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Items: 1 to 20 of 149

1.
A Case of Thanatophoric Dysplasia Type I with Fetal Hydrops in the First Trimester
Giannina Calongos, Masateru Hori, Mai Ogino, Hideaki Sawai
Case Rep Obstet Gynecol. 2016; 2016: 1821230. Published online 2016 Feb 23. doi: 10.1155/2016/1821230
PMCID:
PMC4781948
AbstractArticlePDF–1.1M
2.
Effect of Thanatophoric Dysplasia Type I Mutations on FGFR3 Dimerization
Nuala Del Piccolo, Jesse Placone, Kalina Hristova
Biophys J. 2015 Jan 20; 108(2): 272–278. doi: 10.1016/j.bpj.2014.11.3460
PMCID:
PMC4302202
AbstractArticlePDF–538K
3.
Thanatophoric Dysplasia Type I: A Rare Case Report at Fetal Autopsy
Reshma S Davanageri, Parul D Shokeen, Hema B Bannur, Kamal P Patil
J Lab Physicians. 2014 Jul-Dec; 6(2): 121–123. doi: 10.4103/0974-2727.141513
PMCID:
PMC4196360
AbstractArticlePDF–825K
4.
A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene
Eun Jung Noe, Han Wook Yoo, Kwang Nam Kim, So Yeon Lee
Korean J Pediatr. 2010 Dec; 53(12): 1022–1025. Published online 2010 Dec 31. doi: 10.3345/kjp.2010.53.12.1022
PMCID:
PMC3021729
AbstractArticlePDF–851K
5.
Thanatophoric dysplasia in nonadherent to antenatal care in low middle income country: a rare case reports
Abhigan Babu Shrestha, Sanskriti Chapagain, Tungki Pratama Umar, Randhir Sagar Yadav, Shumneva Shrestha, Kiran Bhandari, Ranjana Sedai, Aryan Poudel, Chadani Mahat, Shreeya Sharma, Alish Bhandari
Ann Med Surg (Lond) 2023 Nov; 85(11): 5785–5788. Published online 2023 Oct 4. doi: 10.1097/MS9.0000000000001356
PMCID:
PMC10617885
AbstractArticlePDF–324K
6.
Online Omics Platform Expedites Industrial Application of Halomonas bluephagenesis TD1.0
Helen Park, Matthew Faulkner, Helen S Toogood, Guo-Qiang Chen, Nigel Scrutton
Bioinform Biol Insights. 2023; 17: 11779322231171779. Published online 2023 May 9. doi: 10.1177/11779322231171779
PMCID:
PMC10185862
AbstractArticlePDF–2.2M
7.
Spontaneous Rupture of Unscarred Uterus in a Term Primagravida with Lethal Skeletal Dysplasia Fetus (Thanatophoric dysplasia). A Case Report and Review of the Literature
Ahmed Issak Hussein, Abdikarim Ali Omar, Hodan Abdi Hassan, Mohamed Mukhtar Kassim, Abdisalam Abdullahi Yusuf, Ahmed Adam Osman
Int Med Case Rep J. 2022; 15: 551–556. Published online 2022 Oct 6. doi: 10.2147/IMCRJ.S383195
PMCID:
PMC9549793
AbstractArticlePDF–708K
8.
Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis
Lamidi Audu, Amina Gambo, Tokan Silas Baduku, Bilkisu Farouk, Anisa Yahaya, Kefas Jacob
Case Rep Pediatr. 2022; 2022: 3056324. Published online 2022 Sep 28. doi: 10.1155/2022/3056324
PMCID:
PMC9534681
AbstractArticlePDF–653K
9.
Development of individuals with thanatophoric dysplasia surviving beyond infancy
Mariko Ushioda, Hideaki Sawai, Hironao Numabe, Gen Nishimura, Hiroaki Shibahara
Pediatr Int. 2022 Jan-Dec; 64(1): e15007. Published online 2022 Feb 9. doi: 10.1111/ped.15007
PMCID:
PMC9305791
AbstractArticlePDF–797K
10.
Should We Stop Calling Thanatophoric Dysplasia a Lethal Condition? A Case Report of a Long-Term Survivor
Ricki S. Carroll, Angela L. Duker, Andrea J. Schelhaas, Mary Ellen Little, Elissa G. Miller, Michael B. Bober
Palliat Med Rep. 2020; 1(1): 32–39. Published online 2020 May 14. doi: 10.1089/pmr.2020.0016
PMCID:
PMC8241327
AbstractArticlePDF–645K
11.
Thanatophoric dysplasia: a case report
Olusoji Edward Jagun, Mojisola Adejoke Olusola-Bello, Abiodun Folashade Adekanmbi, Omodele Oluyemisi Jagun, Tolani Oduwole
Pan Afr Med J. 2020; 37: 220. Published online 2020 Nov 5. doi: 10.11604/pamj.2020.37.220.21211
PMCID:
PMC7821799
AbstractArticlePDF–486K
12.
National survey of prevalence and prognosis of thanatophoric dysplasia in Japan
Hideaki Sawai, Kaname Oka, Mariko Ushioda, Gen Nishimura, Takashi Omori, Hironao Numabe, Shinji Kosugi
Pediatr Int. 2019 Aug; 61(8): 748–753. Published online 2019 Aug 27. doi: 10.1111/ped.13927
PMCID:
PMC6852317
AbstractArticlePDF–367K
13.
Natural variation in the THICK TASSEL DWARF1 (TD1) gene in the regulation of maize (Zea mays L.) ear-related traits
Chang Liu, Yu Zhou, Xiaocong Zhang, Jiayue Zhang, Zhiqiang Zhou, Jianfeng Weng, Xinhai Li, Zhenhua Wang
Breed Sci. 2019 Jun; 69(2): 323–331. Published online 2019 May 9. doi: 10.1270/jsbbs.18170
PMCID:
PMC6711743
AbstractArticlePDF–1.6M
14.
Draft Genome Sequence of Thermophilic Halotolerant Aeribacillus pallidus TD1, Isolated from Tao Dam Hot Spring, Thailand
Wariya Yamprayoonswat, Satapanawat Sittihan, Watthanachai Jumpathong, Montri Yasawong
Microbiol Resour Announc. 2019 Apr; 8(17): e00204-19. Published online 2019 Apr 25. doi: 10.1128/MRA.00204-19
PMCID:
PMC6486246
AbstractArticlePDF–110K
15.
The Population-Based Prevalence of Achondroplasia and Thanatophoric Dysplasia in Selected Regions of the US
D.K. Waller, A. Correa, Tuan M. Vo, Y. Wang, C. Hobbs, P.H. Langlois, K. Pearson, P.A. Romitti, G.M. Shaw, J.T. Hecht
Am J Med Genet A. Author manuscript; available in PMC 2018 Jul 6.
Published in final edited form as: Am J Med Genet A. 2008 Sep 15; 146A(18): 2385–2389. doi: 10.1002/ajmg.a.32485
PMCID:
PMC6034636
AbstractArticlePDF–60K
16.
Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies
Michaela Kunova Bosakova, Miroslav Varecha, Marek Hampl, Ivan Duran, Alexandru Nita, Marcela Buchtova, Hana Dosedelova, Radek Machat, Yangli Xie, Zhenhong Ni, Jorge H Martin, Lin Chen, Gert Jansen, Deborah Krakow, Pavel Krejci
Hum Mol Genet. 2018 Mar 15; 27(6): 1093–1105. Published online 2018 Jan 17. doi: 10.1093/hmg/ddy031
PMCID:
PMC5886260
AbstractArticlePDF–2.6M
17.
Thanatophoric dysplasia: case report of an autopsy complemented by postmortem computed tomographic study
Éber Emanuel Mayoral, Regina Schultz, Sérgio Rosemberg, Lisa Suzuki, Luiz Antonio Nunes de Oliveira, Fernando Uliana Kay
Autops Case Rep. 2014 Apr-Jun; 4(2): 35–41. Published online 2014 Jun 30. doi: 10.4322/acr.2014.019
PMCID:
PMC5448300
AbstractArticlePDF–2.6M
18.
Thanatophoric Dysplasia: A Case Report
Manisha Sharma, Jyoti, Rekha Jain, Devendra
J Clin Diagn Res. 2015 Nov; 9(11): QD01–QD03. Published online 2015 Nov 1. doi: 10.7860/JCDR/2015/13201.6702
PMCID:
PMC4668482
AbstractArticlePDF–741K
19.
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach
Lyn S Chitty, Sarah Mason, Angela N Barrett, Fiona McKay, Nicholas Lench, Rebecca Daley, Lucy A Jenkins
Prenat Diagn. 2015 Jul; 35(7): 656–662. Published online 2015 May 26. doi: 10.1002/pd.4583
PMCID:
PMC4657458
AbstractArticlePDF–213K
20.
Draft Genome Sequence of Turicella otitidis TD1, Isolated from a Patient with Bacteremia
Alexander L. Greninger, Varvara Kozyreva, Chau-Linda Truong, Margot Graves, Vishnu Chaturvedi
Genome Announc. 2015 Sep-Oct; 3(5): e01060-15. Published online 2015 Sep 17. doi: 10.1128/genomeA.01060-15
PMCID:
PMC4574374
AbstractArticlePDF–159K

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