171 related articles for article (PubMed ID: 24859745)
1. 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]
2. Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation.
Jung M; Park SH
Exp Mol Pathol; 2017 Apr; 102(2):290-295. PubMed ID: 28249712
[TBL] [Abstract][Full Text] [Related]
3. Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis.
Bondioni MP; Pazzaglia UE; Izzi C; Di Gaetano G; Laffranchi F; Baldi M; Prefumo F
Radiol Med; 2017 Nov; 122(11):880-891. PubMed ID: 28674909
[TBL] [Abstract][Full Text] [Related]
4. Rapid detection of common mutations of the FGFR3 gene causing thanatophoric dysplasia type I: two case reports.
Yang Y; Liu YN; Li DZ
Fetal Pediatr Pathol; 2012 Jun; 31(3):128-33. PubMed ID: 22414243
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3.
Nerlich AG; Freisinger P; Bonaventure J
Am J Med Genet; 1996 May; 63(1):155-60. PubMed ID: 8723102
[TBL] [Abstract][Full Text] [Related]
9. A case of thanatophoric dysplasia: the early prenatal 2D and 3D sonographic findings and molecular confirmation of diagnosis.
Wong HS; Kidd A; Zuccollo J; Tuohy J; Strand L; Tait J; Pringle KC
Fetal Diagn Ther; 2008; 24(1):71-3. PubMed ID: 18504386
[TBL] [Abstract][Full Text] [Related]
10. A THANATOPHORIC DYSPLASIA TYPE I CASE WITH A FGFR3 P.R248C MUTATION AND SURVIVAL BEYOND THE NEONATAL PERIOD.
Sahin S; Ograg H; Aslan EA; Akcan AB; Turkmen MK; Moosa S; Elcioglu NH
Genet Couns; 2016; 27(4):513-517. PubMed ID: 30226972
[TBL] [Abstract][Full Text] [Related]
11. Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1.
Lindy AS; Basehore MJ; Munisha M; Williams AL; Friez MJ; Writzl K; Willems P; Dougan ST
Am J Med Genet A; 2016 Jun; 170(6):1573-9. PubMed ID: 27028100
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1.
Zhen L; Pan M; Han J; Yang X; Liao C; Li DZ
J Obstet Gynaecol; 2015; 35(7):685-7. PubMed ID: 25671245
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update.
Lemyre E; Azouz EM; Teebi AS; Glanc P; Chen MF
Can Assoc Radiol J; 1999 Jun; 50(3):185-97. PubMed ID: 10405653
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Clinical features and molecular genetic analysis of thanatophoric dysplasia type I in a neonate with a de novo c.2419 T > C (p. Ter807Arg) (X807R) mutation in FGFR3.
Jiang G; Chen X; Dai D; Cao L; Qian L
Exp Mol Pathol; 2019 Dec; 111():104297. PubMed ID: 31476288
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]