Literature DB >> 1201340

Pseudoachondroplasia.

J G Hall.   

Abstract

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Year:  1975        PMID: 1201340

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN: 0547-6844


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  9 in total

Review 1.  Review and hypotheses: somatic mosaicism: observations related to clinical genetics.

Authors:  J G Hall
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

Review 2.  Novel therapeutic interventions for pseudoachondroplasia.

Authors:  Karen L Posey; Jacqueline T Hecht
Journal:  Bone       Date:  2017-03-21       Impact factor: 4.398

3.  Severe pseudoachondroplasia with parental consanguinity.

Authors:  I D Young; J R Moore
Journal:  J Med Genet       Date:  1985-04       Impact factor: 6.318

4.  The mild form of pseudoachondroplasia. Identity of the morphological and biochemical alterations of growth cartilage with those of typical pseudoachondroplasia.

Authors:  P Maroteaux; R Stanescu; V Stanescu; G Fontaine
Journal:  Eur J Pediatr       Date:  1980-05       Impact factor: 3.183

5.  Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia.

Authors:  C G Woods; J G Rogers; V Mayne
Journal:  J Med Genet       Date:  1994-07       Impact factor: 6.318

Review 6.  Achondroplasia: a comprehensive clinical review.

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

7.  Morphologic studies in the skeletal dysplasias.

Authors:  D O Sillence; W A Horton; D L Rimoin
Journal:  Am J Pathol       Date:  1979-09       Impact factor: 4.307

8.  Structural changes of collagen fibrils in skeletal dysplasias. Ultrastructural findings in the iliac crest.

Authors:  H Stöss; H J Pesch
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1985

Review 9.  Pseudoachondroplasia/COMP - translating from the bench to the bedside.

Authors:  Karen LaShea Posey; Joseph L Alcorn; Jacqueline T Hecht
Journal:  Matrix Biol       Date:  2014-06-02       Impact factor: 11.583

  9 in total

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