168 related articles for article (PubMed ID: 20569165)
21. 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]
22. Reduced binding of FGF1 to mutant fibroblast growth factor receptor 3.
Khnykin D; Olsnes S
Growth Factors; 2006 Jun; 24(2):111-9. PubMed ID: 16801131
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis.
Hevner RF
Acta Neuropathol; 2005 Sep; 110(3):208-21. PubMed ID: 16133544
[TBL] [Abstract][Full Text] [Related]
25. Thanatophoric dysplasia: roentgenographic findings and detection of a de novo mutation of FGFR3 gene in a Thai patient.
Wattanasirichaigoon D; Charoenpipop D
J Med Assoc Thai; 2006 Aug; 89(8):1287-92. PubMed ID: 17048442
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation.
De Biasio P; Prefumo F; Baffico M; Baldi M; Priolo M; Lerone M; Tomà P; Venturini PL
Prenat Diagn; 2000 Oct; 20(10):835-7. PubMed ID: 11038465
[TBL] [Abstract][Full Text] [Related]
28. Noninvasive prenatal test for FGFR3-related skeletal dysplasia based on next-generation sequencing and plasma cell-free DNA: Test performance analysis and feasibility exploration.
Ren Y; Zhao J; Li R; Xie Y; Jiang S; Zhou H; Liu H; You Y; Chen F; Wang W; Gao Y; Meng Y; Lu Y
Prenat Diagn; 2018 Oct; 38(11):821-828. PubMed ID: 30048571
[TBL] [Abstract][Full Text] [Related]
29. Chylous Ascites in an Infant with Thanatophoric Dysplasia Type I with FGFR3 Mutation Surviving Five Months.
Soo-Kyeong J; Lee N; Bae MH; Han YM; Hee Park K; Byun SY
Fetal Pediatr Pathol; 2018 Oct; 37(5):363-371. PubMed ID: 30252581
[TBL] [Abstract][Full Text] [Related]
30. Parathyroid hormone receptor type 1/Indian hedgehog expression is preserved in the growth plate of human fetuses affected with fibroblast growth factor receptor type 3 activating mutations.
Cormier S; Delezoide AL; Benoist-Lasselin C; Legeai-Mallet L; Bonaventure J; Silve C
Am J Pathol; 2002 Oct; 161(4):1325-35. PubMed ID: 12368206
[TBL] [Abstract][Full Text] [Related]
31. Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.
Rousseau F; Saugier P; Le Merrer M; Munnich A; Delezoide AL; Maroteaux P; Bonaventure J; Narcy F; Sanak M
Nat Genet; 1995 May; 10(1):11-2. PubMed ID: 7647778
[No Abstract] [Full Text] [Related]
32. 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]
33. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
Tavormina PL; Shiang R; Thompson LM; Zhu YZ; Wilkin DJ; Lachman RS; Wilcox WR; Rimoin DL; Cohn DH; Wasmuth JJ
Nat Genet; 1995 Mar; 9(3):321-8. PubMed ID: 7773297
[TBL] [Abstract][Full Text] [Related]
34. Constitutive activation of fibroblast growth factor receptor 3 by mutations responsible for the lethal skeletal dysplasia thanatophoric dysplasia type I.
d'Avis PY; Robertson SC; Meyer AN; Bardwell WM; Webster MK; Donoghue DJ
Cell Growth Differ; 1998 Jan; 9(1):71-8. PubMed ID: 9438390
[TBL] [Abstract][Full Text] [Related]
35. Thanatophoric dysplasia type I with syndactyly.
Brodie SG; Kitoh H; Lipson M; Sifry-Platt M; Wilcox WR
Am J Med Genet; 1998 Nov; 80(3):260-2. PubMed ID: 9843049
[TBL] [Abstract][Full Text] [Related]
36. The "old theme" of variability versus transitory phenotypes in thanatophoric dysplasia type 1: two 19-week-old fetuses with ("San Diego" variant) and without ragged metaphyses due to the same FGFR3 mutation.
Castori M; Morlino S; Radio FC; De Bernardo C; Grammatico P
Am J Med Genet A; 2013 Oct; 161A(10):2675-7. PubMed ID: 24038754
[No Abstract] [Full Text] [Related]
37. 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.
Chen CP; Chang TY; Lin MH; Chern SR; Su JW; Wang W
Taiwan J Obstet Gynecol; 2013 Sep; 52(3):420-5. PubMed ID: 24075385
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Second-trimester molecular diagnosis of a heterozygous 742 --> T (R248C) mutation in the FGFR3 gene in a thanatophoric dysplasia variant following suspicious ultrasound findings.
Chen CP; Chern SR; Wang W; Wang TY
Ultrasound Obstet Gynecol; 2001 Mar; 17(3):272-3. PubMed ID: 11309183
[No Abstract] [Full Text] [Related]
40. [Rapid genetic prenatal diagnosis for achondroplasia].
Zhu HY; Yang Y; Li J; Ru T; Hu YL
Zhonghua Fu Chan Ke Za Zhi; 2008 Nov; 43(11):810-3. PubMed ID: 19087561
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
