Literature DB >> 5564166

Hypochondroplasia.

B A Walker, J L Murdoch, V A McKusick, L O Langer, R K Beals.   

Abstract

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Mesh：

Year:  1971        PMID： 5564166     DOI： 10.1001/archpedi.1971.02110020029001

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN： 0002-922X


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  10 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.  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

3.  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

4.  A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.

Authors:  P L Tavormina; G A Bellus; M K Webster; M J Bamshad; A E Fraley; I McIntosh; J Szabo; W Jiang; E W Jabs; W R Wilcox; J J Wasmuth; D J Donoghue; L M Thompson; C A Francomano
Journal:  Am J Hum Genet       Date:  1999-03       Impact factor: 11.025

5.  Hypochondroplasia.

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

6.  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 7.  Achondroplasia: a comprehensive clinical review.

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

8.  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

9.  Viewing Victor McKusick's legacy through the lens of his bibliography.

Authors:  Sonja A Rasmussen; Ariel Pomputius; Joanna S Amberger; Ada Hamosh
Journal:  Am J Med Genet A       Date:  2021-06-23       Impact factor: 2.802

Review 10.  Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications.

Authors:  Teresa Helsten; Maria Schwaederle; Razelle Kurzrock
Journal:  Cancer Metastasis Rev       Date:  2015-09       Impact factor: 9.264
  10 in total

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