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Items: 1 to 20 of 24

1.

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
2.

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

Salinas-Torres VM.

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

PMID:
26043509
3.

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.

4.

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.

5.

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.

6.

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
7.

Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis.

Pazzaglia UE, Donzelli CM, Izzi C, Baldi M, Di Gaetano G, Bondioni M.

Skeletal Radiol. 2014 Sep;43(9):1205-15. doi: 10.1007/s00256-014-1899-1. Epub 2014 May 25.

PMID:
24859745
8.

Temporal lobe dysplasia: a characteristic sonographic finding in thanatophoric dysplasia.

Wang DC, Shannon P, Toi A, Chitayat D, Mohan U, Barkova E, Keating S, Tomlinson G, Glanc P.

Ultrasound Obstet Gynecol. 2014 Nov;44(5):588-94. doi: 10.1002/uog.13337. Epub 2014 Oct 13.

9.

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. doi: 10.1111/cga.12056.

PMID:
24517215
11.

The "old theme" of variability versus transitory phenotypes in thanatophoric dysplasia type 1: two 19-week-old fetuses with ("San Diego" variant) and without ragged metaphyses due to the same FGFR3 mutation.

Castori M, Morlino S, Radio FC, De Bernardo C, Grammatico P.

Am J Med Genet A. 2013 Oct;161A(10):2675-7. doi: 10.1002/ajmg.a.36131. Epub 2013 Aug 16. No abstract available.

PMID:
24038754
12.

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. doi: 10.1111/neup.12036. Epub 2013 Apr 1.

PMID:
23551494
13.

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. doi: 10.1002/pd.4066. Epub 2013 Feb 14.

14.

Thanatophoric dysplasia: autopsy findings over a 25-year period.

Vogt C, Blaas HG.

Pediatr Dev Pathol. 2013 May-Jun;16(3):160-7. doi: 10.2350/12-09-1253-OA.1. Epub 2013 Jan 16.

PMID:
23323754
15.

A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia.

Jin M, Yu Y, Qi H, Xie Y, Su N, Wang X, Tan Q, Luo F, Zhu Y, Wang Q, Du X, Xian CJ, Liu P, Huang H, Shen Y, Deng CX, Chen D, Chen L.

Hum Mol Genet. 2012 Dec 15;21(26):5443-55. doi: 10.1093/hmg/dds390. Epub 2012 Sep 26.

16.

Disruption of a Sox9-β-catenin circuit by mutant Fgfr3 in thanatophoric dysplasia type II.

Shung CY, Ota S, Zhou ZQ, Keene DR, Hurlin PJ.

Hum Mol Genet. 2012 Nov 1;21(21):4628-44. doi: 10.1093/hmg/dds305. Epub 2012 Jul 26.

17.

Microarray for skeletal dysplasias: thanatophoric dysplasia diagnosed in utero using microarray technology.

Guerra C, Rendeiro P, Pereira E, Rosmaninho A, Nogueira R, Pereira S, Tavares P.

Ultrasound Obstet Gynecol. 2013 Jan;41(1):95-6. doi: 10.1002/uog.11217. No abstract available.

18.

Diagnosis and counseling of thanatophoric dysplasia with four-dimensional ultrasound.

Vasilj O, Mišković B.

J Matern Fetal Neonatal Med. 2012 Dec;25(12):2786-8. doi: 10.3109/14767058.2012.704451. Epub 2012 Jul 11.

PMID:
22734441
19.

Thanatophoric dysplasia, type I.

Herman TE, Siegel MJ.

J Perinatol. 2012 Jun;32(6):476-8. doi: 10.1038/jp.2011.108. No abstract available.

PMID:
22643294
20.

Intermittent PTH (1-34) injection rescues the retarded skeletal development and postnatal lethality of mice mimicking human achondroplasia and thanatophoric dysplasia.

Xie Y, Su N, Jin M, Qi H, Yang J, Li C, Du X, Luo F, Chen B, Shen Y, Huang H, Xian CJ, Deng C, Chen L.

Hum Mol Genet. 2012 Sep 15;21(18):3941-55. doi: 10.1093/hmg/dds181. Epub 2012 May 24.

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