Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 114

1.

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
2.

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
3.

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.

4.
5.

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.

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.

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
8.

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
9.

Aarskog-Scott syndrome presenting with psychosis: A case study.

Trevizol AP, Sato IA, Dias DR, de Barros Calfat EL, de Carvalho Tasso B, Alberto RL, Cordeiro Q, Shiozawa P.

Schizophr Res. 2015 Jun;165(1):108-9. doi: 10.1016/j.schres.2015.04.011. Epub 2015 Apr 21. No abstract available.

PMID:
25911513
10.

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
11.

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
12.

Aarskog-Scott syndrome.

Shanavas M, Chatra L, Shenai P, Veena, Rao PK, Prabhu R, Sharif A.

J Coll Physicians Surg Pak. 2013 May;23(5):378-80. doi: 05.2013/JCPSP.378380. No abstract available.

PMID:
23673187
13.

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.

14.

Mania with Aarskog-Scott syndrome.

Nayak RB, Ambika L, Bhogale GS, Pandurangi A.

Indian Pediatr. 2012 Apr;49(4):327-8.

15.

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.

16.

A complex Xp11.22 deletion in a patient with syndromic autism: exploration of FAM120C as a positional candidate gene for autism.

De Wolf V, Crepel A, Schuit F, van Lommel L, Ceulemans B, Steyaert J, Seuntjens E, Peeters H, Devriendt K.

Am J Med Genet A. 2014 Dec;164A(12):3035-41. doi: 10.1002/ajmg.a.36752. Epub 2014 Sep 24.

PMID:
25258334
17.
18.
19.

Congenital heart defects in Aarskog syndrome.

Fernandez I, Tsukahara M, Mito H, Yoshii H, Uchida M, Matsuo K, Kajii T.

Am J Med Genet. 1994 May 1;50(4):318-22. Review.

PMID:
8209909
20.

First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.

Bedoyan JK, Friez MJ, DuPont B, Ahmad A.

Eur J Med Genet. 2009 Jul-Aug;52(4):262-4. doi: 10.1016/j.ejmg.2008.12.001. Epub 2008 Dec 16.

PMID:
19110080

Supplemental Content

Support Center