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Items: 18

1.

ADAMTS proteins as modulators of microfibril formation and function.

Hubmacher D, Apte SS.

Matrix Biol. 2015 Sep;47:34-43. doi: 10.1016/j.matbio.2015.05.004. Epub 2015 May 7. Review.

2.

Geleophysic dysplasia: a novel in-frame deletion of a tandem repeat in the ADAMTSL2 gene.

García-Ortiz L, Gutiérrez-Salinas J, Del Carmen Chima Galán M, García RL, de la Concepción A Yerena M.

Am J Med Genet A. 2015 Aug;167A(8):1949-51. doi: 10.1002/ajmg.a.37106. Epub 2015 Apr 6. No abstract available.

PMID:
25850559
3.

Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia.

Wang Y, Zhang H, Ye J, Han L, Gu X.

J Hum Genet. 2014 Oct;59(10):563-7. doi: 10.1038/jhg.2014.73. Epub 2014 Aug 21.

PMID:
25142510
4.

Novel mutations in geleophysic dysplasia type 1.

Porayette P, Fruitman D, Lauzon JL, Le Goff C, Cormier-Daire V, Sanders SP, Pinto-Rojas A, Perez-Atayde AR.

Pediatr Dev Pathol. 2014 May-Jun;17(3):209-16. doi: 10.2350/13-08-1370-CR.1. Epub 2013 Nov 19.

PMID:
24251637
5.

Similarity of geleophysic dysplasia and Weill-Marchesani syndrome.

Kochhar A, Kirmani S, Cetta F, Younge B, Hyland JC, Michels V.

Am J Med Genet A. 2013 Dec;161A(12):3130-2. doi: 10.1002/ajmg.a.36147. Epub 2013 Sep 24.

PMID:
24214363
6.

Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family.

Elhoury ME, Faqeih E, Almoukirish AS, Galal MO.

Cardiol Young. 2015 Jan;25(1):81-6. doi: 10.1017/S1047951113001753. Epub 2013 Nov 6.

PMID:
24192049
7.

More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia.

Pimienta AL, Wilcox WR, Reinstein E.

Am J Med Genet A. 2013 Dec;161A(12):3126-9. doi: 10.1002/ajmg.a.36161. Epub 2013 Aug 16.

PMID:
24039088
8.

Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.

Ben-Salem S, Hertecant J, Al-Shamsi AM, Ali BR, Al-Gazali L.

Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):764-9. doi: 10.1002/bdra.23170. Epub 2013 Sep 6.

PMID:
24014090
9.

Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.

Cecchi A, Ogawa N, Martinez HR, Carlson A, Fan Y, Penny DJ, Guo DC, Eisenberg S, Safi H, Estrera A, Lewis RA, Meyers D, Milewicz DM.

Am J Med Genet A. 2013 Sep;161A(9):2305-10. doi: 10.1002/ajmg.a.36044. Epub 2013 Jul 29.

10.

Geleophysic dysplasia associated with bilateral angle closure glaucoma.

Saricaoglu MS, Güven D, Karakurt A, Hasiripi H.

Indian J Ophthalmol. 2013 Mar;61(3):122-4. doi: 10.4103/0301-4738.104401.

11.

A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1.

Lee T, Takeshima Y, Okizuka Y, Hamahira K, Kusunoki N, Awano H, Yagi M, Sakai N, Matsuo M, Iijima K.

Gene. 2013 Jan 10;512(2):456-9. doi: 10.1016/j.gene.2012.10.060. Epub 2012 Nov 2.

PMID:
23124041
12.

From tall to short: the role of TGFβ signaling in growth and its disorders.

Le Goff C, Cormier-Daire V.

Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):145-53. doi: 10.1002/ajmg.c.31337. Epub 2012 Jul 12. Review.

PMID:
22791552
13.

Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and function.

Hubmacher D, Apte SS.

Cell Mol Life Sci. 2011 Oct;68(19):3137-48. doi: 10.1007/s00018-011-0780-9. Epub 2011 Aug 20. Review.

14.

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.

Allali S, Le Goff C, Pressac-Diebold I, Pfennig G, Mahaut C, Dagoneau N, Alanay Y, Brady AF, Crow YJ, Devriendt K, Drouin-Garraud V, Flori E, Geneviève D, Hennekam RC, Hurst J, Krakow D, Le Merrer M, Lichtenbelt KD, Lynch SA, Lyonnet S, MacDermot K, Mansour S, Megarbané A, Santos HG, Splitt M, Superti-Furga A, Unger S, Williams D, Munnich A, Cormier-Daire V.

J Med Genet. 2011 Jun;48(6):417-21. doi: 10.1136/jmg.2010.087544. Epub 2011 Mar 17.

15.

An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures.

Bader HL, Ruhe AL, Wang LW, Wong AK, Walsh KF, Packer RA, Mitelman J, Robertson KR, O'Brien DP, Broman KW, Shelton GD, Apte SS, Neff MW.

PLoS One. 2010 Sep 17;5(9). pii: e12817. doi: 10.1371/journal.pone.0012817.

16.

Genetic and molecular aspects of acromelic dysplasia.

Le Goff C, Cormier-Daire V.

Pediatr Endocrinol Rev. 2009 Mar;6(3):418-23. Review.

PMID:
19396027
17.

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.

Le Goff C, Morice-Picard F, Dagoneau N, Wang LW, Perrot C, Crow YJ, Bauer F, Flori E, Prost-Squarcioni C, Krakow D, Ge G, Greenspan DS, Bonnet D, Le Merrer M, Munnich A, Apte SS, Cormier-Daire V.

Nat Genet. 2008 Sep;40(9):1119-23. doi: 10.1038/ng.199.

18.

Clinical and morphological phenotype of geleophysic dysplasia.

Giray O, Kýr M, Bora E, Saylam G, Ugurlu B, Gürel D.

Ann Trop Paediatr. 2008 Jun;28(2):161-4. doi: 10.1179/146532808X302206.

PMID:
18510828
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