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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

264 related items for PubMed ID: 12210345

  • 1. Omodysplasia: an affected mother and son.
    Venditti CP, Farmer J, Russell KL, Friedrich CA, Alter C, Canning D, Whitaker L, Mennuti MT, Driscoll DA, Zackai EH.
    Am J Med Genet; 2002 Aug 01; 111(2):169-77. PubMed ID: 12210345
    [Abstract] [Full Text] [Related]

  • 2. Omodysplasia.
    Maroteaux P, Sauvegrain J, Chrispin A, Farriaux JP.
    Am J Med Genet; 1989 Mar 01; 32(3):371-5. PubMed ID: 2729357
    [Abstract] [Full Text] [Related]

  • 3. Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes.
    Nagasaki K, Nishimura G, Kikuchi T, Nyuzuki H, Sasaki S, Ogawa Y, Saitoh A.
    Am J Med Genet A; 2018 Mar 01; 176(3):739-742. PubMed ID: 29383834
    [Abstract] [Full Text] [Related]

  • 4. Autosomal recessive omodysplasia.
    Stoll C, Pennerath A, Poirat P.
    Ann Genet; 1995 Mar 01; 38(2):97-101. PubMed ID: 7486832
    [Abstract] [Full Text] [Related]

  • 5. Atelosteogenesis.
    Maroteaux P, Spranger J, Stanescu V, Le Marec B, Pfeiffer RA, Beighton P, Mattei JF.
    Am J Med Genet; 1982 Sep 01; 13(1):15-25. PubMed ID: 7137218
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  • 6. Recessive omodysplasia: five new cases and review of the literature.
    Elçioglu NH, Gustavson KH, Wilkie AO, Yüksel-Apak M, Spranger JW.
    Pediatr Radiol; 2004 Jan 01; 34(1):75-82. PubMed ID: 14566439
    [Abstract] [Full Text] [Related]

  • 7. Pathological case of the month. Campomelic dysplasia.
    Iravani S, Debich-Spicer D, Gilbert-Barness E.
    Arch Pediatr Adolesc Med; 2000 Jul 01; 154(7):747-8. PubMed ID: 10891031
    [No Abstract] [Full Text] [Related]

  • 8. Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia): a neonatally lethal short-limbed skeletal displasia.
    Sillence DO, Lachman RS, Jenkins T, Riccardi VM, Rimoin DL.
    Am J Med Genet; 1982 Sep 01; 13(1):7-14. PubMed ID: 6753583
    [Abstract] [Full Text] [Related]

  • 9. Fibrochondrogenesis in a 17-week fetus: a case expanding the phenotype.
    Hunt NC, Vujanić GM.
    Am J Med Genet; 1998 Jan 23; 75(3):326-9. PubMed ID: 9475607
    [Abstract] [Full Text] [Related]

  • 10. Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder.
    Chitayat D, Gruber H, Mullen BJ, Pauzner D, Costa T, Lachman R, Rimoin DL.
    Am J Med Genet; 1993 Aug 15; 47(2):272-7. PubMed ID: 8213919
    [Abstract] [Full Text] [Related]

  • 11. Long-term observation of a patient with dominant omodysplasia.
    Gordon BL, Champaigne NL, Rogers RC, Frias JL, Leroy JG.
    Am J Med Genet A; 2014 May 15; 164A(5):1234-8. PubMed ID: 24458798
    [Abstract] [Full Text] [Related]

  • 12. Congenital neuroblastoma in a neonate with hypoparathyroidism-retardation-dysmorphism syndrome.
    Golan-Tripto I, Ling E, Hershkovitz E, Fruchtman Y, Hazan G.
    Clin Dysmorphol; 2020 Jan 15; 29(1):46-48. PubMed ID: 31205051
    [No Abstract] [Full Text] [Related]

  • 13. Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations.
    Faivre L, Cormier-Daire V, Eliott AM, Field F, Munnich A, Maroteaux P, Le Merrer M, Lachman R.
    Am J Med Genet A; 2004 Jan 01; 124A(1):48-53. PubMed ID: 14679586
    [Abstract] [Full Text] [Related]

  • 14. Autosomal recessive omodysplasia: report of three additional cases.
    Masel JP, Kozlowski K, Kiss P.
    Pediatr Radiol; 1998 Aug 01; 28(8):608-11. PubMed ID: 9716634
    [Abstract] [Full Text] [Related]

  • 15. A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.
    Parıltay E, Hazan F, Ataman E, Demir K, Etlik Ö, Özbek E, Özkan B.
    J Pediatr Endocrinol Metab; 2016 Sep 01; 29(9):1111-4. PubMed ID: 27544718
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