Results 91 to 100 of about 143,001 (214)

Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia

Taiwanese Journal of Obstetrics & Gynecology, 2018
Objective: We present prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II (TD2) and a review of prenatal diagnosis of brain anomalies associated with TD.
Chih-Ping Chen, Tung-Yao Chang, Tan-Wei Lin, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Wayseen Wang   +7 more
doaj   +1 more source

Potential Use of Fetal Genetic Material in Maternal Circulation for Prenatal Noninvasive Diagnosis of Genetic Disease [PDF]

, 2016
Prenatal diagnostic technique is used to determine whether the unborn fetus is affected with a genetic disorder or other abnormality. This technique is generally carried out for a genetic disease that is not treata-ble, in which the termination should be
Megawati, Anak Agung Dewi
core  

Thanatophoric dysplasia type 1 as seen in a tertiary institution in South-East Nigeria: A case report

, 2020
Thanatophoric dysplasia is a lethal form of skeletal dysplasia seen in neonates. The word ‘thanatophoric’ is derived from the Greek word  thanatophorus meaning death bringing.
O. Daniyan, O. Ezeanosike, C. Ogbonna-Nwosu, U. Iloduba   +3 more
semanticscholar   +1 more source

Fibroblast Growth Factor Receptor 3 (FGFR3)–Analyses of the S249C Mutation and Protein Expression in Primary Cervical Carcinomas

Analytical Cellular Pathology, 2001
Fibroblast growth factor receptor 3 (FGFR3) seems to play an inhibitory role in bone development, as activating mutations in the gene underlie disorders such as achondroplasia and thanatophoric dysplasia. Findings from multiple myeloma (MM) indicate that
Haiyan Dai, Ruth Holm, Gunnar B. Kristensen, Vera M. Abeler, Anne‐Lise Børresen‐Dale, Åslaug Helland   +5 more
doaj   +1 more source

Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II

Taiwanese Journal of Obstetrics & Gynecology, 2013
Objective: To present the ultrasound and molecular genetic diagnosis of thanatophoric dysplasia type II (TD2). Case Report: A 35-year-old, primigravid woman was referred to our institution for genetic counseling and amniocentesis at 19 weeks of gestation
Chih-Ping Chen, Tung-Yao Chang, Ming-Huei Lin, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang   +5 more
doaj   +1 more source

Protective Effects of C-Type Natriuretic Peptide on Linear Growth and Articular Cartilage Integrity in a Mouse Model of Inflammatory Arthritis [PDF]

, 2014
Objective: The C-type natriuretic peptide (CNP) signaling pathway is a major contributor to postnatal skeletal growth in humans. This study was undertaken to investigate whether CNP signaling could prevent growth delay and cartilage damage in an animal ...
Bartels, Cynthia F, Bükülmez, Hülya, Haqqi, Tariq M, Khan, Fozia, Murakami, Shunichi, Ortiz-Lopez, Adriana, Sattar, Abdus, Warman, Matthew L   +7 more
core   +1 more source

Thanatophoric dysplasia type 1 as seen in a tertiary institution in South-East Nigeria:

Nigerian Journal of Paediatrics
Thanatophoric dysplasia is a lethal form of skeletal dysplasia seen in neonates. The word ‘thanatophoric’ is derived from the Greek word thanatophorus meaning death bringing.
Daniyan OW, Ezeanosike OB, Ogbonna-Nwosu C, Iloduba UC   +3 more
doaj  

Displasia tanatofórica: Reporte de un caso y revisión Thanatophoric Dysplasia: A case report and review

Revista Colombiana de Obstetricia y Ginecología, 2008
Objetivo: presentar los hallazgos ecográficos de la displasia tanatofórica (DT) y su diagnóstico diferencial, desde el punto de vista del ultrasonido con la acondroplasia.
Alejandro Giraldo-Cuartas
doaj  

Thanatophoric dysplasia type 1 (TD1): a case report [PDF]

, 2017
Thanatophoric Dysplasia (TD) is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur,
Sharma, Chandra Madhur, Sharma, Deepti
core   +1 more source

FGFR3 and P53 characterize alternative genetic pathways in the pathogenesis of urothelial cell carcinoma [PDF]

, 2004
Fibroblast growth factor receptor 3 (FGFR3) and P53 mutations are frequently observed in bladder cancer. We here describe the distribution of FGFR3 mutations and P53 overexpression in 260 primary urothelial cell carcinomas.
Boeve, E.R., Jobsis, A.C., Kirkels, W.J. (Wim), Kwast, Th.H. (Theo) van der, Rhijn, B.W.G. (Bas) van, Vis, A.N. (André), Zwarthoff, E.C. (Ellen)   +6 more
core   +1 more source