Literature DB >> 2193487

The lethal osteochondrodysplasias.

J Spranger1, P Maroteaux.   

Abstract

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Mesh：

Year:  1990        PMID： 2193487     DOI： 10.1007/978-1-4757-9065-8_1

Source DB:  PubMed          Journal:  Adv Hum Genet        ISSN： 0065-275X


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  17 in total

Review 1.  Achondrogenesis type 1B.

Authors:  A Superti-Furga
Journal:  J Med Genet       Date:  1996-11       Impact factor: 6.318

2.  The chondrodystrophy, nanomelia: biosynthesis and processing of the defective aggrecan precursor.

Authors:  B M Vertel; B L Grier; H Li; N B Schwartz
Journal:  Biochem J       Date:  1994-07-01       Impact factor: 3.857

Review 3.  Atelosteogenesis type 2.

Authors:  R Newbury-Ecob
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

4.  Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.

Authors:  G A Wallis; B Rash; W A Sweetman; J T Thomas; M Super; G Evans; M E Grant; R P Boot-Handford
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

Review 5.  Achondroplasia: a comprehensive clinical review.

Authors:  Richard M Pauli
Journal:  Orphanet J Rare Dis       Date:  2019-01-03       Impact factor: 4.123

6.  Metatropic dysplasia lethal variants.

Authors:  Christine M Hall; Nursel H Elçioglu
Journal:  Pediatr Radiol       Date:  2003-10-18

7.  SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia.

Authors:  W A Sweetman; B Rash; B Sykes; P Beighton; J T Hecht; B Zabel; J T Thomas; R Boot-Handford; M E Grant; G A Wallis
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025

8.  Reduced amounts of cartilage collagen fibrils and growth plate anomalies in transgenic mice harboring a glycine-to-cysteine mutation in the mouse type II procollagen alpha 1-chain gene.

Authors:  S Garofalo; E Vuorio; M Metsaranta; R Rosati; D Toman; J Vaughan; G Lozano; R Mayne; J Ellard; W Horton
Journal:  Proc Natl Acad Sci U S A       Date:  1991-11-01       Impact factor: 11.205

9.  Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.

Authors:  J Hästbacka; A Superti-Furga; W R Wilcox; D L Rimoin; D H Cohn; E S Lander
Journal:  Am J Hum Genet       Date:  1996-02       Impact factor: 11.025

10.  A lethal skeletal dysplasia with features of chondrodysplasia punctata and osteogenesis imperfecta: an example of Astley-Kendall dysplasia. Further delineation of a rare genetic disorder.

Authors:  N Elçioglu; C M Hall
Journal:  J Med Genet       Date:  1998-06       Impact factor: 6.318
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