Literature DB >> 4697848

Observations suggesting allelism of the achondroplasia and hypochondroplasia genes.

V A McKusick, T E Kelly, J P Dorst.   

Abstract

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Year:  1973        PMID： 4697848      PMCID： PMC1012968          DOI： 10.1136/jmg.10.1.11

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  2 in total

1.  Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses.

Authors:  V A McKusick; R R Howell; I E Hussels; E F Neufeld; R E Stevenson
Journal:  Lancet       Date:  1972-05-06       Impact factor: 79.321

2.  Hypochondroplasia.

Authors:  B A Walker; J L Murdoch; V A McKusick; L O Langer; R K Beals
Journal:  Am J Dis Child       Date:  1971-08
  2 in total
  16 in total

1.  Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita.

Authors:  I D Young; N R Ruggins; J M Somers; J M Zuccollo; N Rutter
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318

2.  Phenotypic diversity of human diseases resulting from allelic series.

Authors:  V A McKusick
Journal:  Am J Hum Genet       Date:  1973-07       Impact factor: 11.025

3.  Clinical and genetic heterogeneity of hypochondroplasia.

Authors:  F Rousseau; J Bonaventure; L Legeai-Mallet; H Schmidt; J Weissenbach; P Maroteaux; A Munnich; M Le Merrer
Journal:  J Med Genet       Date:  1996-09       Impact factor: 6.318

4.  Possible genetic heterogeneity in hypochondroplasia.

Authors:  I Stoilov; M W Kilpatrick; P Tsipouras; T Costa
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318

Review 5.  Genetical load in man.

Authors:  G R Fraser; O Mayo
Journal:  Humangenetik       Date:  1974-07-15

6.  Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.

Authors:  G A Bellus; E B Spector; P W Speiser; C A Weaver; A T Garber; C R Bryke; J Israel; S S Rosengren; M K Webster; D J Donoghue; C A Francomano
Journal:  Am J Hum Genet       Date:  2000-10-27       Impact factor: 11.025

7.  Hypochondroplasia.

Authors:  J F Glasgow; N C Nevin; P S Thomas
Journal:  Arch Dis Child       Date:  1978-11       Impact factor: 3.791

8.  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

Review 9.  Achondroplasia: a comprehensive clinical review.

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

10.  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
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