Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 95

1.

FGD1 as a central regulator of extracellular matrix remodelling--lessons from faciogenital dysplasia.

Genot E, Daubon T, Sorrentino V, Buccione R.

J Cell Sci. 2012 Jul 15;125(Pt 14):3265-70. doi: 10.1242/jcs.093419. Epub 2012 Aug 1.

2.

MLK3 regulates bone development downstream of the faciogenital dysplasia protein FGD1 in mice.

Zou W, Greenblatt MB, Shim JH, Kant S, Zhai B, Lotinun S, Brady N, Hu DZ, Gygi SP, Baron R, Davis RJ, Jones D, Glimcher LH.

J Clin Invest. 2011 Nov;121(11):4383-92. doi: 10.1172/JCI59041. Epub 2011 Oct 3.

3.
4.

Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).

Orrico A, Galli L, Clayton-Smith J, Fryns JP.

Eur J Hum Genet. 2011 Nov;19(11). doi: 10.1038/ejhg.2011.108. Epub 2011 Jun 8. No abstract available.

5.

Faciogenital dysplasia protein Fgd1 regulates invadopodia biogenesis and extracellular matrix degradation and is up-regulated in prostate and breast cancer.

Ayala I, Giacchetti G, Caldieri G, Attanasio F, Mariggiò S, Tetè S, Polishchuk R, Castronovo V, Buccione R.

Cancer Res. 2009 Feb 1;69(3):747-52. doi: 10.1158/0008-5472.CAN-08-1980. Epub 2009 Jan 13.

6.

Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.

Ronce N, Maystadt I, Hubert C, Vonwill S, Devriendt K, Moizard MP, Raynaud M.

Clin Genet. 2012 Jul;82(1):93-6. doi: 10.1111/j.1399-0004.2011.01782.x. Epub 2011 Dec 30. No abstract available.

PMID:
22211847
7.

Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism.

Pilozzi-Edmonds L, Maher TA, Basran RK, Milunsky A, Al-Thihli K, Braverman NE, Alfares A.

Am J Med Genet A. 2011 Aug;155A(8):1987-90. doi: 10.1002/ajmg.a.34094. Epub 2011 Jul 7.

PMID:
21739585
8.

Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015.

Orrico A, Galli L, Clayton-Smith J, Fryns JP.

Eur J Hum Genet. 2015 Apr;23(4). doi: 10.1038/ejhg.2014.178. Epub 2014 Sep 17. No abstract available.

9.

Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia.

Völter C, Martínez R, Hagen R, Kress W.

Eur J Pediatr. 2014 Oct;173(10):1373-6. doi: 10.1007/s00431-014-2317-3. Epub 2014 Apr 27.

PMID:
24770546
10.
12.

A novel mutation in a mother and a son with Aarskog-Scott syndrome.

Altıncık A, Kaname T, Demir K, Böber E.

J Pediatr Endocrinol Metab. 2013;26(3-4):385-8. doi: 10.1515/jpem-2012-0233.

PMID:
23443263
13.
14.

Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy.

Al-Semari A, Wakil SM, Al-Muhaizea MA, Dababo M, Al-Amr R, Alkuraya F, Meyer BF.

Clin Dysmorphol. 2013 Jan;22(1):13-7. doi: 10.1097/MCD.0b013e32835b6dc4.

PMID:
23211637
15.
16.

A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.

Parıltay E, Hazan F, Ataman E, Demir K, Etlik Ö, Özbek E, Özkan B.

J Pediatr Endocrinol Metab. 2016 Sep 1;29(9):1111-4. doi: 10.1515/jpem-2015-0482.

PMID:
27544718
19.

Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome.

Aten E, Sun Y, Almomani R, Santen GW, Messemaker T, Maas SM, Breuning MH, den Dunnen JT.

Hum Mutat. 2013 Mar;34(3):430-4. doi: 10.1002/humu.22252. Epub 2012 Dec 20.

PMID:
23169394
20.

The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor.

Zheng Y, Fischer DJ, Santos MF, Tigyi G, Pasteris NG, Gorski JL, Xu Y.

J Biol Chem. 1996 Dec 27;271(52):33169-72.

Supplemental Content

Support Center