Results 91 to 100 of about 66,813 (153)

Thanatophoric Dysplasia Variant, San Diego Type in a Chinese Fetus, Caused by C746G Missense Mutation in FGFR3 Gene CP LEE

, 2006
Thanatophoric dysplasia variant − San Diego type (TD-SD) is a variant of thanatophoric dysplasia (TD), sharing with TD subtype TD1, common mutations in the FGFR3 gene.
Sts Lam, Tmf Tong, S Lo, E Lau, Msc Sts Tong, Lam, PhD E Lau, C P Lee, Acf Lam, Fhkam, Mhy Tang, Tmf Mrcpch   +11 more
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Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasia.

, 2002
Skeletal dysplasias, a heterogeneous group of bone growth disorders, can be detected by routine prenatal ultrasound examination. As it is difficult to make a specific diagnosis, prediction of prognosis is of importance for obstetric management.
Kölble N, Superti-Furga A, Eich G, Huch R, Ersch J, Sobetzko D, Stallmach T, Huch A, Wisser J   +8 more
core   +1 more source

Thanatophoric dysplasia variant, San Diego type in a Chinese fetus, caused by C746G missense mutation in FGFR3 gene

, 2006
Thanatophoric dysplasia variant - San Diego type (TD-SD) is a variant of thanatophoric dysplasia (TD), sharing with TD subtype TD1, common mutations in the FGFR3 gene.
Tong, TMF, Tang, MHY, Lam, STS, Lam, ACF, Lee, CP, Lau, E, Lo, S   +6 more
core  

Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis.

, 2017
OBJECTIVE: The purpose of the paper was to assess the morphometric parameters to improve the specificity of the ultrasound (US) signs for the early differential diagnosis between two lethal dysplasias, as thanatophoric dysplasia (TD) and osteogenesis
Baldi, M, Claudia Izzi, Giuseppe Di Gaetano, Di Gaetano, G, Ugo Ernesto Pazzaglia, Maurizia Baldi, Pazzaglia, U, Maria Pia Bondioni, Izzi, C, Laffranchi, F, Federico Prefumo, Bondioni, Mp, Francesco Laffranchi, Prefumo, F.   +13 more
core   +1 more source

A THANATOPHORIC DYSPLASIA TYPE I CASE WITH A FGFR3 P.R248C MUTATION AND SURVIVAL BEYOND THE NEONATAL PERIOD

, 2016
A thanatophoric dysplasia type I case with a FGFR3 p.R248C mutation and survival beyond the neonatal period: Thanatophoric dysplasia, is a severe congenital anomaly which mostly causes stillbirth or death of the affected baby within hours due to ...
Sahin, S., Ograg, H., Akcan, A. B., Aslan, E. Atas, Elcioglu, N. H., Moosa, S., Turkmen, M. Kaynak   +6 more
core   +3 more sources

Elastic scattering spectroscopy accurately detects high grade dysplasia and cancer in Barrett's oesophagus [PDF]

, 2006
Background and aims: Endoscopic surveillance of Barrett’s oesophagus currently relies on multiple random biopsies. This approach is time consuming, has a poor diagnostic yield, and significant interobserver variability. Elastic scattering spectroscopy is
Lovat, L.B., Bigio, I., Johnson, K., Davies, S., Thorpe, S.M., Bown, S.G., Fitzgerald, R., Clark, B.R., Novelli, M.R., Mackenzie, G.D., Pickard, D., Fearn, T., Selvasekar, C., O’Donovan, M.   +13 more
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Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II

Taiwanese Journal of Obstetrics & Gynecology
Objective: We present perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking ...
Chih-Ping Chen, Jian-Pei Huang, Kun-Shuo Huang, Yi-Yung Chen, Fang-Tzu Wu, Yen-Ting Pan, Chien-Ling Chiu, Wayseen Wang   +7 more
doaj   +1 more source

A Newborn Case Diagnosed with Thanatophoric Dysplasia Type 1

, 2019
Tanatoforik displazi, fibroblast büyüme faktörü reseptörü 3 (FGFR3) genindeki mutasyonun neden olduğu, kısa ekstremiteler ile kendini gösteren letal bir iskelet displazisi tablosudur.
Aydın, Mustafa, Çetinkaya, Petek Uzay, Hakan, Nilay   +2 more
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A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia

, 2012
Data source: Supplementary data, https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/dds390#supplementary-dataGain-of-function mutations in fibroblast growth factor receptor-3 (FGFR3) lead to several types of human skeletal dysplasia syndromes ...
Yu, Y., Liu, P., Shen, Y., Wang, Q., Xian, C., Deng, C., Qi, H., Tan, Q., Xie, Y., Su, N., Luo, F., Du, X., Chen, L., Jin, M., Wang, X., Huang, H., Zhu, Y., Chen, D.   +17 more
core   +1 more source

Generation of Fgfr3 Conditional Knockout Mice

International Journal of Biological Sciences, 2010
Fibroblast growth factor receptor 3 (FGFR3), highly conserved in both humans and murine, is one of key tyrosine kinase receptors for FGF. FGFR3 is expressed in different tissues, including cartilage, brain, kidney, and intestine at different development ...
Nan Su, Xiaoling Xu, Cuiling Li, Qifen He, Ling Zhao, Can Li, Siyu Chen, Fengtao Luo, Lingxian Yi, Xiaolan Du, Haiyang Huang, Chuxia Deng, Lin Chen
doaj