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Items: 1 to 20 of 31

1.

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
2.
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. doi: 10.3109/15513811003796938.

PMID:
20704477
4.

Thanatophoric Dysplasia.

Karczeski B, Cutting GR.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2004 May 21 [updated 2013 Sep 12].

5.

Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature.

Geneviève D, Le Merrer M, Feingold J, Munnich A, Maroteaux P, Cormier-Daire V.

Am J Med Genet A. 2008 Apr 15;146A(8):992-6. doi: 10.1002/ajmg.a.32191. Review.

PMID:
18348257
6.

Thanatophoric dysplasia: a case report and review of literature.

Indu PS, Poothiode U, Augustine J, Pillai SB.

Indian J Pathol Microbiol. 2007 Jul;50(3):589-92. Review.

PMID:
17883148
7.

Prenatal diagnosis of chondrodysplasia punctata tibia-metacarpal type using multidetector CT and three-dimensional reconstruction.

Miyazaki O, Nishimura G, Sago H, Watanabe N, Ebina S.

Pediatr Radiol. 2007 Nov;37(11):1151-4. Epub 2007 Sep 6.

PMID:
17805524
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.

PMID:
17048442
9.

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. Epub 2002 Oct 29.

PMID:
14605823
10.

Recessive omodysplasia: five new cases and review of the literature.

Elçioglu NH, Gustavson KH, Wilkie AO, Yüksel-Apak M, Spranger JW.

Pediatr Radiol. 2004 Jan;34(1):75-82. Epub 2003 Oct 18. Review.

PMID:
14566439
11.
12.

Thanatophoric dysplasia type I.

Chang TK, Wang Y, Liu AM, Tung JC.

Acta Paediatr Taiwan. 2001 Jan-Feb;42(1):39-41.

PMID:
11270184
13.

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.

PMID:
11241532
14.

[Lethal osteochondrodysplasias: prenatal and postnatal differential diagnosis].

Sauer I, Klein B, Leeners B, Cotarelo C, Heyl W, Funk A.

Ultraschall Med. 2000 Jun;21(3):112-21. German.

PMID:
10929597
15.

Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update.

Lemyre E, Azouz EM, Teebi AS, Glanc P, Chen MF.

Can Assoc Radiol J. 1999 Jun;50(3):185-97. Review.

PMID:
10405653
16.

A new lethal autosomal recessive skeletal dysplasia with associated dysmorphic features.

Morton JE, Kilby MD, Rushton I.

Clin Dysmorphol. 1998 Apr;7(2):109-14.

PMID:
9571280
17.

First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia.

den Hollander NS, van der Harten HJ, Vermeij-Keers C, Niermeijer MF, Wladimiroff JW.

Am J Med Genet. 1997 Dec 19;73(3):345-50.

PMID:
9415697
18.

New form of platyspondylic lethal chondrodysplasia.

Akaba K, Nishimura G, Hashimoto M, Wakabayashi T, Kanasugi H, Hayasaka K.

Am J Med Genet. 1996 Dec 30;66(4):464-7.

PMID:
8989469
19.

Second trimester diagnosis of thanatophoric dysplasia.

Guu WS, Hsu TT, Chang SY, Chang JC, Huang CC.

Changgeng Yi Xue Za Zhi. 1996 Sep;19(3):258-63.

PMID:
8921645
20.

A new lethal chondrodysplasia with platyspondyly, long bone angulation and mixed bone density.

Seller MJ, Berry AC, Maxwell D, McLennan A, Hall CM.

Clin Dysmorphol. 1996 Jul;5(3):213-5.

PMID:
8818449

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