Results 31 to 40 of about 2,478 (209)

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   +2 more sources

Temporal lobe dysplasia: a characteristic sonographic finding in thanatophoric dysplasia [PDF]

Ultrasound in Obstetrics & Gynecology, 2014
ABSTRACTObjectiveTo determine the incidence of temporal lobe dysplasia (TLD) detected on prenatal ultrasound in thanatophoric dysplasia (TD) over an 11‐year period in a tertiary referral center.MethodsAn 11‐year retrospective review of perinatal autopsies from 2002 to 2013 was performed to identify cases of TD.
David C. Wang, Patrick Shannon, Ants Toi, David Chitayat, U. Mohan, E. Barkova, Sarah Keating, George Tomlinson, Phyllis Glanc   +8 more
openalex   +4 more sources

A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia. [PDF]

Hum Mol Genet, 2012
Jin M, Yu Y, Qi H, Xie Y, Su N, Wang X, Tan Q, Luo F, Zhu Y, Wang Q, Du X, Xian CJ, Liu P, Huang H, Shen Y, Deng CX, Chen D, Chen L.   +17 more
europepmc   +2 more sources

National survey of prevalence and prognosis of thanatophoric dysplasia in Japan. [PDF]

Pediatr Int, 2019
Sawai H, Oka K, Ushioda M, Nishimura G, Omori T, Numabe H, Kosugi S.   +6 more
europepmc   +3 more sources

Variable Antenatal Sonographic Findings of Thanatophoric Dysplasia- A Case Series [PDF]

Journal of Clinical and Diagnostic Research, 2020
Thanatophoric dysplasia is a lethal osteochondral dysplasia which occurs sporadically in 1/64,000-100,000 total live births and it is very common of the congenital lethal skeletal dysplasias.
Richa Verma, Navneet Sharma
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   +2 more sources

Thanatophoric dysplasia

, 2010
Tim Luijkx, Hani Salam
openalex   +2 more sources

Prenatal Diagnosis of Skeletal Dysplasia and Review of the Literature

Case Reports in Obstetrics and Gynecology, 2021
Introduction. Obstetric ultrasonography is routinely used to screen for fetal anomalies. Thanatophoric dysplasia (TD) is one of the common though rare lethal skeletal dysplasia, detected during routine ultrasound scan. TD is caused by a mutation in FGFR3
Bashiru Babatunde Jimah, Teresa Aba Mensah, Kofi Ulzen-Appiah, Benjamin Dabo Sarkodie, Dorothea Akosua Anim, Emmanuella Amoako, Evelyn Antwiwaa Gyamfi   +6 more
doaj   +1 more source

The Role of Prenatal Ultrasound and Added Value of Post-Mortem Radiographic Imaging With X-Ray and CT in Suspected Fetal Skeletal Dysplasia. [PDF]

Prenat Diagn
ABSTRACT Objective This study aims to assess the diagnostic value of post‐mortem radiographic imaging compared with prenatal ultrasound in suspected fetal skeletal dysplasias in a large Finnish cohort. Method Prenatal ultrasound findings and their association with post‐mortem radiographic imaging were evaluated in a cohort of 36 fetuses with prenatally
Rajala K, Toiviainen-Salo S, Mäkitie O, Stefanovic V, Tanner L.   +4 more
europepmc   +2 more sources

Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study. [PDF]

Acta Obstet Gynecol Scand
Of the 147 SD fetuses, 58 cases with negative CMA results underwent WES, and 21 genes with pathogenic/likely pathogenic variants were detected in 21 cases, including FGFR3 (n = 11), COL1A1 (n = 2), COL1A2 (n = 1), RUNX2 (n = 1), COL2A1 (n = 1), LMX1B (n = 1), GLI3 (n = 1), DYNC2H1 (n = 1), ALPL (n = 1), and SHOX (n = 1).
Jiang M, Zhang B, Wang J, Qiao W, Mao X, Yu B.   +5 more
europepmc   +2 more sources