162 related articles for article (PubMed ID: 30226972)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G (p.Ter807Gly) (X807G) mutation in FGFR3.
Chen SW; Chen CP; Wang LK; Chern SR; Wu PC; Chen YN; Lin CJ; Chen WL; Wang W
Taiwan J Obstet Gynecol; 2017 Feb; 56(1):87-92. PubMed ID: 28254233
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I.
Itoh K; Pooh R; Kanemura Y; Yamasaki M; Fushiki S
Neuropathology; 2013 Dec; 33(6):663-6. PubMed ID: 23551494
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. 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]
14. [Thanatophoric dysplasia: three patients hospitalized in PAIP in 1994-2000].
Kruczek A; Kruczek P; Mitkowska Z; Pietrzyk JJ
Przegl Lek; 2002; 59 Suppl 1():137-9. PubMed ID: 12108063
[TBL] [Abstract][Full Text] [Related]
15. Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results.
Sawai H; Komori S; Ida A; Henmi T; Bessho T; Koyama K
Prenat Diagn; 1999 Jan; 19(1):21-4. PubMed ID: 10073901
[TBL] [Abstract][Full Text] [Related]
16. An R248C mutation of FGFR3 leading to thanatophoric dysplasia type I.
Tsai FJ; Tsai LP; Lin SP; Tsai CH; Peng CT; Wang TR; Lee CC; Wu JY
Acta Paediatr Taiwan; 1999; 40(4):262-4. PubMed ID: 10910625
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]