Results 101 to 110 of about 66,813 (153)

Type I Thanatophoric Dysplasia: Clinical Outcome in the Absence of Molecular Genetic Confirmation: A Case Report. [PDF]

Cureus
Mesbah K, Ettoini K, Khabbach K, El Boussaadni Y, Oulmaati A.   +4 more
europepmc   +1 more source

A case of thanatophoric dysplasia type 2: a novel mutation. [PDF]

J Clin Res Pediatr Endocrinol, 2015
Gülaşı S, Atıcı A, Çelik Y.
europepmc   +1 more source

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 ...

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

An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination. [PDF]

Congenit Anom (Kyoto)
Abba Deka I, Theotokis P, Manthou ME, Mathioudi A, Athanasiou E, Meditskou S.   +5 more
europepmc   +1 more source

Thanatophoric Dysplasia With Concurrent Hydroureteronephrosis: A Rare Case Report From Rural Southern India. [PDF]

Cureus
V P, Gambhir P, V S.
europepmc   +1 more source

Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization. [PDF]

Biophys J, 2015
Del Piccolo N, Placone J, Hristova K.
europepmc   +1 more source

Third-trimester 3D Ultrasound Evaluation of Thanatophoric Dysplasia Type I

Taiwanese Journal of Obstetrics & Gynecology, 2007
Chih-Ping Chen, Tung-Yao Chang, Schu-Rern Chern, Wayseen Wang   +3 more
doaj   +1 more source

Thanatophoric dysplasia: A case report

Medwave
Myriam Elizabeth Jimbo Quizhpe, Jeaneth Verónica Pacheco Segovia, César Eduardo Salazar Yánez   +2 more
doaj   +1 more source

P613: A multiplexed targeted PCR and single nucleotide extension assay for the 14 most common thanatophoric dysplasia I and II mutations

Genetics in Medicine Open, 2023
Mohamed Jama, Scott Reading, Eric Fredrickson, Yuan Ji   +3 more
doaj   +1 more source