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Journal Abstract Search

133 related items for PubMed ID: 12833413

  • 21. Sedaghatian spondylometaphyseal dysplasia in two siblings.
    Peshimam N, Farah H, Caswell R, Ellard S, Jan W, Calder AD, Cobben J, Kariholu U, Leitch HG.
    Eur J Med Genet; 2022 Aug; 65(8):104541. PubMed ID: 35718083
    [Abstract] [Full Text] [Related]

  • 22. Indonesian type of metaphyseal dysplasia.
    Kozlowski K, Pratomo PS, Burhan A, Firman K.
    Can Assoc Radiol J; 1993 Oct; 44(5):384-9. PubMed ID: 8402240
    [Abstract] [Full Text] [Related]

  • 23. Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.
    Temtamy SA, Männikkö M, Abdel-Salam GM, Hassan NA, Ala-Kokko L, Afifi HH.
    Am J Med Genet A; 2006 Jun 01; 140(11):1189-95. PubMed ID: 16637051
    [Abstract] [Full Text] [Related]

  • 24. Axial spondylometaphyseal dysplasia: additional reports.
    Suzuki S, Kim OH, Makita Y, Saito T, Lim GY, Cho TJ, Al-Swaid A, Alrasheed S, Sadoon E, Miyazaki O, Nishina S, Superti-Furga A, Unger S, Fujieda K, Ikegawa S, Nishimura G.
    Am J Med Genet A; 2011 Oct 01; 155A(10):2521-8. PubMed ID: 21910225
    [Abstract] [Full Text] [Related]

  • 25. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
    Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH.
    Am J Hum Genet; 2009 Mar 01; 84(3):307-15. PubMed ID: 19232556
    [Abstract] [Full Text] [Related]

  • 26. Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
    Nishimura G, Dai J, Lausch E, Unger S, Megarbané A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A.
    Am J Med Genet A; 2010 Jun 01; 152A(6):1443-9. PubMed ID: 20503319
    [Abstract] [Full Text] [Related]

  • 27. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): clinical and radiological findings in a Guatemalan patient.
    Bradburn JM, Hall BD.
    Am J Med Genet; 1995 Nov 06; 59(2):234-7. PubMed ID: 8588592
    [Abstract] [Full Text] [Related]

  • 28. Metaphyseal dysplasia, Spahr type; missense MMP13 mutations in two Iraqi siblings.
    Tadros S, Scott RH, Calder AD, Hurst JA.
    Clin Dysmorphol; 2017 Jan 06; 26(1):13-17. PubMed ID: 27576021
    [Abstract] [Full Text] [Related]

  • 29. Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy.
    Isidor B, Baron S, Khau van Kien P, Bertrand AM, David A, Le Merrer M.
    Am J Med Genet A; 2010 Jun 06; 152A(6):1550-4. PubMed ID: 20503334
    [Abstract] [Full Text] [Related]

  • 30. Metaphyseal dysplasia, Spahr type: a mimicker of rickets.
    Balasubramaniyan M, Kaur A, Sinha A, Gopinathan NR.
    BMJ Case Rep; 2019 Aug 13; 12(8):. PubMed ID: 31413057
    [Abstract] [Full Text] [Related]

  • 31. Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defects.
    Nishimura G, Kizu R, Kijima Y, Sakai K, Kawaguchi Y, Kimura T, Matsushita I, Shirahama S, Ikeda T, Ikegawa S, Hasegawa T.
    Am J Med Genet A; 2003 Aug 01; 120A(4):498-502. PubMed ID: 12884428
    [Abstract] [Full Text] [Related]

  • 32. Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2.
    Mollaoğlu E, Uludağ Alkaya D, Yıldız CA, Kasap B, Tüysüz B.
    Clin Genet; 2023 May 01; 103(5):574-579. PubMed ID: 36504352
    [Abstract] [Full Text] [Related]

  • 33. Further characterization of ARSK-related mucopolysaccharidosis type 10.
    Uludağ Alkaya D, Taner HE, Yıldırım T, Akpınar E, Tüysüz B.
    Am J Med Genet A; 2024 Aug 01; 194(8):e63635. PubMed ID: 38634625
    [Abstract] [Full Text] [Related]

  • 34. Unusual bone dysplasia featuring severe platyspondyly and vertebral "coronal cleft" in infancy, and changes of metaphyseal chondrodysplasia in childhood.
    Currarino G.
    Pediatr Radiol; 1986 Aug 01; 16(5):433-6. PubMed ID: 3748653
    [Abstract] [Full Text] [Related]

  • 35. Spondyloenchondrodysplasia.
    Menger H, Kruse K, Spranger J.
    J Med Genet; 1989 Feb 01; 26(2):93-9. PubMed ID: 2918547
    [Abstract] [Full Text] [Related]

  • 36. Does it always have to be Perthes' disease? What is epiphyseal dysplasia?
    Hesse B, Kohler G.
    Clin Orthop Relat Res; 2003 Sep 01; (414):219-27. PubMed ID: 12966296
    [Abstract] [Full Text] [Related]

  • 37. New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi origin.
    Shohat M, Lachman R, Carmi R, Bar Ziv J, Rimoin D.
    Am J Med Genet; 1993 Jun 01; 46(4):358-62. PubMed ID: 8357004
    [Abstract] [Full Text] [Related]

  • 38. Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report.
    Zhou T, Wang Y, Zhou H, Liao Z, Gao B, Su D, Zheng S, Xu C, Su P.
    BMC Med Genet; 2018 May 03; 19(1):70. PubMed ID: 29724173
    [Abstract] [Full Text] [Related]

  • 39. Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia.
    Takagi M, Shimizu M, Suzuki E, Shinohara H, Narumi S, Hasegawa T, Nishimura G, Hasegawa Y.
    Am J Med Genet A; 2016 Mar 03; 170(3):795-8. PubMed ID: 26586363
    [No Abstract] [Full Text] [Related]

  • 40. [Metaphyseal chondrodysplasia].
    Dahl M, Birkebaek NH, Rungby J, Herlin T.
    Ugeskr Laeger; 1999 Jun 28; 161(26):3996-4000. PubMed ID: 10402935
    [Abstract] [Full Text] [Related]

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