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Journal Abstract Search

155 related items for PubMed ID: 14755467

  • 1. Post-natal short stature, short limbs, brachydactyly, facial abnormalities, and delayed bone age: a new syndrome?
    Mégarbané A, Rassi S, Estephan F, Kouba-Hreich E.
    Am J Med Genet A; 2004 Feb 15; 125A(1):57-60. PubMed ID: 14755467
    [Abstract] [Full Text] [Related]

  • 2. Growth deficiency, facial anomalies, and brachydactyly (Frías syndrome): a second family.
    Martínez-Frías ML, Toral JF, López-Grondona F, Mendioroz J, Bermejo E.
    Am J Med Genet A; 2005 Sep 01; 137A(3):288-91. PubMed ID: 16088912
    [Abstract] [Full Text] [Related]

  • 3. New syndrome of macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay.
    Bagatelle R, Cassidy SB.
    Am J Med Genet; 1995 Jan 30; 55(3):367-71. PubMed ID: 7537019
    [Abstract] [Full Text] [Related]

  • 4. Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: previously undescribed MCA/MR syndrome.
    Mégarbané A, Ruchoux MM, Loeys B, Ayoub N, Nuytinck L.
    Am J Med Genet; 2001 Dec 01; 104(3):221-4. PubMed ID: 11754048
    [Abstract] [Full Text] [Related]

  • 5. A newly recognized skeletal dysplasia with rhizomelic limbs and retinitis pigmentosa.
    Mégarbané A, Melick N, Daou L.
    Am J Med Genet A; 2004 Oct 01; 130A(2):176-80. PubMed ID: 15372527
    [Abstract] [Full Text] [Related]

  • 6. A distinct skeletal dysplasia in an infant from consanguineous parents.
    Cantú JM, Manzano C, Pagán P, García-Cruz D, Hernández A.
    Birth Defects Orig Artic Ser; 1977 Oct 01; 13(3B):139-47. PubMed ID: 890089
    [Abstract] [Full Text] [Related]

  • 7. Unusual type of brachydactyly associated with short stature and facial anomalies. A new syndrome?
    Richieri-Costa A, Colletto GM, Otto PA.
    Am J Med Genet; 1985 Aug 01; 21(4):637-42. PubMed ID: 4025394
    [Abstract] [Full Text] [Related]

  • 8. Short stature, brachydactyly, small ears, and a pattern of minor anomalies in brother and sister born to consanguineous parents: a hitherto unreported syndrome?
    Schinzel A, Bernasconi S.
    Am J Med Genet; 1990 Jun 01; 36(2):243-6. PubMed ID: 2368813
    [Abstract] [Full Text] [Related]

  • 9. How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
    Ravel A, Chouery E, Stora S, Jalkh N, Villard L, Temtamy S, Mégarbané A.
    Am J Med Genet A; 2011 Apr 01; 155A(4):880-4. PubMed ID: 21416592
    [Abstract] [Full Text] [Related]

  • 10. Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia.
    Verloes A, Dresse MF, Keutgen H, Asplund C, Smith CI.
    Am J Med Genet; 2001 Jul 01; 101(3):209-12. PubMed ID: 11424135
    [Abstract] [Full Text] [Related]

  • 11. A child with sclerocornea, short limbs, short stature, and distinct facial appearance.
    Thompson EM, Winter RM.
    Am J Med Genet; 1988 Jul 01; 30(3):719-24. PubMed ID: 3055984
    [Abstract] [Full Text] [Related]

  • 12. Congenital glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: report of another family.
    Mégarbané A, Tomey K, Wakim G.
    Am J Med Genet; 1997 Nov 28; 73(1):67-71. PubMed ID: 9375925
    [Abstract] [Full Text] [Related]

  • 13. Unknown syndrome: Noonan-like craniofacial features, digital anomalies, and premature birth.
    Shepherd RC, Goudie DR, Tolmie JL.
    J Med Genet; 1989 Jul 28; 26(7):470-2. PubMed ID: 2746622
    [Abstract] [Full Text] [Related]

  • 14. Severe mental retardation, short stature, facial anomalies, joint laxity, and dislocations in two sisters: previously undescribed MCA/MR syndrome.
    Mégarbané A, Cormier-Daire V.
    Am J Med Genet; 2001 Aug 01; 102(2):153-6. PubMed ID: 11477608
    [Abstract] [Full Text] [Related]

  • 15. Facial erythema associated with short stature, absent distal phalanx, dental and nail anomalies: case report and neuropsychological profile.
    Lanzi G, Termine C, Capsoni C, Zoppello M, Sacchi SA, Danesino C.
    Clin Dysmorphol; 2005 Apr 01; 14(2):105-107. PubMed ID: 15770135
    [Abstract] [Full Text] [Related]

  • 16. A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome.
    David G, Sillence D, Hardwick R, Opitz JM.
    Am J Med Genet A; 2004 Nov 01; 130A(4):389-92. PubMed ID: 15389716
    [Abstract] [Full Text] [Related]

  • 17. An unknown autoinflammatory syndrome associated with short stature and dysmorphic features in a young boy.
    Mégarbané A, Sanders A, Chouery E, Delague V, Medlej-Hashim M, Torbey PH.
    J Rheumatol; 2002 May 01; 29(5):1084-7. PubMed ID: 12022327
    [Abstract] [Full Text] [Related]

  • 18. Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.
    Faivre L, Le Merrer M, Baumann C, Polak M, Chatelain P, Sulmont V, Cousin J, Bost M, Cordier MP, Zackai E, Russell K, Finidori G, Pouliquen JC, Munnich A, Maroteaux P, Cormier-Daire V.
    J Med Genet; 2001 Nov 01; 38(11):745-9. PubMed ID: 11694546
    [Abstract] [Full Text] [Related]

  • 19. Report of a case and further delineation of the SHORT syndrome.
    Toriello HV, Wakefield S, Komar K, Higgins JV, Waterman DF.
    Am J Med Genet; 1985 Oct 01; 22(2):311-4. PubMed ID: 4050863
    [Abstract] [Full Text] [Related]

  • 20. A familial syndrome of cranial, facial, oral and limb anomalies.
    Fitch N, Jequier S, Papageorgiou A.
    Clin Genet; 1976 Oct 01; 10(4):226-31. PubMed ID: 975599
    [Abstract] [Full Text] [Related]

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