Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 14

1.

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
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

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;161(9):2305-10. doi: 10.1002/ajmg.a.36044. Epub 2013 Jul 29.

PMID:
23897642
[PubMed - indexed for MEDLINE]
4.

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.

PMID:
23514648
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

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.

PMID:
21858451
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
21415077
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
20862248
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
18677313
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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
[PubMed - indexed for MEDLINE]
13.

Geleophysic dysplasia: a patient with a severe form of the disorder.

Panagopoulos P, Fryssira H, Koutras I, Daskalakis G, Economou A, Benetou V, Antsaklis A.

J Obstet Gynaecol. 2005 Nov;25(8):818-20. No abstract available.

PMID:
16368598
[PubMed - indexed for MEDLINE]
14.

Natural history of cardiac involvement in geleophysic dysplasia.

Scott A, Yeung S, Dickinson DF, Karbani G, Crow YJ.

Am J Med Genet A. 2005 Jan 30;132A(3):320-3. Review.

PMID:
15690380
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk