132 related articles for article (PubMed ID: 34673602)
41. 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]
42. A new prescription for growth? Statins, cholesterol and cartilage homeostasis.
Bush JR; Bérubé NG; Beier F
Osteoarthritis Cartilage; 2015 Apr; 23(4):503-6. PubMed ID: 25595698
[No Abstract] [Full Text] [Related]
43. Stippling: a first trimester marker for thanatophoric dysplasia type I.
Beuke L; Koduri P; Martinez F; Weiner S
Prenat Diagn; 2010 Dec; 30(12-13):1220-1. PubMed ID: 20954151
[No Abstract] [Full Text] [Related]
44. 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]
45. 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]
46. Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia.
Chen CP; Chang TY; Lin TW; Chern SR; Chen SW; Lai ST; Chuang TY; Wang W
Taiwan J Obstet Gynecol; 2018 Feb; 57(1):119-122. PubMed ID: 29458880
[TBL] [Abstract][Full Text] [Related]
47. Genotyping of the C742T mutation of the FGFR3 gene causing type 1 thanatophoric dysplasia by high-resolution melting analysis.
Liu YN; Li R; Li DZ
J Matern Fetal Neonatal Med; 2011 Jan; 24(1):186-8. PubMed ID: 20569165
[TBL] [Abstract][Full Text] [Related]
48. A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia.
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
Hum Mol Genet; 2012 Dec; 21(26):5443-55. PubMed ID: 23014564
[TBL] [Abstract][Full Text] [Related]
49. Temporal-lobe abnormalities in thanatophoric dysplasia.
Knisely AS; Ambler MW
Pediatr Neurosci; 1988; 14(4):169-76. PubMed ID: 3269536
[TBL] [Abstract][Full Text] [Related]
50. Medial temporal lobe dysgenesis in hypochondroplasia.
Kannu P; Hayes IM; Mandelstam S; Donnan L; Savarirayan R
Am J Med Genet A; 2005 Nov; 138(4):389-91. PubMed ID: 16222682
[TBL] [Abstract][Full Text] [Related]
51. FGFR3 gene mutations in Chinese cases of thanatophoric dysplasia type 1.
Yang Y; Li DZ
Fetal Diagn Ther; 2009; 26(2):90-2. PubMed ID: 19752524
[TBL] [Abstract][Full Text] [Related]
52. Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA.
Chitty LS; Khalil A; Barrett AN; Pajkrt E; Griffin DR; Cole TJ
Prenat Diagn; 2013 May; 33(5):416-23. PubMed ID: 23408600
[TBL] [Abstract][Full Text] [Related]
53. 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]
54. Thanatophoric dysplasia type 1 with tectal plate dysplasia and aqueductal stenosis.
Tan AP; Priego G
Childs Nerv Syst; 2019 Jun; 35(6):1059-1061. PubMed ID: 30610483
[TBL] [Abstract][Full Text] [Related]
55. Diagnosis of thanatophoric dysplasia using clinical exome screening.
Holub M; Sekowská M; Smetanová D; Koudová M; Sobolová K; Šinská A; Heřman H
Ceska Gynekol; 2023; 88(5):376-379. PubMed ID: 37932055
[TBL] [Abstract][Full Text] [Related]
56. FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met.
Farmakis SG; Shinawi M; Miller-Thomas M; Radmanesh A; Herman TE
Skeletal Radiol; 2015 Mar; 44(3):441-5. PubMed ID: 25119967
[TBL] [Abstract][Full Text] [Related]
57. 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]
58. [Thanatophoric dysplasia: report of 2 cases with neuropathological study].
Noronha L; Prevedello LM; Maggio EM; Serapiao MJ; Torres LF
Arq Neuropsiquiatr; 2002 Mar; 60(1):133-7. PubMed ID: 11965423
[TBL] [Abstract][Full Text] [Related]
59. Thanatophoric dysplasia type I associated with increased nuchal translucency in the first trimester: Early prenatal diagnosis using combined ultrasonography and molecular biology.
Tonni G; Azzoni D; Ventura A; Ferrari B; Felice CD; Baldi M
Fetal Pediatr Pathol; 2010; 29(5):314-22. PubMed ID: 20704477
[TBL] [Abstract][Full Text] [Related]
60. Histopathology of the temporal bones in thanatophoric dysplasia.
Sano M; Sakagami M; Harada T; Matsunaga T; Tominaga Y; Nakayama M
Med J Osaka Univ; 1991 Mar; 40(1-4):51-7. PubMed ID: 1369657
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]