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Results: 12

Related Articles by Review for PubMed (Select 17375526)

1.

FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association?

Prontera P, Sensi A, Pilu G, Baldi M, Baffico M, Bonasoni R, Calzolari E.

Genet Couns. 2006;17(4):407-12.

PMID:
17375526
2.

The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis.

Hevner RF.

Acta Neuropathol. 2005 Sep;110(3):208-21. Review.

PMID:
16133544
4.

[From gene to disease; achondroplasia and other skeletal dysplasias due to an activating mutation in the fibroblast growth factor].

van Ravenswaaij-Arts CM, Losekoot M.

Ned Tijdschr Geneeskd. 2001 Jun 2;145(22):1056-9. Review. Dutch.

PMID:
11414167
5.

Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type.

Neumann L, Kunze J, Uhl M, Stöver B, Zabel B, Spranger J.

Pediatr Radiol. 2003 Nov;33(11):786-90. Epub 2003 Sep 5. Review.

PMID:
12961049
6.

Fibroblast growth factor receptor 3 and the human chondrodysplasias.

Horton WA.

Curr Opin Pediatr. 1997 Aug;9(4):437-42. Review.

PMID:
9300204
7.

Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia.

Martínez-Frías ML, de Frutos CA, Bermejo E, Nieto MA; ECEMC Working Group.

Am J Med Genet A. 2010 Jan;152A(1):245-55. doi: 10.1002/ajmg.a.33188. Review.

PMID:
20034074
8.

[Molecular basis of achondroplasia, hypochondroplasia, and thanatophoric dysplasia].

Moskalewski S, Hyc A, Osiecka-Iwan A, Strzelczyk P.

Chir Narzadow Ruchu Ortop Pol. 2000;65(3):327-33. Review. Polish.

PMID:
11057021
9.

FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature.

Blomberg M, Jeppesen EM, Skovby F, Benfeldt E.

Dermatology. 2010;220(4):297-305. doi: 10.1159/000297575. Epub 2010 May 4. Review.

PMID:
20453470
10.

Mouse models orthologous to FGFR3-related skeletal dysplasias.

Brodie SG, Deng CX.

Pediatr Pathol Mol Med. 2003 Jan-Feb;22(1):87-103. Review.

PMID:
12687892
11.

[Thanatophoric dysplasia].

Tonoki H.

Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):294-5. Review. Japanese. No abstract available.

PMID:
11057234
12.

Thanatophoric Dysplasia.

Karczeski B, Cutting GR.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2004 May 21 [updated 2013 Sep 12].

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