162 related articles for article (PubMed ID: 30226972)
21. Thanatophoric dysplasia: a case report.
Jagun OE; Olusola-Bello MA; Adekanmbi AF; Jagun OO; Oduwole T
Pan Afr Med J; 2020; 37():220. PubMed ID: 33520059
[TBL] [Abstract][Full Text] [Related]
22. Thanatophoric dysplasia type 1 with temporal lobe dysplasia: Report of a case along with differential diagnosis.
Mondal A; Mandal B; Das RN; Chatterjee U; Mukherjee S
Indian J Pathol Microbiol; 2021; 64(4):776-779. PubMed ID: 34673602
[TBL] [Abstract][Full Text] [Related]
23. Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia.
Chen CP; Chern SR; Shih JC; Wang W; Yeh LF; Chang TY; Tzen CY
Prenat Diagn; 2001 Feb; 21(2):89-95. PubMed ID: 11241532
[TBL] [Abstract][Full Text] [Related]
24. FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association?
Prontera P; Sensi A; Pilu G; Baldi M; Baffico M; Bonasoni R; Calzolari E
Genet Couns; 2006; 17(4):407-12. PubMed ID: 17375526
[TBL] [Abstract][Full Text] [Related]
25. [Thanatoforic dysplasia--case report].
Pietryga M; Iciek R; Brazert M; Wender-Ozegowska E; Brazert J
Ginekol Pol; 2010 Jan; 81(1):55-60. PubMed ID: 20232701
[TBL] [Abstract][Full Text] [Related]
26. A case of thanatophoric dysplasia type 2: a novel mutation.
Gülaşı S; Atıcı A; Çelik Y
J Clin Res Pediatr Endocrinol; 2015 Mar; 7(1):73-6. PubMed ID: 25800480
[TBL] [Abstract][Full Text] [Related]
27. Thanatophoric dysplasia type 1 with cloverleaf skull in a dichorionic twin.
Salinas-Torres VM
Genet Couns; 2015; 26(1):61-5. PubMed ID: 26043509
[TBL] [Abstract][Full Text] [Related]
28. Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.
Hyland VJ; Robertson SP; Flanagan S; Savarirayan R; Roscioli T; Masel J; Hayes M; Glass IA
Am J Med Genet A; 2003 Jul; 120A(2):157-68. PubMed ID: 12833394
[TBL] [Abstract][Full Text] [Related]
29. Thanatophoric dysplasia type I.
Chang TK; Wang Y; Liu AM; Tung JC
Acta Paediatr Taiwan; 2001; 42(1):39-41. PubMed ID: 11270184
[TBL] [Abstract][Full Text] [Related]
30. Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders.
Terasawa S; Kato A; Nishizawa H; Kato T; Yoshizawa H; Noda Y; Miyazaki J; Ito M; Sekiya T; Fujii T; Kurahashi H
Congenit Anom (Kyoto); 2019 Jan; 59(1):4-10. PubMed ID: 29542187
[TBL] [Abstract][Full Text] [Related]
31. Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (FGFR3) gene that causes type I Thanatophoric dysplasia.
Simsek M; Al-Gazali L; Al-Mjeni R; Bayoumi R
Clin Biochem; 2003 Mar; 36(2):151-3. PubMed ID: 12633765
[No Abstract] [Full Text] [Related]
32. Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis.
Pazzaglia UE; Donzelli CM; Izzi C; Baldi M; Di Gaetano G; Bondioni M
Skeletal Radiol; 2014 Sep; 43(9):1205-15. PubMed ID: 24859745
[TBL] [Abstract][Full Text] [Related]
33. Second trimester molecular diagnosis of a stop codon FGFR3 mutation in a type I thanatophoric dysplasia fetus following abnormal ultrasound findings.
Chen CP; Chern SR; Chang TY; Lin CJ; Wang W; Tzen CY
Prenat Diagn; 2002 Aug; 22(8):736-7. PubMed ID: 12210587
[No Abstract] [Full Text] [Related]
34. Long-term survival in typical thanatophoric dysplasia type 1.
Baker KM; Olson DS; Harding CO; Pauli RM
Am J Med Genet; 1997 Jun; 70(4):427-36. PubMed ID: 9182787
[TBL] [Abstract][Full Text] [Related]
35. Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis.
Tsutsumi S; Sawai H; Nishimura G; Hayasaka K; Kurachi H
Fetal Diagn Ther; 2008; 24(4):420-4. PubMed ID: 18987480
[TBL] [Abstract][Full Text] [Related]
36. Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization.
Del Piccolo N; Placone J; Hristova K
Biophys J; 2015 Jan; 108(2):272-8. PubMed ID: 25606676
[TBL] [Abstract][Full Text] [Related]
37. G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.
Katsumata N; Kuno T; Miyazaki S; Mikami S; Nagashima-Miyokawa A; Nimura A; Horikawa R; Tanaka T
Endocr J; 1998 Apr; 45 Suppl():S171-4. PubMed ID: 9790257
[TBL] [Abstract][Full Text] [Related]
38. Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis.
Giancotti A; Castori M; Spagnuolo A; Binni F; D'Ambrosio V; Pasquali G; Pizzuti A; Grammatico P
Am J Med Genet A; 2011 Jul; 155A(7):1756-8. PubMed ID: 21671381
[No Abstract] [Full Text] [Related]
39. Three-dimensional and four-dimensional HDlive-rendered images of thanatophoric dysplasia.
Inubashiri E; Kuroki K; Maeda N; Kawai K; Akutagawa N; Sugawara M; Imai S; Minami K; Nomura Y
J Med Ultrason (2001); 2015 Apr; 42(2):281-5. PubMed ID: 26576586
[TBL] [Abstract][Full Text] [Related]
40. A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene.
Noe EJ; Yoo HW; Kim KN; Lee SY
Korean J Pediatr; 2010 Dec; 53(12):1022-5. PubMed ID: 21253318
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
