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Items: 1 to 20 of 167

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.

Am J Hum Genet. 2011 Jul 15;89(1):7-14. doi: 10.1016/j.ajhg.2011.05.012. Epub 2011 Jun 16.

2.

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
3.

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
4.

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
5.

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.

PLoS One. 2012;7(11):e48634. doi: 10.1371/journal.pone.0048634. Epub 2012 Nov 2.

6.

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.

Dis Model Mech. 2015 May;8(5):487-99. doi: 10.1242/dmm.017046. Epub 2015 Mar 11.

7.

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
8.

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.

9.

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
10.

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.

11.

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.

Hum Mol Genet. 2015 Aug 1;24(15):4454-63. doi: 10.1093/hmg/ddv181. Epub 2015 May 15.

12.

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
13.

Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.

Palz M, Tiecke F, Booms P, Göldner B, Rosenberg T, Fuchs J, Skovby F, Schumacher H, Kaufmann UC, von Kodolitsch Y, Nienaber CA, Leitner C, Katzke S, Vetter B, Hagemeier C, Robinson PN.

Am J Med Genet. 2000 Mar 20;91(3):212-21.

PMID:
10756346
14.

Microenvironmental regulation by fibrillin-1.

Sengle G, Tsutsui K, Keene DR, Tufa SF, Carlson EJ, Charbonneau NL, Ono RN, Sasaki T, Wirtz MK, Samples JR, Fessler LI, Fessler JH, Sekiguchi K, Hayflick SJ, Sakai LY.

PLoS Genet. 2012 Jan;8(1):e1002425. doi: 10.1371/journal.pgen.1002425. Epub 2012 Jan 5.

15.

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
16.

Orthopedics management of acromicric dysplasia: follow up of nine patients.

Klein C, Le Goff C, Topouchian V, Odent S, Violas P, Glorion C, Cormier-Daire V.

Am J Med Genet A. 2014 Feb;164A(2):331-7. doi: 10.1002/ajmg.a.36139. Epub 2013 Dec 11.

PMID:
24339047
17.

Juvenile idiopathic arthritis, mitral valve prolapse and a familial variant involving the integrin-binding fragment of FBN1.

Wilson BT, Jensen SA, McAnulty CP, Brennan P, Handford PA.

Am J Med Genet A. 2013 Aug;161A(8):2047-51. doi: 10.1002/ajmg.a.36011. Epub 2013 Jun 21.

PMID:
23794388
18.

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.

J Med Genet. 2016 Jul;53(7):457-64. doi: 10.1136/jmedgenet-2015-103647. Epub 2016 Apr 11.

PMID:
27068007
20.

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.

Tiecke F, Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hövels-Gürich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T.

Eur J Hum Genet. 2001 Jan;9(1):13-21.

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