142 related articles for article (PubMed ID: 22854039)
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; 125(Pt 14):3265-70. PubMed ID: 22854039
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 21965325
[TBL] [Abstract][Full Text] [Related]
3. A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE.
Hamzeh AR; Saif F; Nair P; Binjab AJ; Mohamed M; Al-Ali MT; Bastaki F
BMC Pediatr; 2017 Jan; 17(1):31. PubMed ID: 28103835
[TBL] [Abstract][Full Text] [Related]
4. 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; 69(3):747-52. PubMed ID: 19141649
[TBL] [Abstract][Full Text] [Related]
5. The Aarskog-Scott syndrome protein Fgd1 regulates podosome formation and extracellular matrix remodeling in transforming growth factor β-stimulated aortic endothelial cells.
Daubon T; Buccione R; Génot E
Mol Cell Biol; 2011 Nov; 31(22):4430-41. PubMed ID: 21911474
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 22211847
[No Abstract] [Full Text] [Related]
7. The First Korean Family with Aarskog-Scott Syndrome Harboring a Novel Mutation in
Bae GY; Kim MS; Kim JY; Jang JH; Lee SM; Cho SY; Jin DK
Ann Clin Lab Sci; 2020 Sep; 50(5):691-698. PubMed ID: 33067218
[TBL] [Abstract][Full Text] [Related]
8. Skeletal-specific expression of Fgd1 during bone formation and skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome).
Gorski JL; Estrada L; Hu C; Liu Z
Dev Dyn; 2000 Aug; 218(4):573-86. PubMed ID: 10906777
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 23443263
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 23211637
[TBL] [Abstract][Full Text] [Related]
11. 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):. PubMed ID: 25227149
[No Abstract] [Full Text] [Related]
12. 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):. PubMed ID: 21654724
[No Abstract] [Full Text] [Related]
13. X-linked Aarskog syndrome: report on a novel FGD1 gene mutation. Executive dysfunction as part of the behavioural phenotype.
Verhoeven WM; Egger JI; Hoogeboom AJ
Genet Couns; 2012; 23(2):157-67. PubMed ID: 22876573
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 24770546
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 21739585
[TBL] [Abstract][Full Text] [Related]
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; 29(9):1111-4. PubMed ID: 27544718
[TBL] [Abstract][Full Text] [Related]
17. FGD1-related Aarskog-Scott syndrome: Identification of four novel variations and a literature review of clinical and molecular aspects.
Li S; Tian A; Wen Y; Gu W; Li W; Qiao X; Zhang C; Luo X
Eur J Pediatr; 2024 May; 183(5):2257-2272. PubMed ID: 38411716
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 23169394
[TBL] [Abstract][Full Text] [Related]
19. Isolation, characterization, and mapping of the mouse Fgd3 gene, a new Faciogenital Dysplasia (FGD1; Aarskog Syndrome) gene homologue.
Pasteris NG; Nagata K; Hall A; Gorski JL
Gene; 2000 Jan; 242(1-2):237-47. PubMed ID: 10721717
[TBL] [Abstract][Full Text] [Related]
20. Genomic organization of the faciogenital dysplasia (FGD1; Aarskog syndrome) gene.
Pasteris NG; Buckler J; Cadle AB; Gorski JL
Genomics; 1997 Aug; 43(3):390-4. PubMed ID: 9268645
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]