210 related articles for article (PubMed ID: 18504386)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: early ultrasound markers of de novo thanatophoric dysplasia type II with cloverleaf skull (Kleeblattschaedel).
Tonni G; Palmisano M; Ginocchi V; Ventura A; Baldi M; Baffico AM
Congenit Anom (Kyoto); 2014 Nov; 54(4):228-32. PubMed ID: 24517215
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. 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]
19. 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]
20. [Prenatal diagnosis of thanatophoric dysplasia at 21st week of pregnancy].
Camera G; Dodero D; Camandona F; Camera A
Pathologica; 1993; 85(1096):215-9. PubMed ID: 8361784
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
