Literature DB >> 7666407

Possible genetic heterogeneity in hypochondroplasia.

I Stoilov, M W Kilpatrick, P Tsipouras, T Costa.   

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Year:  1995        PMID： 7666407      PMCID： PMC1050496          DOI： 10.1136/jmg.32.6.492-a

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


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  8 in total

1.  Observations suggesting allelism of the achondroplasia and hypochondroplasia genes.

Authors:  V A McKusick; T E Kelly; J P Dorst
Journal:  J Med Genet       Date:  1973-03       Impact factor: 6.318

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

3.  Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p.

Authors:  C A Francomano; R I Ortiz de Luna; T W Hefferon; G A Bellus; C E Turner; E Taylor; D A Meyers; S H Blanton; J C Murray; I McIntosh
Journal:  Hum Mol Genet       Date:  1994-05       Impact factor: 6.150

4.  Growth characteristics and response to growth hormone therapy in patients with hypochondroplasia: genetic linkage of the insulin-like growth factor I gene at chromosome 12q23 to the disease in a subgroup of these patients.

Authors:  P E Mullis; M S Patel; P M Brickell; P C Hindmarsh; C G Brook
Journal:  Clin Endocrinol (Oxf)       Date:  1991-04       Impact factor: 3.478

5.  A gene for achondroplasia-hypochondroplasia maps to chromosome 4p.

Authors:  M Le Merrer; F Rousseau; L Legeai-Mallet; J C Landais; A Pelet; J Bonaventure; M Sanak; J Weissenbach; C Stoll; A Munnich
Journal:  Nat Genet       Date:  1994-03       Impact factor: 38.330

6.  The gene for achondroplasia maps to the telomeric region of chromosome 4p.

Authors:  M Velinov; S A Slaugenhaupt; I Stoilov; C I Scott; J F Gusella; P Tsipouras
Journal:  Nat Genet       Date:  1994-03       Impact factor: 38.330

7.  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

8.  Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.

Authors:  F Rousseau; J Bonaventure; L Legeai-Mallet; A Pelet; J M Rozet; P Maroteaux; M Le Merrer; A Munnich
Journal:  Nature       Date:  1994-09-15       Impact factor: 49.962
  8 in total
  2 in total

1.  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

2.  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
  2 in total

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