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Journal Abstract Search

99 related items for PubMed ID: 10719681

  • 1. [Retinitis pigmentosa, terminal renal insufficiency and Caroli syndrome: new associations with Opitz trigonocephaly syndrome].
    Weber P, Kuwertz-Bröking E, Majewski F, Zimmer KP, Bulla M.
    Klin Padiatr; 2000; 212(1):31-4. PubMed ID: 10719681
    [Abstract] [Full Text] [Related]

  • 2. [Opitz' trigonocephaly syndrome].
    Prager B, Hinkel GK, Lorenz P.
    Kinderarztl Prax; 1991 Nov; 59(11):346-8. PubMed ID: 1758140
    [Abstract] [Full Text] [Related]

  • 3. Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature.
    Weiss G, Confino Y, Shemer A, Trau H.
    J Eur Acad Dermatol Venereol; 2004 May; 18(3):324-7. PubMed ID: 15096145
    [Abstract] [Full Text] [Related]

  • 4. [Acute pancreatitis in Caroli's syndrome].
    García Valriberas R, Díaz Blasco J, Moreno Monteagudo JA, Correa JA, García Buey ML, Pajares García JM.
    Rev Esp Enferm Dig; 1997 Feb; 89(2):133-6. PubMed ID: 9115821
    [Abstract] [Full Text] [Related]

  • 5. A new case of Balci's syndrome (corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spasticity associated with congenital heart disease).
    Balci S, Demirçeken FG, Ocal B, Zorlu P, Teziç T.
    Turk J Pediatr; 2001 Feb; 43(4):366-8. PubMed ID: 11765173
    [Abstract] [Full Text] [Related]

  • 6. Opitz trigonocephaly syndrome.
    Haaf T, Hofmann R, Schmid M.
    Am J Med Genet; 1991 Sep 15; 40(4):444-6. PubMed ID: 1746609
    [Abstract] [Full Text] [Related]

  • 7. Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly.
    Schaap C, Schrander-Stumpel CT, Fryns JP.
    Genet Couns; 1992 Sep 15; 3(4):209-15. PubMed ID: 1472356
    [Abstract] [Full Text] [Related]

  • 8. Nephronophthisis: a variant.
    Hafeez F, Rasool F, Ahmad TM.
    J Coll Physicians Surg Pak; 2005 Jun 15; 15(6):368-70. PubMed ID: 15924846
    [Abstract] [Full Text] [Related]

  • 9. Váradi syndrome (OFD VI) or Opitz trigonocephaly syndrome: overlapping manifestations in two cousins.
    Cleper R, Kauschansky A, Varsano I, Frydman M.
    Am J Med Genet; 1993 Sep 15; 47(4):451-5. PubMed ID: 8256802
    [Abstract] [Full Text] [Related]

  • 10. Retinitis pigmentosa in a young man with Noonan syndrome: further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity?
    Lorenzetti ME, Fryns JP.
    Am J Med Genet; 1996 Oct 16; 65(2):97-9. PubMed ID: 8911596
    [Abstract] [Full Text] [Related]

  • 11. [Atypical retinitis pigmentosa in Laurence-Moon-Biedl-Bardet syndrome. Report of a case of chronic renal insufficiency under periodic hemodialysis treatment].
    Bianco G, Carlesimo SC, Mazzarrino R, Palestini M.
    Clin Ter; 1993 Mar 16; 142(3):219-23. PubMed ID: 8482061
    [Abstract] [Full Text] [Related]

  • 12. Rud syndrome: congenital ichthyosis, hypogonadism, mental retardation, retinitis pigmentosa and hypertrophic polyneuropathy.
    Larbrisseau A, Carpenter S.
    Neuropediatrics; 1982 May 16; 13(2):95-8. PubMed ID: 6182503
    [Abstract] [Full Text] [Related]

  • 13. [On a case of alopecia areata maligna in a patient with retinitis pigmentosa (tapeto-retinal degeneration) and other multiple congenital anomalies].
    Salamon T, Stojaković M.
    Z Haut Geschlechtskr; 1968 Apr 01; 43(7):267-72. PubMed ID: 5664727
    [No Abstract] [Full Text] [Related]

  • 14. Smith-Lemli-Opitz syndrome with cardiovascular abnormality.
    Robinson CD, Perry LW, Barlee A, Mella GW.
    Pediatrics; 1971 May 01; 47(5):844-7. PubMed ID: 5573870
    [No Abstract] [Full Text] [Related]

  • 15. [Anesthetic management of a patient with Smith-Lemli-Opitz syndrome].
    Komatsu H, Tosaki Y, Ogli K, Yokono S.
    Masui; 1987 Sep 01; 36(9):1450-3. PubMed ID: 3694783
    [No Abstract] [Full Text] [Related]

  • 16. Niikawa-Kuroki syndrome.
    Roccella M.
    Minerva Pediatr; 1999 Sep 01; 51(7-8):271-8. PubMed ID: 10634060
    [Abstract] [Full Text] [Related]

  • 17. A new clinical presentation associated with pontine clefting, hyperpigmentation and short stature in addition to craniofacial, cardiac and developmental anomalies.
    Cogulu O, Durmaz B, Wollnik B, Durmaz A, Darcan S, Ozkinay F.
    Genet Couns; 2012 Sep 01; 23(2):281-7. PubMed ID: 22876588
    [Abstract] [Full Text] [Related]

  • 18. More on the Noonan-CFC controversy.
    Neri G, Zollino M.
    Am J Med Genet; 1996 Oct 16; 65(2):100. PubMed ID: 8911597
    [No Abstract] [Full Text] [Related]

  • 19. Mortality and pathological findings in C (Opitz trigonocephaly) syndrome.
    Opitz JM, Putnam AR, Comstock JM, Chin S, Byrne JL, Kennedy A, Frikke MJ, Bernard C, Albrecht S, Der Kaloustian V, Szakacs JG.
    Fetal Pediatr Pathol; 2006 Oct 16; 25(4):211-31. PubMed ID: 17162528
    [Abstract] [Full Text] [Related]

  • 20. [Opitz-trigonocephaly syndrome--a characteristic dysmorphia-retardation syndrome of unclear origin].
    Choudhury AR, Renneberg A, Rackowitz A, Stephani U.
    Klin Padiatr; 1992 Oct 16; 204(3):171-3. PubMed ID: 1614184
    [Abstract] [Full Text] [Related]

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