132 related articles for article (PubMed ID: 34673602)
1. Thanatophoric dysplasia type 1 with temporal lobe dysplasia: Report of a case along with differential diagnosis.
Mondal A; Mandal B; Das RN; Chatterjee U; Mukherjee S
Indian J Pathol Microbiol; 2021; 64(4):776-779. PubMed ID: 34673602
[TBL] [Abstract][Full Text] [Related]
2. 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]
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. 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]
5. Temporal and occipital lobe features in children with hypochondroplasia/FGFR3 gene mutation.
Philpott CM; Widjaja E; Raybaud C; Branson HM; Kannu P; Blaser S
Pediatr Radiol; 2013 Sep; 43(9):1190-5. PubMed ID: 23649205
[TBL] [Abstract][Full Text] [Related]
6. Thanatophoric dysplasia type 1 with cloverleaf skull in a dichorionic twin.
Salinas-Torres VM
Genet Couns; 2015; 26(1):61-5. PubMed ID: 26043509
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
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. Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis.
Martínez-Frías ML; Egüés X; Puras A; Hualde J; de Frutos CA; Bermejo E; Nieto MA; Martínez S
Am J Med Genet A; 2011 Jan; 155A(1):197-202. PubMed ID: 21204232
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Thanatophoric dysplasia type I.
Chang TK; Wang Y; Liu AM; Tung JC
Acta Paediatr Taiwan; 2001; 42(1):39-41. PubMed ID: 11270184
[TBL] [Abstract][Full Text] [Related]
16. Statin treatment rescues FGFR3 skeletal dysplasia phenotypes.
Yamashita A; Morioka M; Kishi H; Kimura T; Yahara Y; Okada M; Fujita K; Sawai H; Ikegawa S; Tsumaki N
Nature; 2014 Sep; 513(7519):507-11. PubMed ID: 25231866
[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. 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]
19. 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]
20. 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]
[Next] [New Search]
