Results 51 to 60 of about 12,084,964 (131)

Thanatophoric Dysplasia Variant, San Diego Type in a Chinese Fetus, Caused by C746G Missense Mutation in FGFR3 Gene CP LEE

, 2006
Thanatophoric dysplasia variant − San Diego type (TD-SD) is a variant of thanatophoric dysplasia (TD), sharing with TD subtype TD1, common mutations in the FGFR3 gene.
Sts Lam, Tmf Tong, S Lo, E Lau, Msc Sts Tong, Lam, PhD E Lau, C P Lee, Acf Lam, Fhkam, Mhy Tang, Tmf Mrcpch   +11 more
core  

Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis.

, 2017
OBJECTIVE: The purpose of the paper was to assess the morphometric parameters to improve the specificity of the ultrasound (US) signs for the early differential diagnosis between two lethal dysplasias, as thanatophoric dysplasia (TD) and osteogenesis
Baldi, M, Claudia Izzi, Giuseppe Di Gaetano, Di Gaetano, G, Ugo Ernesto Pazzaglia, Maurizia Baldi, Pazzaglia, U, Maria Pia Bondioni, Izzi, C, Laffranchi, F, Federico Prefumo, Bondioni, Mp, Francesco Laffranchi, Prefumo, F.   +13 more
core   +1 more source

Thanatophoric dysplasia variant, San Diego type in a Chinese fetus, caused by C746G missense mutation in FGFR3 gene

, 2006
Thanatophoric dysplasia variant - San Diego type (TD-SD) is a variant of thanatophoric dysplasia (TD), sharing with TD subtype TD1, common mutations in the FGFR3 gene.
Tong, TMF, Tang, MHY, Lam, STS, Lam, ACF, Lee, CP, Lau, E, Lo, S   +6 more
core  

Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. [PDF]

, 2013
To improve the prenatal diagnosis of thanatophoric dysplasia by defining the change in fetal size across gestation and the frequency of sonographic features, and developing non-invasive molecular genetic diagnosis based on cell-free fetal DNA (cffDNA) in
Griffin, David R., Chitty, LS, Griffin, DR, Khalil, A, Pajkrt, E, Chitty, Lyn S., Cole, Tim J., Pajkrt, Eva, Barrett, Angela N., Cole, TJ, Barrett, AN, Khalil, Asma   +11 more
core   +1 more source

Thanatophoric Dysplasia: a Case Report of Recurrence

, 2005
Thanatophoric dysplasia is a sporadic lethal neonatal dwarfism characterized by shortening of the limbs, macrocephaly, pear-shaped thorax and short ribs. It occurs with an estimated frequency of about 0.3-0.5 in 10000 births.
Üstün, Yusuf, Şengül, Muzaffer, Üstün, Engin Yaprak, Kamacı, Mansur, Zeteroğlu, Şahin, Şahin, Hanım Güler   +5 more
core  

Antenatal diagnosis of Thanatophoric dysplasia: a case report and review of literature [PDF]

, 2017
Thanatophoric dysplasia is the lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and short-limb dwarfism. Foetus has short neck, narrow thoracic cage and protruberant abdomen.
Kocherla, Keerthi, Kocherla, Vasantha
core  

Thanatophoric dysplasia caused by double missense FGFR3 mutations

, 2009
Thanatophoric dysplasia is a lethal chondrodysplasia caused by heterozygous fibroblast growth factor receptor 3 (FGFR3) missense mutations. Mutations have been identified in several domains of the receptor.
Laurent Schibler, Jelena Martinovic, Pannier, Stéphanie, Delezoide, Anne-Lise, Heuertz, Solange, Anne‐Lise Delezoide, Laurence Legeai‐Mallet, Legeai-Mallet, Laurence, Schibler, Laurent, Solange Heuertz, Serre, Valérie, Valérie Serre, Martinovic, Jelena, Munnich, Arnold, Stéphanie Pannier, Arnold Munnich   +15 more
core   +1 more source

A Newborn Case Diagnosed with Thanatophoric Dysplasia Type 1

, 2019
Tanatoforik displazi, fibroblast büyüme faktörü reseptörü 3 (FGFR3) genindeki mutasyonun neden olduğu, kısa ekstremiteler ile kendini gösteren letal bir iskelet displazisi tablosudur.
Aydın, Mustafa, Çetinkaya, Petek Uzay, Hakan, Nilay   +2 more
core  

Unveiling the Mystery of Thanatophoric Dysplasia: A Case Report on Clinical and Radiological Correlation in a Low-Antenatal Care Setting [PDF]

Thanatophoric Dysplasia (TD) is a rare, lethal skeletal dysplasia caused by FGFR3 gene mutations, leading to severe bone and cartilage abnormalities. TD is classified into two subtypes: Type 1, characterized by bowed femurs and a normal skull, and Type 2,
Abbas, Javeria, Wasim, Asad Ullah Wasim, Syed, Shehbano, Asif , Sara, Hamza, Muhammad, Rasheed, Zohaib   +5 more
core   +1 more source

Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2

, 2002
A fetus with thanatophoric dysplasia type 2 (TD2) associated with cloverleaf skull and abnormal development of the corpus callosum is reported. This case represents the first prenatal direct visualization of a partial agenesis of the corpus callosum (ACC)
Stefan Mundlos, Chaoui, Rabih, Kalache, K., Lehmann, Katarina, Mundlos, S., Kalache, Karim D., Chaoui, Rabin, Kivelitz, Dietmar E., Rabih Chaoui, Dietmar E. Kivelitz, Rainer Bollmann, Kivelitz, D., Bollmann, R., Karim D. Kalache, Chaoui, R., Lehmann, K., Mundlos, Stefan, Bollmann, Rainer, Katarina Lehmann   +18 more
core   +1 more source