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    Results: 1 to 20 of 37

    1.

    Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay.

    Cui YX, Xia XY, Bu Y, Zhou GH, Yang B, Lu HY, Shi YC, Pan LJ, Huang YF, Li XJ.

    Genet Test. 2008 Dec;12(4):533-6.PMID: 19072565 [PubMed - indexed for MEDLINE]Related articles

    2.

    Visceral manifestations of hypochondrogenesis.

    Wainwright H, Beighton P.

    Virchows Arch. 2008 Aug;453(2):203-7. Epub 2008 Jul 19.PMID: 18642028 [PubMed - indexed for MEDLINE]Related articles

    3.

    Specific ultrasonographic features of perinatal lethal hypophosphatasia.

    Zankl A, Mornet E, Wong S.

    Am J Med Genet A. 2008 May 1;146A(9):1200-4.PMID: 18386808 [PubMed - indexed for MEDLINE]Related articles

    4.

    Hypochondrogenesis.

    Castori M, Brancati F, Scanderbeg AC, Dallapiccola B.

    Pediatr Radiol. 2006 May;36(5):460-1. Epub 2006 Jan 24. No abstract available. PMID: 16432703 [PubMed - indexed for MEDLINE]Related articles

    5.

    Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias.

    Krakow D, Williams J 3rd, Poehl M, Rimoin DL, Platt LD.

    Ultrasound Obstet Gynecol. 2003 May;21(5):467-72.PMID: 12768559 [PubMed - indexed for MEDLINE]Related articles

    6.

    Three-dimensional ultrasonographic presentation of micrognathia.

    Lee W, McNie B, Chaiworapongsa T, Conoscenti G, Kalache KD, Vettraino IM, Romero R, Comstock CH.

    J Ultrasound Med. 2002 Jul;21(7):775-81.PMID: 12099566 [PubMed - indexed for MEDLINE]Related articles

    7.

    Prenatal diagnosis of hypochondrogenesis using fetal MRI: a case report.

    Suzumura H, Kohno T, Nishimura G, Watanabe H, Arisaka O.

    Pediatr Radiol. 2002 May;32(5):373-5. Epub 2002 Mar 9.PMID: 11956729 [PubMed - indexed for MEDLINE]Related articles

    8.

    Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.

    Körkkö J, Cohn DH, Ala-Kokko L, Krakow D, Prockop DJ.

    Am J Med Genet. 2000 May 15;92(2):95-100.PMID: 10797431 [PubMed - indexed for MEDLINE]Related articles

    9.

    Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.

    Mortier GR, Weis M, Nuytinck L, King LM, Wilkin DJ, De Paepe A, Lachman RS, Rimoin DL, Eyre DR, Cohn DH.

    J Med Genet. 2000 Apr;37(4):263-71.PMID: 10745044 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene.

    Ballo R, Beighton PH, Ramesar RS.

    Am J Med Genet. 1998 Oct 30;80(1):6-11.PMID: 9800905 [PubMed - indexed for MEDLINE]Related articles

    11.

    Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.

    Weis MA, Wilkin DJ, Kim HJ, Wilcox WR, Lachman RS, Rimoin DL, Cohn DH, Eyre DR.

    J Biol Chem. 1998 Feb 20;273(8):4761-8.PMID: 9468540 [PubMed - indexed for MEDLINE]Related articlesFree article

    12.

    Type II collagen pro-alpha-chains containing a Gly574Ser mutation are not incorporated into the cartilage matrix of transgenic mice.

    Maddox BK, Garofalo S, Keene DR, Smith C, Horton WA.

    Matrix Biol. 1997 Aug;16(3):93-103.PMID: 9314159 [PubMed - indexed for MEDLINE]Related articles

    13.

    New form of bone dysplasia with multiple fractures associated with monosomy X.

    Azouz EM, Chen MF, Khalifé S, Cartier L, Eydoux P.

    Am J Med Genet. 1996 Dec 11;66(2):163-8.PMID: 8958323 [PubMed - indexed for MEDLINE]Related articles

    14.

    An alpha 1(II) Gly913 to Cys substitution prevents the matrix incorporation of type II collagen which is replaced with type I and III collagens in cartilage from a patient with hypochondrogenesis.

    Mundlos S, Chan D, McGill J, Bateman JF.

    Am J Med Genet. 1996 May 3;63(1):129-36.PMID: 8723098 [PubMed - indexed for MEDLINE]Related articles

    15.

    Cardiac malformation in two infants with hypochondrogenesis.

    Potocki L, Abuelo DN, Oyer CE.

    Am J Med Genet. 1995 Nov 20;59(3):295-9. Review.PMID: 8599352 [PubMed - indexed for MEDLINE]Related articles

    16.

    Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.

    Tiller GE, Polumbo PA, Weis MA, Bogaert R, Lachman RS, Cohn DH, Rimoin DL, Eyre DR.

    Nat Genet. 1995 Sep;11(1):87-9.PMID: 7550321 [PubMed - indexed for MEDLINE]Related articles

    17.

    Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis.

    Ritvaniemi P, Körkkö J, Bonaventure J, Vikkula M, Hyland J, Paassilta P, Kaitila I, Kääriäinen H, Sokolov BP, Hakala M, et al.

    Arthritis Rheum. 1995 Jul;38(7):999-1004.PMID: 7612049 [PubMed - indexed for MEDLINE]Related articles

    18.

    Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships.

    Bonaventure J, Cohen-Solal L, Ritvaniemi P, Van Maldergem L, Kadhom N, Delezoide AL, Maroteaux P, Prockop DJ, Ala-Kokko L.

    Biochem J. 1995 May 1;307 ( Pt 3):823-30.PMID: 7741714 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.

    Tiller GE, Weis MA, Polumbo PA, Gruber HE, Rimoin DL, Cohn DH, Eyre DR.

    Am J Hum Genet. 1995 Feb;56(2):388-95.PMID: 7847372 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer.

    Mortier GR, Wilkin DJ, Wilcox WR, Rimoin DL, Lachman RS, Eyre DR, Cohn DH.

    Hum Mol Genet. 1995 Feb;4(2):285-8.PMID: 7757081 [PubMed - indexed for MEDLINE]Related articles

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