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Items: 1 to 20 of 105

1.

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
2.

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.

3.

Mania with Aarskog-Scott syndrome.

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

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

4.

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.

5.

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
6.

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
7.
8.

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
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.

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
11.

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
12.

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
13.

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
14.

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
15.

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.

16.
17.

The Aarskog syndrome.

Pedersen JC, Fryns JP, Bracke P, Geeraert M, Van der Berghe H.

Ann Genet. 1980;23(2):108-10. No abstract available.

PMID:
6967282
18.

[Amplification of the clinical spectrum of the Robinow syndrome].

González de Dios J, Moya Benavent M.

An Esp Pediatr. 1998 Feb;48(2):167-9. Spanish. No abstract available.

PMID:
9577026
19.

Aarskog syndrome in a Brazilian boy born to consanguineous parents.

Guion-Almeida ML, Richieri-Costa A.

Am J Med Genet. 1992 Jul 15;43(5):808-10.

PMID:
1642267
20.

[Fetal face syndrome (Robinow syndrome].

Zizka J, Gayer J, Jüttnerová V, Balícek P, Tesarová B.

Cesk Pediatr. 1981 Jun;36(6):328-30. Czech. No abstract available.

PMID:
7273217
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