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Items: 1 to 20 of 86

1.

New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma.

Chitty LS, Griffin DR, Meaney C, Barrett A, Khalil A, Pajkrt E, Cole TJ.

Ultrasound Obstet Gynecol. 2011 Mar;37(3):283-9. doi: 10.1002/uog.8893. Epub 2011 Feb 1.

2.

Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasma.

Lim JH, Kim MJ, Kim SY, Kim HO, Song MJ, Kim MH, Park SY, Yang JH, Ryu HM.

J Assist Reprod Genet. 2011 Feb;28(2):167-72. doi: 10.1007/s10815-010-9489-1. Epub 2010 Oct 21.

3.

Laminectomy in patients with achondroplasia: the impact of time to surgery on long-term function.

Carlisle ES, Ting BL, Abdullah MA, Skolasky RL, Schkrohowsky JG, Yost MT, Rigamonti D, Ain MC.

Spine (Phila Pa 1976). 2011 May 15;36(11):886-92. doi: 10.1097/BRS.0b013e3181e7cb2a.

PMID:
20739914
4.

Achondroplasia: pathogenesis and implications for future treatment.

Laederich MB, Horton WA.

Curr Opin Pediatr. 2010 Aug;22(4):516-23. doi: 10.1097/MOP.0b013e32833b7a69. Review.

PMID:
20601886
5.

Achondroplasia.

Pauli RM.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
1998 Oct 12 [updated 2012 Feb 16].

6.

Developmental milestones in infants and young Australasian children with achondroplasia.

Ireland PJ, Johnson S, Donaghey S, Johnston L, McGill J, Zankl A, Ware RS, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S.

J Dev Behav Pediatr. 2010 Jan;31(1):41-7. doi: 10.1097/DBP.0b013e3181c72052.

PMID:
20081435
7.

Chronically elevated plasma C-type natriuretic peptide level stimulates skeletal growth in transgenic mice.

Kake T, Kitamura H, Adachi Y, Yoshioka T, Watanabe T, Matsushita H, Fujii T, Kondo E, Tachibe T, Kawase Y, Jishage K, Yasoda A, Mukoyama M, Nakao K.

Am J Physiol Endocrinol Metab. 2009 Dec;297(6):E1339-48. doi: 10.1152/ajpendo.00272.2009. Epub 2009 Oct 6.

8.

FGFs in endochondral skeletal development.

Horton WA, Degnin CR.

Trends Endocrinol Metab. 2009 Sep;20(7):341-8. doi: 10.1016/j.tem.2009.04.003. Epub 2009 Aug 27. Review.

PMID:
19716710
9.

Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations.

Alatzoglou KS, Hindmarsh PC, Brain C, Torpiano J, Dattani MT.

J Clin Endocrinol Metab. 2009 Oct;94(10):3959-63. doi: 10.1210/jc.2009-0322. Epub 2009 Jul 21.

PMID:
19622626
10.

Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal.

Almeida MR, Campos-Xavier AB, Medeira A, Cordeiro I, Sousa AB, Lima M, Soares G, Rocha M, Saraiva J, Ramos L, Sousa S, Marcelino JP, Correia A, Santos HG.

Clin Genet. 2009 Feb;75(2):150-6. doi: 10.1111/j.1399-0004.2008.01123.x.

PMID:
19215249
11.

Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs.

Natacci F, Baffico M, Cavallari U, Bedeschi MF, Mura I, Paffoni A, Setti PL, Baldi M, Lalatta F.

Am J Med Genet A. 2008 Mar 15;146A(6):784-6. doi: 10.1002/ajmg.a.32228.

PMID:
18266238
12.

Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.

Zankl A, Elakis G, Susman RD, Inglis G, Gardener G, Buckley MF, Roscioli T.

Am J Med Genet A. 2008 Jan 15;146A(2):212-8.

PMID:
18076102
13.

Mortality in achondroplasia study: a 42-year follow-up.

Wynn J, King TM, Gambello MJ, Waller DK, Hecht JT.

Am J Med Genet A. 2007 Nov 1;143A(21):2502-11.

PMID:
17879967
14.

Weight for age charts for children with achondroplasia.

Hoover-Fong JE, McGready J, Schulze KJ, Barnes H, Scott CI.

Am J Med Genet A. 2007 Oct 1;143A(19):2227-35.

PMID:
17764078
15.

Dynamic lower extremity alignment in children with achondroplasia.

Inan M, Thacker M, Church C, Miller F, Mackenzie WG, Conklin D.

J Pediatr Orthop. 2006 Jul-Aug;26(4):526-9.

PMID:
16791073
16.

Cervicomedullary decompression for foramen magnum stenosis in achondroplasia.

Bagley CA, Pindrik JA, Bookland MJ, Camara-Quintana JQ, Carson BS.

J Neurosurg. 2006 Mar;104(3 Suppl):166-72.

PMID:
16572633
17.

Constitutive activation of MKK6 in chondrocytes of transgenic mice inhibits proliferation and delays endochondral bone formation.

Zhang R, Murakami S, Coustry F, Wang Y, de Crombrugghe B.

Proc Natl Acad Sci U S A. 2006 Jan 10;103(2):365-70. Epub 2005 Dec 30.

18.

Health supervision for children with achondroplasia.

Trotter TL, Hall JG; American Academy of Pediatrics Committee on Genetics..

Pediatrics. 2005 Sep;116(3):771-83. Erratum in: Pediatrics. 2005 Dec;116(6):1615.

PMID:
16140722
19.

FGF signaling in the developing endochondral skeleton.

Ornitz DM.

Cytokine Growth Factor Rev. 2005 Apr;16(2):205-13. Epub 2005 Apr 1. Review.

20.

Cellular signaling by fibroblast growth factor receptors.

Eswarakumar VP, Lax I, Schlessinger J.

Cytokine Growth Factor Rev. 2005 Apr;16(2):139-49. Epub 2005 Feb 1. Review.

PMID:
15863030

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