Results 141 to 150 of about 2,478 (209)

A central nervous system specific mouse model for thanatophoric dysplasia type II [PDF]

, 2003
Tian Lin
openalex   +1 more source

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

, 2003
V.J. Hyland, Stephen P. Robertson, Simon Flanagan, Ravi Savarirayan, Tony Roscioli, J. Masel, Mark Hayes, Ian Glass   +7 more
openalex   +1 more source

P33.09: 3D ultrasound, MRI and molecular diagnosis of thanatophoric dysplasia type I [PDF]

, 2007
K. M. J. Min Jenog, Kepple Dm, Kim Sa Jin   +2 more
openalex   +1 more source

Thanatophoric Dysplasia

Medical Journal of Clinical Trials & Case Studies, 2021
openaire   +1 more source

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  

Growth and development in thanatophoric dysplasia - an update 25 years later. [PDF]

Clin Case Rep, 2013
Nikkel SM, Major N, King WJ.
europepmc   +1 more source

Sprouty 2 disturbs FGFR3 degradation in thanatophoric dysplasia type II: A severe form of human achondroplasia [PDF]

, 2008
Changsheng Guo, Catherine Degnin, Melanie B. Laederich, Gregory P. Lunstrum, Paul Holden, Jeanie Bihlmaier, Deborah Krakow, Yoon-Jae Cho, William A. Horton   +8 more
openalex   +1 more source

Thanatophoric dysplasia.

JBR-BTR : organe de la Societe royale belge de radiologie (SRBR) = orgaan van de Koninklijke Belgische Vereniging voor Radiologie (KBVR), 1997
Vanhoenacker, Filip, de Schepper, Arthur, de Smedt, M., Willems, P.   +3 more
openaire   +3 more sources

Thanatophoric dysplasia type 1 [PDF]

, 2020

openalex   +1 more source

Micro CT Analysis of Spine Architecture in a Mouse Model of Scoliosis [PDF]

, 2015
Brian P. Chen, Chan Gao, Janet E. Henderson, Jasmine Hui, Jean A. Ouellet, Michael B. Sullivan, Neil Saran   +6 more
core   +1 more source