Similar articles for PMID: 21683322

Year	Number of Results
1994	4
1995	3
1996	5
1997	3
1999	2
2000	3
2001	6
2002	7
2003	1
2004	3
2005	3
2006	1
2007	3
2008	4
2009	5
2010	2
2011	6
2012	11
2013	10
2014	8
2015	5
2016	5
2017	3
2018	4
2019	5
2020	6
2021	6
2022	6
2023	2
2024	0

1

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PÖ, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Mégarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V. Le Goff C, et al. Am J Hum Genet. 2011 Jul 15;89(1):7-14. doi: 10.1016/j.ajhg.2011.05.012. Epub 2011 Jun 16. Am J Hum Genet. 2011. PMID: 21683322 Free PMC article.

2

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

McInerney-Leo AM, Le Goff C, Leo PJ, Kenna TJ, Keith P, Harris JE, Steer R, Bole-Feysot C, Nitschke P, Kielty C, Brown MA, Zankl A, Duncan EL, Cormier-Daire V. McInerney-Leo AM, et al. J Med Genet. 2016 Jul;53(7):457-64. doi: 10.1136/jmedgenet-2015-103647. Epub 2016 Apr 11. J Med Genet. 2016. PMID: 27068007

3

Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia--a novel mouse model providing insights into geleophysic dysplasia.

Hubmacher D, Wang LW, Mecham RP, Reinhardt DP, Apte SS. Hubmacher D, et al. Dis Model Mech. 2015 May;8(5):487-99. doi: 10.1242/dmm.017046. Epub 2015 Mar 11. Dis Model Mech. 2015. PMID: 25762570 Free PMC article.

4

A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia.

Cheng SW, Luk HM, Chu YWY, Tung YL, Kwan EY, Lo IF, Chung BH. Cheng SW, et al. Eur J Med Genet. 2018 Apr;61(4):219-224. doi: 10.1016/j.ejmg.2017.11.018. Epub 2017 Nov 27. Eur J Med Genet. 2018. PMID: 29191498 Review.

5

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

Wang Y, Zhang H, Ye J, Han L, Gu X. Wang Y, et al. J Hum Genet. 2014 Oct;59(10):563-7. doi: 10.1038/jhg.2014.73. Epub 2014 Aug 21. J Hum Genet. 2014. PMID: 25142510

6

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

Le Goff C, Cormier-Daire V. Le Goff C, et al. 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. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791552 Review.

7

Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.

Cain SA, McGovern A, Baldwin AK, Baldock C, Kielty CM. Cain SA, et al. PLoS One. 2012;7(11):e48634. doi: 10.1371/journal.pone.0048634. Epub 2012 Nov 2. PLoS One. 2012. PMID: 23133647 Free PMC article.

8

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. Lee T, et al. Gene. 2013 Jan 10;512(2):456-9. doi: 10.1016/j.gene.2012.10.060. Epub 2012 Nov 2. Gene. 2013. PMID: 23124041 Clinical Trial.

9

A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.

Jensen SA, Iqbal S, Bulsiewicz A, Handford PA. Jensen SA, et al. Hum Mol Genet. 2015 Aug 1;24(15):4454-63. doi: 10.1093/hmg/ddv181. Epub 2015 May 15. Hum Mol Genet. 2015. PMID: 25979247 Free PMC article.

10

Similarity of geleophysic dysplasia and Weill-Marchesani syndrome.

Kochhar A, Kirmani S, Cetta F, Younge B, Hyland JC, Michels V. Kochhar A, et al. Am J Med Genet A. 2013 Dec;161A(12):3130-2. doi: 10.1002/ajmg.a.36147. Epub 2013 Sep 24. Am J Med Genet A. 2013. PMID: 24214363

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