Literature DB >> 7968151

First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia.

G A Bellus, C S Escallon, R Ortiz de Luna, J B Shumway, K J Blakemore, I McIntosh, C A Francomano.   

Abstract

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Year:  1994        PMID： 7968151     DOI： 10.1016/s0140-6736(94)90332-8

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  4 in total

Review 1.  Advances in research on and diagnosis and treatment of achondroplasia in China.

Authors:  Yao Wang; Zeying Liu; Zhenxing Liu; Heng Zhao; Xiaoyan Zhou; Yazhou Cui; Jinxiang Han
Journal:  Intractable Rare Dis Res       Date:  2013-05

2.  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

Review 3.  Neurological Manifestations of Achondroplasia.

Authors:  John B Bodensteiner
Journal:  Curr Neurol Neurosci Rep       Date:  2019-11-28       Impact factor: 5.081

4.  Molecular studies of achondroplasia.

Authors:  Risha Nahar; Renu Saxena; Sudha Kohli; Ratna Puri; Ishwar Chandra Verma
Journal:  Indian J Orthop       Date:  2009-04       Impact factor: 1.251
  4 in total

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