Literature DB >> 9875031

Skeletal dysplasias.

C G Brook1, B B de Vries.   

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Year:  1998        PMID： 9875031      PMCID： PMC1717699          DOI： 10.1136/adc.79.3.285

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  20 in total

1.  Growth and growth hormone therapy in hypochondroplasia.

Authors:  S Appan; S Laurent; M Chapman; P C Hindmarsh; C G Brook
Journal:  Acta Paediatr Scand       Date:  1990 Aug-Sep

2.  Jury still out on growth hormone for normal short stature and Turner's syndrome.

Authors:  M D Donaldson
Journal:  Lancet       Date:  1996-07-06       Impact factor: 79.321

3.  Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.

Authors:  G E Tiller; D L Rimoin; L W Murray; D H Cohn
Journal:  Proc Natl Acad Sci U S A       Date:  1990-05       Impact factor: 11.205

4.  Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).

Authors:  N N Ahmad; L Ala-Kokko; R G Knowlton; S A Jimenez; E J Weaver; J I Maguire; W Tasman; D J Prockop
Journal:  Proc Natl Acad Sci U S A       Date:  1991-08-01       Impact factor: 11.205

Review 5.  Wider indications for treatment with biosynthetic human growth hormone in children.

Authors:  P C Hindmarsh; N A Bridges; C G Brook
Journal:  Clin Endocrinol (Oxf)       Date:  1991-05       Impact factor: 3.478

6.  Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.

Authors:  B Lee; H Vissing; F Ramirez; D Rogers; D Rimoin
Journal:  Science       Date:  1989-05-26       Impact factor: 47.728

7.  Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine.

Authors:  F Oberklaid; D M Danks; F Jensen; L Stace; S Rosshandler
Journal:  J Med Genet       Date:  1979-04       Impact factor: 6.318

8.  A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.

Authors:  M L Warman; M Abbott; S S Apte; T Hefferon; I McIntosh; D H Cohn; J T Hecht; B R Olsen; C A Francomano
Journal:  Nat Genet       Date:  1993-09       Impact factor: 38.330

9.  Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.

Authors:  R Shiang; L M Thompson; Y Z Zhu; D M Church; T J Fielder; M Bocian; S T Winokur; J J Wasmuth
Journal:  Cell       Date:  1994-07-29       Impact factor: 41.582

10.  Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect.

Authors:  A Winterpacht; M Hilbert; U Schwarze; S Mundlos; J Spranger; B U Zabel
Journal:  Nat Genet       Date:  1993-04       Impact factor: 38.330
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