160 related articles for article (PubMed ID: 20949643)
1. First-trimester molecular prenatal diagnosis of a thanatophoric dysplasia.
Delahaye S; Rosenblatt J; Costa JM; Bazin A; Bénifla JL; Jouannic JM
Prenat Diagn; 2010 Dec; 30(12-13):1222-3. PubMed ID: 20949643
[No Abstract] [Full Text] [Related]
2. Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis.
Giancotti A; Castori M; Spagnuolo A; Binni F; D'Ambrosio V; Pasquali G; Pizzuti A; Grammatico P
Am J Med Genet A; 2011 Jul; 155A(7):1756-8. PubMed ID: 21671381
[No Abstract] [Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
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. 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]
11. 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]
12. 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]
13. 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]
14. Prenatal diagnosis of thanatophoric dysplasia in the second trimester: ultrasonography and other diagnostic modalities.
Sahinoglu Z; Uludogan M; Gurbuz A; Karateke A
Arch Gynecol Obstet; 2003 Nov; 269(1):57-61. PubMed ID: 14605823
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. The importance of early prenatal diagnosis of thanatophoric dysplasia with respect to obstetric management.
Loong EP
Eur J Obstet Gynecol Reprod Biol; 1987 Jun; 25(2):145-52. PubMed ID: 3301448
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Prenatal diagnosis and molecular analysis of type 1 thanatophoric dysplasia.
Li D; Liao C; Ma X
Int J Gynaecol Obstet; 2005 Dec; 91(3):268-70. PubMed ID: 16214145
[No Abstract] [Full Text] [Related]
[Next] [New Search]