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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

112 related items for PubMed ID: 32328382

  • 1. A Novel Presentation of Metaphyseal Chondrodysplasia, Schmid Type with Factor VII Deficiency.
    Ahmed M, Nasir S, Riaz Hashmi SS, Iqbal Z, Saleem A.
    Cureus; 2020 Mar 23; 12(3):e7371. PubMed ID: 32328382
    [Abstract] [Full Text] [Related]

  • 2.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Richmond CM, Savarirayan R.
    ; 1993 Mar 23. PubMed ID: 31633898
    [Abstract] [Full Text] [Related]

  • 3. Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management.
    Al Kaissi A, Ghachem MB, Nabil NM, Kenis V, Melchenko E, Morenko E, Grill F, Ganger R, Kircher SG.
    Orthop Surg; 2018 Aug 23; 10(3):241-246. PubMed ID: 30027601
    [Abstract] [Full Text] [Related]

  • 4. A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1.
    Cammarata-Scalisi F, Matysiak U, Velten T, Callea M, Araque D, Willoughby CE, Galeotti A, Avendaño A.
    Mol Syndromol; 2019 May 23; 10(3):167-170. PubMed ID: 31191206
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  • 6. Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis.
    de França M, de Faria Soares MF, Luce ALP, Perrone E.
    Radiol Case Rep; 2020 Dec 23; 15(12):2554-2556. PubMed ID: 33082897
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  • 9. Hand involvement in Schmid metaphyseal chondrodysplasia.
    Elliott AM, Field FM, Rimoin DL, Lachman RS.
    Am J Med Genet A; 2005 Jan 15; 132A(2):191-3. PubMed ID: 15578582
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  • 10. Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature.
    Lachman RS, Rimoin DL, Spranger J.
    Pediatr Radiol; 1988 Jan 15; 18(2):93-102. PubMed ID: 3281118
    [Abstract] [Full Text] [Related]

  • 11. Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type.
    Savarirayan R, Cormier-Daire V, Lachman RS, Rimoin DL.
    Pediatr Radiol; 2000 Jul 15; 30(7):460-3. PubMed ID: 10929364
    [Abstract] [Full Text] [Related]

  • 12. [Metaphyseal chondrodysplasia as differential diagnosis to rickets].
    Dahl M, Birkebaek NH.
    Ugeskr Laeger; 1996 Mar 18; 158(12):1683-4. PubMed ID: 8644413
    [Abstract] [Full Text] [Related]

  • 13. Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia.
    Kong L, Shi L, Wang W, Zuo R, Wang M, Kang Q.
    BMC Med Genet; 2019 Dec 19; 20(1):200. PubMed ID: 31856751
    [Abstract] [Full Text] [Related]

  • 14. Dideoxyfingerprinting (ddF) analysis of the type X collagen gene (COL10A1) and identification of a novel mutation (S671P) in a kindred with Schmid metaphyseal chondrodysplasia.
    Stratakis CA, Orban Z, Burns AL, Vottero A, Mitsiades CS, Marx SJ, Abbassi V, Chrousos GP.
    Biochem Mol Med; 1996 Dec 19; 59(2):112-7. PubMed ID: 8986632
    [Abstract] [Full Text] [Related]

  • 15. A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1.
    Higuchi S, Takagi M, Shimomura S, Nishimura G, Hasegawa Y.
    Clin Pediatr Endocrinol; 2016 Jul 19; 25(3):107-10. PubMed ID: 27507912
    [No Abstract] [Full Text] [Related]

  • 16. Rickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving case.
    Diaz Escagedo P, Fiscaletti M, Olivier P, Hudon C, Miranda V, Miron MC, Campeau PM, Alos N.
    BMC Pediatr; 2021 May 22; 21(1):248. PubMed ID: 34022834
    [Abstract] [Full Text] [Related]

  • 17. A novel type X collagen gene mutation (G595R) associated with Schmid-type metaphyseal chondrodysplasia.
    Matsui Y, Yasui N, Kawabata H, Ozono K, Nakata K, Mizushima T, Tsumaki N, Kataoka E, Fujita Y, Ochi T.
    J Hum Genet; 2000 May 22; 45(2):105-8. PubMed ID: 10721676
    [Abstract] [Full Text] [Related]

  • 18. Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.
    Park H, Hong S, Cho SI, Cho TJ, Choi IH, Jin DK, Sohn YB, Park SW, Cho HH, Cheon JE, Kim SY, Kim JY, Park SS, Seong MW.
    Eur J Med Genet; 2015 Mar 22; 58(3):175-9. PubMed ID: 25542771
    [Abstract] [Full Text] [Related]

  • 19. Association between leg bowing and serum alkaline phosphatase level regardless of the presence of a radiographic growth plate abnormality in pediatric patients with genu varum.
    Sakamoto Y, Ishijima M, Kinoshita M, Liu L, Suzuki M, Kim SG, Kamata K, Tokita A, Kaneko H, Shimizu T, Kaneko K, Nozawa M.
    J Bone Miner Metab; 2018 Jul 22; 36(4):447-453. PubMed ID: 28664247
    [Abstract] [Full Text] [Related]

  • 20. A novel mutation leading to elongation of the deduced α1(X) chain results in Metaphyseal Chondrodysplasia type Schmid.
    Zhu Y, Li L, Zhou L, Mei H, Jin K, Liu K, Xu W, Tang J, Yang Y, Zhao R, He X.
    Clin Chim Acta; 2011 Jun 11; 412(13-14):1266-9. PubMed ID: 21447328
    [Abstract] [Full Text] [Related]

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