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Journal Abstract Search

142 related items for PubMed ID: 8004795

  • 21.
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  • 23. Picture of the month. Roberts-SC phocomelia syndrome.
    Lopez-Allen G, Hutcheon RG, Shaham M, Tunnessen WW.
    Arch Pediatr Adolesc Med; 1996 Jun; 150(6):645-6. PubMed ID: 8646318
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  • 26. 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 Jun; 4(3):231-8. PubMed ID: 517578
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  • 27. The SC phocomelia and the Roberts syndrome: nosologic aspects.
    Herrmann J, Opitz JM.
    Eur J Pediatr; 1977 Jun 01; 125(2):117-34. PubMed ID: 872834
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  • 30. Roberts SC phocomelia with isolated cleft palate, thrombocytopenia, and eosinophilia.
    Camlibel T, Mocan H, Kutlu N, Kutlu N.
    Genet Couns; 1999 Jun 01; 10(2):157-61. PubMed ID: 10422009
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  • 31. Limb reduction defects and renal dysplasia: confirmation of a new, apparently lethal, autosomal recessive MCA syndrome.
    Schrander-Stumpel C, de Die-Smulders C, Fryns JP, da Costa J, Bouckaert P.
    Am J Med Genet; 1990 Sep 01; 37(1):133-5. PubMed ID: 2240030
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  • 32. The Roberts syndrome: a case report of an infant with valvular aortic stenosis and mutation in ESCO2.
    Dogan M, Firinci F, Balci YI, Zeybek S, Ozgürler F, Erdogan I, Varan B, Semerci CN.
    J Pak Med Assoc; 2014 Apr 01; 64(4):457-60. PubMed ID: 24864645
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  • 33. [Newborn with phocomelia and thrombocytopenia. Case report].
    Maas C, Arand J, Orlikowsky T, Goelz R.
    Z Geburtshilfe Neonatol; 2002 Apr 01; 206(4):161-3. PubMed ID: 12198594
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  • 34. A familial tetraphocomelia syndrome involving limb deformities, cleft lip, cleft palate, and associated anomalies--a new syndrome.
    Kucheria K, Bhargava SK, Bamezai R, Bhutani P.
    Hum Genet; 1976 Aug 30; 33(3):323-6. PubMed ID: 964992
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  • 35. [Roberts-SC phocomelia syndrome].
    Kawame H.
    Ryoikibetsu Shokogun Shirizu; 2000 Aug 30; (30 Pt 5):234-5. PubMed ID: 11057210
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  • 36. A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs.
    Concolino D, Sperlì D, Cinti R, Strisciuglio P, Andria G.
    Clin Genet; 1996 May 30; 49(5):274-6. PubMed ID: 8832138
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  • 37. 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 May 30; 30(4):243-5. PubMed ID: 3501269
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  • 38. Hypersensitivity to mitomycin C cell-killing in Roberts syndrome fibroblasts with, but not without, the heterochromatin abnormality.
    Burns MA, Tomkins DJ.
    Mutat Res; 1989 Oct 30; 216(5):243-9. PubMed ID: 2507910
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  • 39. Pseudo-Roberts Syndrome: An Entity or Not?
    Salari B, Dehner LP.
    Fetal Pediatr Pathol; 2022 Jun 30; 41(3):396-402. PubMed ID: 33026893
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  • 40. Roberts syndrome: a review of 100 cases and a new rating system for severity.
    Van Den Berg DJ, Francke U.
    Am J Med Genet; 1993 Nov 15; 47(7):1104-23. PubMed ID: 8291532
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