Results 111 to 120 of about 2,478 (209)

Fibroblast growth factor receptor 3 activation plays a causative role in urothelial cancer pathogenesis in cooperation with Pten loss in mice [PDF]

, 2014
Although somatic mutations and overexpression of the tyrosine kinase fibroblast growth factor receptor 3 (FGFR3) are strongly associated with bladder cancer, evidence for their functional involvement in the pathogenesis remains elusive.
Ahmad, Ahmad, Ahmad, Askham, Billerey, Brooks, Calderaro, Castillo-Martin, Chesi, Cho, Duenas, Dupuy, Gavine, Goetz, Guagnano, Herr, Iwata, Iwata, Iwata, Jebar, Juanpere, Knowles, Kompier, Kong, Korkolopoulou, Laederich, Lamont, Lamy, Lesche, Lindgren, Logie, Lopez-Knowles, Mo, Novak, Platt, Puzio-Kuter, Qing, Rhijn, Ross, Shin, Sjodahl, Stenzl, Tomlinson, Tomlinson, Tsuruta, Yohn, Yoo, Zhang, Zieger   +48 more
core   +1 more source

A 6-year Experience of Fetal Skeletal Anomalies Prenatal Diagnosis at Anomaly Clinic, Siriraj Hospital

Siriraj Medical Journal, 2006
Objective: The purposes of this study were to review the prevalence of skeletal dysplasias among fetal anomaly cases and to demonstrate common findings detected prenatally by ultrasonography. Methods: Twenty prenatal cases diagnosed of skeletal anomalies
Kusol Russameecharoen, Buraya Phattanachindakun, Siripong Swasdimongkol, Chanchai Vantanasiri, Sommai Viboonchard   +4 more
doaj  

Thanatophoric Dysplasia —A Lethal Skeletal Dysplasia

Journal of Enam Medical College, 2016
Abstract not availableJ Enam Med Col 2016; 6(1): 55 ...
openaire   +2 more sources

Selective Mutation Accumulation: A Computational Model of the Paternal Age Effect [PDF]

, 2016
Motivation: As the mean age of parenthood grows, the effect of parental age on genetic disease and child health becomes ever more important. A number of autosomal dominant disorders show a dramatic paternal age effect due to selfish mutations ...
Nwala, Alexander C., Olariu, Stephan, Osgood, Christopher, Whelan, Eoin C.   +3 more
core   +2 more sources

Thanatophoric dysplasia in nonadherent to antenatal care in low middle income country: a rare case reports. [PDF]

Ann Med Surg (Lond), 2023
Shrestha AB, Chapagain S, Umar TP, Yadav RS, Shrestha S, Bhandari K, Sedai R, Poudel A, Mahat C, Sharma S, Bhandari A.   +10 more
europepmc   +1 more source

Clinical and biological characteristics of cervical neoplasias with FGFR3 mutation [PDF]

, 2005
BACKGROUND: We have previously reported activating mutations of the gene coding for the fibroblast growth factor receptor 3 (FGFR3) in invasive cervical carcinoma.
Aubriot, Marie-Hélène, Bourdin, Jérôme, Cappellen, David, Cartier, Isabelle, Radvanyi, François, Rosty, Christophe, Sastre-Garau, Xavier, Thiery, Jean Paul   +7 more
core   +3 more sources

Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family

Diagnostic Pathology, 2017
Background The dimerization efficiency of FGFR3 transmembrane domain plays a critical role in the formation of a normal skeleton through the negative regulation of bone development.
Muhammad Ajmal, Asif Mir, Muhammad Shoaib, Salman Akbar Malik, Muhammad Nasir   +4 more
doaj   +1 more source

Development of individuals with thanatophoric dysplasia surviving beyond infancy. [PDF]

Pediatr Int, 2022
Ushioda M, Sawai H, Numabe H, Nishimura G, Shibahara H.   +4 more
europepmc   +1 more source

Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongue

The Turkish Journal of Pediatrics, 2008
Larsen syndrome is characterized by multiple joint dislocations, associated with a typical facial appearance and frequently other abnormalities. Both dominant and recessive patterns of inheritance have been reported.
Diclehan Orhan, Sevim Balci, Ozgür Deren, Eda Gülen Utine, Ahmet Başaran, Gülsev Kale   +5 more
doaj  

Role of Autopsy and Genetic Testing in the Diagnosis of Perinatal Deaths due to Congenital Anomalies: A Cross-sectional Study [PDF]

Indian Journal of Neonatal Medicine and Research
Introduction: Foetal autopsy is one of the primary modalities for establishing the underlying causative aetiology in congenitally anomalous foetuses. Genetic aetiology is the cause in at least half of the foetuses.
Asaranti Kar, Shreya Rath, Pallavi Bhuya, Sasmita Panda, Tushar Kar, Lity Mohanty, Lilabati Guru   +6 more
doaj   +1 more source