Human Genome Epidemiology Literature Finder
Records 1 - 16 (of 16 Records) |
Query Trace: Achondroplasia and FGFR3[original query] |
---|
Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis. Journal of human genetics 2004 49 (8): 399-403. Su Yi-Ning, Lee Chien-Nan, Chien Shu-Chin, Hung Chia-Cheng, Chien Yin-Hsiu, Chen Chi- |
Accurate diagnosis of a homozygous G1138A mutation in the fibroblast growth factor receptor 3 gene responsible for achondroplasia. The Tohoku journal of experimental medicine 2006 Feb 208 (2): 103-7. Satiroglu-Tufan N Lale, Tufan A Cevik, Semerci C Nur, Bagci Husey |
An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia. Molecular and cellular probes 2008 Apr 22 (2): 71-5. Etlik Ozdal, Koksal Vedat, Tugba Arican-Baris Saniye, Baris Ibrah |
Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis. Clinical biochemistry 2008 Feb 41 (3): 162-6. Hung Chia-Cheng, Lee Chien-Nan, Chang Chien-Hui, Jong Yuh-Jyh, Chen Chih-Ping, Hsieh Wu-Shiun, Su Yi-Ning, Lin Win- |
Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal. Clinical genetics 2009 Feb 75 (2): 150-6. Almeida M R, Campos-Xavier A B, Medeira A, Cordeiro I, Sousa A B, Lima M, Soares G, Rocha M, Saraiva J, Ramos L, Sousa S, Marcelino J P, Correia A, Santos H |
Molecular studies of achondroplasia. Indian journal of orthopaedics 2009 Apr 43 (2): 194-6. Nahar Risha, Saxena Renu, Kohli Sudha, Puri Ratna, Verma Ishwar Chand |
Prevalence of Mutations in the FGFR3 Gene in Individuals with Idiopathic Short Stature. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2014 5 15 (2): 61-4. Mamada Mitsukazu, Yorifuji Tohru, Kurokawa Keiji, Kawai Masahiko, Momoi Toru, Nakahata Tatsutos |
A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing. Journal of human genetics 2015 Sep . Zhang Huiwen, Yang Rui, Wang Yu, Ye Jun, Han Lianshu, Qiu Wenjuan, Gu Xuef |
Clinical and genetic characteristics of craniosynostosis in Hungary. American journal of medical genetics. Part A 2015 Aug . Bessenyei Beáta, Nagy Andrea, Szakszon Katalin, Mokánszki Attila, Balogh Erzsébet, Ujfalusi Anikó, Tihanyi Mariann, Novák László, Bognár László, Oláh É |
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. Molecular genetics & genomic medicine 2014 Nov 2 (6): 497-503. Xue Yuan, Sun Angela, Mekikian P Betty, Martin Jorge, Rimoin David L, Lachman Ralph S, Wilcox William |
Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia. Prenatal diagnosis 2016 Feb . Orhant Lucie, Anselem Olivia, Fradin Mélanie, Becker Pierre Hadrien, Beugnet Caroline, Deburgrave Nathalie, Tafuri Gilles, Letourneur Franck, Goffinet François, El Khattabi Laïla Allach, Leturcq France, Bienvenu Thierry, Tsatsaris Vassilis, Nectoux Juliet |
Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia. International journal of clinical and experimental medicine 2015 8 (10): 19241-9. Zhao Rong, Ruan Yan, Wang X |
Diagnostic, treatment and outcome possibilities in achondroplasia. Medicine and pharmacy reports 2021 9 94 (Suppl No 1): S22-S24. Bucerzan Simona, Alkhzouz Camelia, Crisan Mirela, Miclea Diana, Asavoaie Carmen, Ilies Roxana, Grigorescu-Sido Pau |
Prenatal diagnosis of genetic aberrations in fetuses with short femur detected by ultrasound: A prospective cohort study. Prenatal diagnosis 2021 Jun . Li Qinqin, Zhang Zhu, Wang Jiamin, Zhang Haixia, Zhu Hongmei, Lai Yi, Liu Shanling, Wang He, Hu Ti |
Evaluation of Volumetric Bone Mineral Density, Bone Microarchitecture, and Bone Strength in Patients with Achondroplasia Caused by FGFR3 c.1138G?>?A Mutation. Calcified tissue international 2022 10 112 (1): 13-23. Liang Hanting, Qi Wenting, Jin Chenxi, Pang Qianqian, Liu Wei, Jiang Yan, Wang Ou, Li Mei, Xing Xiaoping, Pan Hui, Xia Wei |
Achondroplasia: Clinical, Radiological and Molecular Profile from Rare Disease Centre, India. Journal of pediatric genetics 2023 1 12 (1): 42-47. Goyal Manisha, Gupta Ashok, Bhandari Anu, Faruq Mohamm |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 16, 2024
- Content source: