Literature DB >> 5504223

Achondroplasia--a genetic and statistical survey.

J L Murdoch, B A Walker, J G Hall, H Abbey, K K Smith, V A McKusick.   

Abstract

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Year:  1970        PMID： 5504223     DOI： 10.1111/j.1469-1809.1970.tb01648.x

Source DB:  PubMed          Journal:  Ann Hum Genet        ISSN： 0003-4800            Impact factor:   1.670


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  20 in total

1.  Changing paternal age distribution and the human mutation rate in Europe.

Authors:  B Modell; A Kuliev
Journal:  Hum Genet       Date:  1990-12       Impact factor: 4.132

2.  The severe recessive form of pseudoachondroplastic dysplasia.

Authors:  N R Dennis; P Renton
Journal:  Pediatr Radiol       Date:  1975-06-13

3.  Concomitant achondroplasia and Chiari II malformation: A double-hit at the cervicomedullary junction.

Authors:  Al-Wala Awad; Kyrieckos A Aleck; Ratan D Bhardwaj
Journal:  World J Clin Cases       Date:  2014-11-16       Impact factor: 1.337

4.  Spontaneous mutation and parental age in humans.

Authors:  N Risch; E W Reich; M M Wishnick; J G McCarthy
Journal:  Am J Hum Genet       Date:  1987-08       Impact factor: 11.025

5.  Parental age in retinoblastoma.

Authors:  C Pellié; M L Briard; J Feingold; J Frézal
Journal:  Humangenetik       Date:  1973

6.  Comments on patients with sex chromosome aneuploidy: dermatoglyphs, parental ages, Xg a blood group.

Authors:  D S Borgaonkar; E Mules
Journal:  J Med Genet       Date:  1970-12       Impact factor: 6.318

7.  Popliteal pterygium syndrome: a phenotypic and genetic analysis.

Authors:  V Escobar; D Weaver
Journal:  J Med Genet       Date:  1978-02       Impact factor: 6.318

Review 8.  The value of the study of natural history in genetic disorders and congenital anomaly syndromes.

Authors:  J G Hall
Journal:  J Med Genet       Date:  1988-07       Impact factor: 6.318

9.  Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis.

Authors:  Yi-Ning Su; Chien-Nan Lee; Shu-Chin Chien; Chia-Cheng Hung; Yin-Hsiu Chien; Chi-An Chen
Journal:  J Hum Genet       Date:  2004-06-18       Impact factor: 3.172

10.  Achondroplasia is defined by recurrent G380R mutations of FGFR3.

Authors:  G A Bellus; T W Hefferon; R I Ortiz de Luna; J T Hecht; W A Horton; M Machado; I Kaitila; I McIntosh; C A Francomano
Journal:  Am J Hum Genet       Date:  1995-02       Impact factor: 11.025
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