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Items: 1 to 20 of 23

1.

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. doi: 10.1016/j.tjog.2017.12.020. Review.

2.

Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies.

Kunova Bosakova M, Varecha M, Hampl M, Duran I, Nita A, Buchtova M, Dosedelova H, Machat R, Xie Y, Ni Z, Martin JH, Chen L, Jansen G, Krakow D, Krejci P.

Hum Mol Genet. 2018 Mar 15;27(6):1093-1105. doi: 10.1093/hmg/ddy031.

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. doi: 10.1007/s11547-017-0784-0. Epub 2017 Jul 3.

PMID:
28674909
4.
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. doi: 10.1016/j.tjog.2016.12.013.

6.

Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation.

Jung M, Park SH.

Exp Mol Pathol. 2017 Apr;102(2):290-295. doi: 10.1016/j.yexmp.2017.02.019. Epub 2017 Feb 27.

7.

Ultrasound diagnosis of fetal thanatophoric skeletal dysplasia: Three cases report and a brief review.

Zhao QH, Shi H, Hu JQ, Wang D, Fang G, Zhang YG, Wang YQ, Yang J.

J Huazhong Univ Sci Technolog Med Sci. 2017 Feb;37(1):148-152. doi: 10.1007/s11596-017-1708-x. Epub 2017 Feb 22. Review.

PMID:
28224438
8.

Pathophysiological analyses of periventricular nodular heterotopia using gyrencephalic mammals.

Matsumoto N, Hoshiba Y, Morita K, Uda N, Hirota M, Minamikawa M, Ebisu H, Shinmyo Y, Kawasaki H.

Hum Mol Genet. 2017 Mar 15;26(6):1173-1181. doi: 10.1093/hmg/ddx038.

PMID:
28158406
9.

HDAC6 deficiency or inhibition blocks FGFR3 accumulation and improves bone growth in a model of achondroplasia.

Ota S, Zhou ZQ, Romero MP, Yang G, Hurlin PJ.

Hum Mol Genet. 2016 Oct 1;25(19):4227-4243. doi: 10.1093/hmg/ddw255. Epub 2016 Aug 9. Erratum in: Hum Mol Genet. 2017 Sep 15;26(18):3651.

PMID:
27506979
10.

Thanatophoric dysplasia: A review.

Wainwright H.

S Afr Med J. 2016 May 25;106(6 Suppl 1):S50-3. doi: 10.7196/SAMJ.2016.v106i6.10993. Review.

PMID:
27245526
11.

Protein-losing enteropathy with intestinal lymphangiectasia in skeletal dysplasia with Lys650Met mutation.

Yang C, Dehner LP.

Am J Med Genet A. 2016 Nov;170(11):2993-2997. doi: 10.1002/ajmg.a.37756. Epub 2016 May 23.

PMID:
27214123
12.

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. doi: 10.1002/ajmg.a.37609. Epub 2016 Mar 30.

PMID:
27028100
13.

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.

PMID:
30226972
14.

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. doi: 10.1007/s10396-014-0597-x. Epub 2014 Nov 22.

PMID:
26576586
15.

Thanatophoric dysplasia type 1 with cloverleaf skull in a dichorionic twin.

Salinas-Torres VM.

Genet Couns. 2015;26(1):61-5.

PMID:
26043509
16.

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. doi: 10.4274/jcrpe.1703.

17.

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.

Chitty LS, Mason S, Barrett AN, McKay F, Lench N, Daley R, Jenkins LA.

Prenat Diagn. 2015 Jul;35(7):656-62. doi: 10.1002/pd.4583. Epub 2015 May 26.

18.

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. doi: 10.3109/01443615.2015.1006593. Epub 2015 Feb 11.

PMID:
25671245
19.

Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization.

Del Piccolo N, Placone J, Hristova K.

Biophys J. 2015 Jan 20;108(2):272-8. doi: 10.1016/j.bpj.2014.11.3460.

20.

C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia.

Olney RC, Prickett TC, Espiner EA, Mackenzie WG, Duker AL, Ditro C, Zabel B, Hasegawa T, Kitoh H, Aylsworth AS, Bober MB.

J Clin Endocrinol Metab. 2015 Feb;100(2):E355-9. doi: 10.1210/jc.2014-2814. Epub 2014 Nov 11.

PMID:
25387261

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