Results 61 to 70 of about 12,084,964 (131)

Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia

, 2003
In this communication, we report the identification of a mosaic R248C missense mutation in the IgII-III linker region of the gene encoding the fibroblast growth factor receptor-3 (FGFR3), in an individual who manifests a skeletal dysplasia and epidermal ...
Savarirayan, Ravi, Hayes, Mark, Flanagan, Simon, Glass, Ian A., Hyland, Valentine J., Roscioli, Tony, Masel, John, Robertson, Stephen P.   +7 more
core   +1 more source

Thanatophoric dysplasia type 2: prenatal diagnosis through fetal ultrasound and next-generation sequencing

Thanatophoric dysplasia type 2 (TDII) is a rare and intractable genetic disease caused by de novo mutations in the FGFR3 gene, characterized by severe skeletal anomalies; this condition is lethal during the perinatal period and has a prevalence of 0.21-0.
Wilmar Saldarriaga, Viviana López-López, Manuel A. Vásquez-Salguero   +2 more
core   +1 more source

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
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Case of Monostotic Fibrous Dysplasia in the hand [PDF]

, 2002
A case of monostotic fibrous dysplasia in the proximal phalanx of an otherwise healthy, twenty-five year old is discussed. Fibrous dysplasia in the hand is rarely seen. Our patient presented with a swelling in his proximal phalanx.
Sciberras, Carmel, Zammit, Jason, Attard, Gerhardt   +2 more
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A thanatophoric dysplasia type i case with a fgfr3 p.r248c mutation and survival ibeyond the neonatal period

, 2016
A thanatophoric dysplasia type / 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 ...

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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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Prenatal Diagnosis and Genetic Analysis of Type I and Type Ii Thanatophoric Dysplasia

, 2009
Thanatophoric dysplasia (TD) is one of the most common neonatal lethal skeletal dysplasias. Prenatal sonographic and molecular genetic diagnoses of three cases of TD type I( TD1) and one case of TD type II (TD2) are presented here.
CHEN, CHIH-PING;CHERN, SCHU-RERN;SHIH, JIN-CHUNG;WANG, WAYSEEN;CHANG, TUNG-YAO;TZEN, CHIN-YUAN, 陳持平;陳樹人;施景中;王偉信;張東耀;曾岐元   +1 more
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Thanatophoric dysplasia: A case report with probable recurrence [PDF]

, 2017
Thanatophoric dysplasia (TD) is a congenital, sporadic, and the most lethal skeletal dysplasia caused by new mutation in the fibroblast growth factor receptor 3 gene.
Shankari, N Vidhya, Charan, Lakshmi, Raj, Sushmitha, Jerry, Antony Leo   +3 more
core  

Thanatophoric Dysplasia Type I Confirmed by Fibroblast Growth Factor Receptor 3 (FGFR3) Mutation: Clinical Course and Ethical Considerations. [PDF]

Cureus
Soares MI, Veríssimo P, Coelho C, Branco RA, Marçal M.   +4 more
europepmc   +1 more source

Prenatal diagnosis of bone dysplasias. [PDF]

Br J Radiol, 2023
Nishimura G, Handa A, Miyazaki O, Tsujioka Y, Murotsuki J, Sawai H, Yamada T, Kozuma Y, Takahashi Y, Ozawa K, Pooh R, Sase M.   +11 more
europepmc   +1 more source