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Journal Abstract Search

87 related items for PubMed ID: 7258228

  • 1. Further delineation of the C (trigonocephaly) syndrome.
    Antley RM, Hwang DS, Theopold W, Gorlin RJ, Steeper T, Pitt D, Danks DM, McPherson E, Bartels H, Wiedemann HR, Opitz JM.
    Am J Med Genet; 1981; 9(2):147-63. PubMed ID: 7258228
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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]

  • 4. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
    Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC.
    Pediatrics; 2008 Feb 15; 121(2):404-10. PubMed ID: 18245432
    [Abstract] [Full Text] [Related]

  • 5. Multiple congenital anomalies/mental retardation syndrome with multiple circumferential skin creases: a new syndrome?
    Tinsa F, Aissa K, Meddeb M, Bousnina D, Boussetta K, Bousnina S.
    J Child Neurol; 2009 Feb 15; 24(2):224-7. PubMed ID: 19182162
    [Abstract] [Full Text] [Related]

  • 6. Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.
    Ramer JC, Lin AE, Dobyns WB, Winter R, Aymé S, Pallotta R, Ladda RL.
    Am J Med Genet; 1995 Jul 03; 57(3):403-9. PubMed ID: 7545868
    [Abstract] [Full Text] [Related]

  • 7. New syndrome?: MCA/MR syndrome with multiple circumferential skin creases.
    Elliott AM, Ludman M, Teebi AS.
    Am J Med Genet; 1996 Mar 01; 62(1):23-5. PubMed ID: 8779319
    [Abstract] [Full Text] [Related]

  • 8. Clinical and behavioral characteristics in FG syndrome.
    Graham JM, Superneau D, Rogers RC, Corning K, Schwartz CE, Dykens EM.
    Am J Med Genet; 1999 Aug 27; 85(5):470-5. PubMed ID: 10405444
    [Abstract] [Full Text] [Related]

  • 9. "C" trigonocephaly syndrome with diaphragmnatic hernia.
    Addor MC, Stefanutti D, Farron F, Meinecke P, Lacombe D, Sarlangue J, Prescia G, Schorderet DF.
    Genet Couns; 1995 Aug 27; 6(2):113-20. PubMed ID: 7546453
    [Abstract] [Full Text] [Related]

  • 10. Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: specific entity or variant of a described condition?
    Göhlich-Ratmann G, Lackner A, Schaper J, Voit T, Gillessen-Kaesbach G.
    Am J Med Genet; 2000 Nov 27; 95(3):241-6. PubMed ID: 11102931
    [Abstract] [Full Text] [Related]

  • 11. Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis.
    Terespolsky D, Farrell SA, Siegel-Bartelt J, Weksberg R.
    Am J Med Genet; 1995 Nov 20; 59(3):329-33. PubMed ID: 8599356
    [Abstract] [Full Text] [Related]

  • 12. Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies.
    Hamel BC, Mariman EC, van Beersum SE, Schoonbrood-Lenssen AM, Ropers HH.
    Am J Med Genet; 1994 Jul 15; 51(4):591-7. PubMed ID: 7943045
    [Abstract] [Full Text] [Related]

  • 13. C syndrome with apparently normal development.
    Stratton RF, Sykes NJ, Hassler TW.
    Am J Med Genet; 1990 Dec 15; 37(4):460-2. PubMed ID: 2260587
    [Abstract] [Full Text] [Related]

  • 14. [Joubert's syndrome: report of 12 cases].
    Barreirinho MS, Teixeira J, Moreira NC, Bastos S, Gonçalvez S, Barbot MC.
    Rev Neurol; 1990 Dec 15; 32(9):812-7. PubMed ID: 11424029
    [Abstract] [Full Text] [Related]

  • 15. New syndrome or severe expression of Gordon syndrome? A case report.
    Courtens W, Perlmutter N, Dan B, Vamos E.
    Clin Dysmorphol; 1997 Jan 15; 6(1):39-44. PubMed ID: 9018417
    [Abstract] [Full Text] [Related]

  • 16. Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth.
    Clayton-Smith J, Krajewska-Walasek M, Fryer A, Donnai D.
    Clin Dysmorphol; 1994 Apr 15; 3(2):115-20. PubMed ID: 8055130
    [Abstract] [Full Text] [Related]

  • 17. A new syndrome: multiple congenital abnormalities and mental retardation in two brothers.
    Dundar M, Ozdemir SY, Fryns JP.
    Genet Couns; 2012 Apr 15; 23(1):13-8. PubMed ID: 22611637
    [Abstract] [Full Text] [Related]

  • 18. Further delineation of the epidermal nevus syndrome: two cases with new findings and literature review.
    Grebe TA, Rimsza ME, Richter SF, Hansen RC, Hoyme HE.
    Am J Med Genet; 1993 Aug 01; 47(1):24-30. PubMed ID: 8368247
    [Abstract] [Full Text] [Related]

  • 19. Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome.
    Kurosawa K, Kawame H, Okamoto N, Ochiai Y, Akatsuka A, Kobayashi M, Shimohira M, Mizuno S, Wada K, Fukushima Y, Kawawaki H, Yamamoto T, Masuno M, Imaizumi K, Kuroki Y.
    Brain Dev; 2005 Aug 01; 27(5):378-82. PubMed ID: 16023556
    [Abstract] [Full Text] [Related]

  • 20. Association of Duane anomaly with mental retardation, cardiac and urinary tract abnormalities: a new autosomal recessive condition?
    Stoll C, Alembik Y, Dott B.
    Ann Genet; 1994 Aug 01; 37(4):207-9. PubMed ID: 7710257
    [Abstract] [Full Text] [Related]

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