelli A, Maserati E.
    Pediatr Med Chir; 1986 Feb; 8(3):411-3. PubMed ID: 3786205
    [Abstract] [Full Text] [Related]

  • 14. Prenatal diagnosis of Roberts syndrome: two new cases.
    Benzacken B, Savary JB, Manouvrier S, Bucourt M, Gonzales J.
    Prenat Diagn; 1996 Feb; 16(2):125-30. PubMed ID: 8650122
    [Abstract] [Full Text] [Related]

  • 15. [Roberts-SC phocomelia syndrome: cytogenetic findings and clinical variability in three brothers].
    Antiñolo Gil G, Borrego López S, Cañadas García de León M, Sánchez García J.
    An Esp Pediatr; 1988 Sep; 29(3):239-43. PubMed ID: 3057982
    [Abstract] [Full Text] [Related]

  • 16. Roberts-SC phocomelia syndrome: a case with additional anomalies.
    Satar M, Atici A, Bişak U, Tunali N.
    Clin Genet; 1994 Feb; 45(2):107-8. PubMed ID: 8004795
    [Abstract] [Full Text] [Related]

  • 17. Tetra-phocomelia with multiple malformations: X-linked amelia, or Roberts syndrome, or DK-phocomelia syndrome?
    Rodríguez JI, Palacios J, Urioste M, Rodríguez-Peralto JL.
    Am J Med Genet; 1992 Jun 01; 43(3):630-2. PubMed ID: 1605264
    [No Abstract] [Full Text] [Related]

  • 18. Roberts syndrome with normal cell division.
    Keppen LD, Gollin SM, Seibert JJ, Sisken JE.
    Am J Med Genet; 1991 Jan 01; 38(1):21-4. PubMed ID: 2012128
    [Abstract] [Full Text] [Related]

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  • 20. [Roberts-SC phocomelia syndrome].
    Kawame H.
    Ryoikibetsu Shokogun Shirizu; 2000 Jan 01; (30 Pt 5):234-5. PubMed ID: 11057210
    [No Abstract] [Full Text] [Related]

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