Last Posted: May 28, 2019
- Noninvasive prenatal test for FGFR3-related skeletal dysplasia based on next-generation sequencing and plasma cell-free DNA: Test performance analysis and feasibility exploration.
Ren Yuan et al. Prenatal diagnosis 2018 38(11) 821-828
- Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children.
Boudewyns An et al. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2018 Jul 39(6) 732-738
- Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a National Health Service Laboratory; From Dominant to Recessive Disorders.
Drury Suzanne et al. Advances in experimental medicine and biology 2016 92471-75
- 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.
Orhant Lucie, et al. Prenatal diagnosis 2016 2
- Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia.
Zhao Rong, et al. International journal of clinical and experimental medicine 2015 0 (10) 19241-9
- A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.
Zhang Huiwen, et al. Journal of human genetics 2015 9
- Clinical and genetic characteristics of craniosynostosis in Hungary.
Bessenyei Beáta, et al. American journal of medical genetics. Part A 2015 8
- FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.
Xue Yuan, et al. Molecular genetics & genomic medicine 2014 11 (6) 497-503
- Molecular studies of achondroplasia.
Nahar Risha, et al. Indian journal of orthopaedics 2009 4 (2) 194-6
- Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal.
Almeida M R, et al. Clinical genetics 2009 2 (2) 150-6
- Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis.
Hung Chia-Cheng, et al. Clinical biochemistry 2008 2 (3) 162-6
- An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia.
Etlik Ozdal, et al. Molecular and cellular probes 2008 4 (2) 71-5
- Accurate diagnosis of a homozygous G1138A mutation in the fibroblast growth factor receptor 3 gene responsible for achondroplasia.
Satiroglu-Tufan N Lale, et al. The Tohoku journal of experimental medicine 2006 2 (2) 103-7
- Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis.
Su Yi-Ning, et al. Journal of human genetics 2004 0 (8) 399-403
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.