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Journal Abstract Search

177 related items for PubMed ID: 8160760

  • 1.
    ; . PubMed ID:
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  • 2. Schinzel-Giedion syndrome: autopsy report and additional clinical manifestations.
    Rodríguez JI, Jiménez-Heffernan JA, Leal J.
    Am J Med Genet; 1994 Dec 01; 53(4):374-7. PubMed ID: 7864048
    [Abstract] [Full Text] [Related]

  • 3. Schinzel-Giedion syndrome: report of two sibs.
    Antich J, Manzanares R, Camarasa F, Krauel X, Vila J, Cusi V.
    Am J Med Genet; 1995 Oct 23; 59(1):96-9. PubMed ID: 8849020
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  • 4. A patient with Schinzel-Giedion syndrome and a review of 20 patients.
    Okamoto N, Takeuchi M, Kitajima H, Hosokawa S.
    Jpn J Hum Genet; 1995 Jun 23; 40(2):189-93. PubMed ID: 7662999
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  • 5. Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis.
    Albano LM, Sakae PP, Mataloun MM, Leone CR, Bertola DR, Kim CA.
    Rev Hosp Clin Fac Med Sao Paulo; 2004 Apr 23; 59(2):89-92. PubMed ID: 15122424
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  • 8. Schinzel-Giedion syndrome and congenital megacalyces.
    Herman TE, Sweetser DA, McAlister WH, Dowton SB.
    Pediatr Radiol; 1993 Apr 23; 23(2):111-2. PubMed ID: 8516031
    [Abstract] [Full Text] [Related]

  • 9. The Schinzel-Giedion syndrome. A case report and review of the literature.
    Pul M, Yilmaz N, Komsuoglu B.
    Clin Pediatr (Phila); 1990 Apr 23; 29(4):235-9. PubMed ID: 2184969
    [Abstract] [Full Text] [Related]

  • 10. [Schinzel-Giedion syndrome].
    Okamoto N.
    Ryoikibetsu Shokogun Shirizu; 2000 Apr 23; (30 Pt 5):35-7. PubMed ID: 11057134
    [No Abstract] [Full Text] [Related]

  • 11. Schinzel-Giedion syndrome.
    Alavi S, Kher A, Bharucha BA.
    Indian Pediatr; 1994 Sep 23; 31(9):1111-4. PubMed ID: 7883373
    [No Abstract] [Full Text] [Related]

  • 12. Schinzel-Giedion syndrome.
    Verloes A, Moës D, Palumbo L, Elmer C, François A, Bricteux G.
    Eur J Pediatr; 1993 May 23; 152(5):421-3. PubMed ID: 8319710
    [Abstract] [Full Text] [Related]

  • 13. A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs.
    Schinzel A, Giedion A.
    Am J Med Genet; 1978 May 23; 1(4):361-75. PubMed ID: 665725
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  • 14. Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.
    Leonardi ML, Pai GS, Wilkes B, Lebel RR.
    Am J Med Genet; 2001 Aug 15; 102(3):237-42. PubMed ID: 11484200
    [Abstract] [Full Text] [Related]

  • 15. Mental retardation, deafness, skeletal abnormalities, and coarse face with full lips: confirmation of the Fountain syndrome.
    Fryns JP, Dereymaeker A, Hoefnagels M, Van den Berghe H.
    Am J Med Genet; 1987 Mar 15; 26(3):551-5. PubMed ID: 3565469
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 37(1):133-5. PubMed ID: 2240030
    [Abstract] [Full Text] [Related]

  • 17. Schinzel-Giedion syndrome. A patient with hypothyroidism and diabetes insipidus.
    Santos H, Cordeiro I, Medeira A, Mendonça E, Antunes NL, Rosa FC.
    Genet Couns; 1994 Sep 15; 5(2):187-9. PubMed ID: 7917131
    [Abstract] [Full Text] [Related]

  • 18. Skeletal manifestations in Fryns syndrome.
    Tsukahara M, Sase M, Tateishi H, Saito T, Kato H, Furukawa S.
    Am J Med Genet; 1995 Jan 16; 55(2):217-20. PubMed ID: 7717421
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  • 19. A new short rib syndrome: report of two cases.
    Beemer FA, Langer LO, Klep-de Pater JM, Hemmes AM, Bylsma JB, Pauli RM, Myers TL, Haws CC.
    Am J Med Genet; 1983 Jan 16; 14(1):115-23. PubMed ID: 6829599
    [Abstract] [Full Text] [Related]

  • 20. Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation.
    Takeuchi A, Okamoto N, Fujinaga S, Morita H, Shimizu J, Akiyama T, Ninomiya S, Takanashi J, Kubo T.
    Eur J Med Genet; 2015 Aug 16; 58(8):369-71. PubMed ID: 26096993
    [Abstract] [Full Text] [Related]

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