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Items: 1 to 20 of 124

1.

Sonographic diagnosis of SEDC and double heterozygote of SEDC and achondroplasia--a report of six pregnancies.

Chitty LS, Tan AW, Nesbit DL, Hall CM, Rodeck CH.

Prenat Diagn. 2006 Sep;26(9):861-5.

PMID:
16874841
2.

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.

Unger S, Korkko J, Krakow D, Lachman RS, Rimoin DL, Cohn DH.

Am J Med Genet. 2001 Nov 22;104(2):140-6.

PMID:
11746045
3.

Molecular prenatal diagnosis in 2 pregnancies at risk for spondyloepiphyseal dysplasia congenita.

Xia XY, Cui YX, Huang YF, Pan LJ, Feng Y, Yang B, Li XJ, Zhu PY, Shi YC, Liang Q.

Clin Chim Acta. 2008 Jan;387(1-2):153-7. Epub 2007 Sep 18.

PMID:
17920052
4.

Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association.

Karadimas C, Trouvas D, Haritatos G, Makatsoris C, Dedoulis E, Velissariou V, Antoniadi T, Hatzaki A, Petersen MB.

Prenat Diagn. 2006 Mar;26(3):258-61.

PMID:
16475234
5.

Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay.

Cui YX, Xia XY, Bu Y, Zhou GH, Yang B, Lu HY, Shi YC, Pan LJ, Huang YF, Li XJ.

Genet Test. 2008 Dec;12(4):533-6. doi: 10.1089/gte.2008.0037.

PMID:
19072565
6.

Achondroplasia-hypochondroplasia complex in a newborn infant.

Huggins MJ, Smith JR, Chun K, Ray PN, Shah JK, Whelan DT.

Am J Med Genet. 1999 Jun 11;84(5):396-400.

PMID:
10360392
7.

Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.

Chitayat D, Fernandez B, Gardner A, Moore L, Glance P, Dunn M, Chun K, Sgro M, Ray P, Allingham-Hawkins D.

Am J Med Genet. 1999 Jun 11;84(5):401-5.

PMID:
10360393
8.

Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasia.

Mesoraca A, Pilu G, Perolo A, Novelli G, Salfi N, Lucchi A, Bovicelli L, Dallapiccola B.

Prenat Diagn. 1996 Aug;16(8):764-8.

PMID:
8878289
9.

A novel mutation in the COL2A1 gene in a Chinese family with Spondyloepiphyseal dysplasia congenita.

Li S, Zhou H, Qin H, Guo H, Bai Y.

Joint Bone Spine. 2014 Jan;81(1):86-9. doi: 10.1016/j.jbspin.2013.06.010. Epub 2013 Aug 9.

PMID:
23932928
10.

Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1.

Kawano O, Nakamura A, Morikawa S, Uetake K, Ishizu K, Tajima T.

Am J Med Genet A. 2015 Jul;167(7):1578-81. doi: 10.1002/ajmg.a.37073. Epub 2015 Apr 21.

PMID:
25900302
11.

Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus.

Huggins MJ, Mernagh JR, Steele L, Smith JR, Nowaczyk MJ.

Am J Med Genet. 1999 Nov 26;87(3):226-9.

PMID:
10564875
12.

Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita.

Zhang Z, He JW, Fu WZ, Zhang CQ, Zhang ZL.

Biochem Biophys Res Commun. 2011 Oct 7;413(4):504-8. doi: 10.1016/j.bbrc.2011.08.090. Epub 2011 Sep 6.

PMID:
21924244
13.

[Rapid genetic prenatal diagnosis for achondroplasia].

Zhu HY, Yang Y, Li J, Ru T, Hu YL.

Zhonghua Fu Chan Ke Za Zhi. 2008 Nov;43(11):810-3. Chinese.

PMID:
19087561
14.

Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap.

Barton C, Sweeney E, Roberts D, McPartland J.

Clin Dysmorphol. 2010 Jul;19(3):146-9. doi: 10.1097/MCD.0b013e328337586b. No abstract available.

PMID:
20357663
15.

A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis.

Donahue LR, Chang B, Mohan S, Miyakoshi N, Wergedal JE, Baylink DJ, Hawes NL, Rosen CJ, Ward-Bailey P, Zheng QY, Bronson RT, Johnson KR, Davisson MT.

J Bone Miner Res. 2003 Sep;18(9):1612-21. Erratum in: J Bone Miner Res. 2007 Dec;22(12):2011.

16.

Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita.

Huang X, Deng X, Xu H, Wu S, Yuan L, Yang Z, Yang Y, Deng H.

PLoS One. 2015 Jun 1;10(6):e0127529. doi: 10.1371/journal.pone.0127529. eCollection 2015.

17.

Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.

Bonaventure J, Rousseau F, Legeai-Mallet L, Le Merrer M, Munnich A, Maroteaux P.

Am J Med Genet. 1996 May 3;63(1):148-54.

PMID:
8723101
18.

First trimester increased nuchal translucency associated with fetal achondroplasia.

Tonni G, Ventura A, De Felice C.

Am J Perinatol. 2005 Apr;22(3):145-8.

PMID:
15838748
19.

Genotype phenotype correlation in achondroplasia and hypochondroplasia.

Matsui Y, Yasui N, Kimura T, Tsumaki N, Kawabata H, Ochi T.

J Bone Joint Surg Br. 1998 Nov;80(6):1052-6.

20.

Structural variations in articular cartilage matrix are associated with early-onset osteoarthritis in the spondyloepiphyseal dysplasia congenita (sedc) mouse.

Macdonald DW, Squires RS, Avery SA, Adams J, Baker M, Cunningham CR, Heimann NB, Kooyman DL, Seegmiller RE.

Int J Mol Sci. 2013 Aug 9;14(8):16515-31. doi: 10.3390/ijms140816515.

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