| 1 |
A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE. ( 28103835
)
|
Hamzeh A.R....Bastaki F.
|
2017 |
| 2 |
Aarskog-Scott syndrome: An unusual cause of scoliosis. ( 29021683
)
|
Sariyilmaz K....Domanic U.
|
2017 |
| 3 |
Novel variant in the FGD1 gene causing Aarskog-Scott syndrome. ( 28587322
)
|
Ge Y....Cai H.
|
2017 |
| 4 |
A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures. ( 27551683
)
|
Griffin L.B....Keegan C.E.
|
2016 |
| 5 |
A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel. ( 27544718
)
|
ParA+ltay E....A9zkan B.
|
2016 |
| 6 |
Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome. ( 26029706
)
|
PAcrez-Coria M....MartA-nez-de-Villarreal L.E.
|
2015 |
| 7 |
Ruptured Posterior Communicating Artery Aneurysm Associated with Aarskog Syndrome. ( 28663972
)
|
CA+kla U....BaA9kaya M.K.
|
2015 |
| 8 |
Aarskog-Scott syndrome presenting with psychosis: A case study. ( 25911513
)
|
Trevizol A.P....Shiozawa P.
|
2015 |
| 9 |
Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia). ( 25227149
)
|
Orrico A....Fryns J.P.
|
2014 |
| 10 |
Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia. ( 24770546
)
|
VAPlter C....Kress W.
|
2014 |
| 11 |
Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. ( 23211637
)
|
Al-Semari A....Meyer B.F.
|
2013 |
| 12 |
|
Shanavas M....Sharif A.
|
2013 |
| 13 |
A novel mutation in a mother and a son with Aarskog-Scott syndrome. ( 23443263
)
|
AltA+ncA+k A....BAPber E.
|
2013 |
| 14 |
Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. ( 23169394
)
|
Aten E....den Dunnen J.T.
|
2013 |
| 15 |
X-linked Aarskog syndrome: report on a novel FGD1 gene mutation. Executive dysfunction as part of the behavioural phenotype. ( 22876573
)
|
Verhoeven W.M....Hoogeboom A.J.
|
2012 |
| 16 |
Aarskog-scott syndrome: a review and case report. ( 25206170
)
|
Closs L.Q....Vargas I.A.
|
2012 |
| 17 |
Mania with Aarskog-Scott syndrome. ( 22565081
)
|
Nayak R.B....Pandurangi A.
|
2012 |
| 18 |
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. ( 22211847
)
|
Ronce N....Raynaud M.
|
2012 |
| 19 |
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia). ( 21654724
)
|
Orrico A....Fryns J.P.
|
2011 |
| 20 |
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. ( 21739585
)
|
Pilozzi-Edmonds L....Alfares A.
|
2011 |
| 21 |
The Aarskog-Scott syndrome protein Fgd1 regulates podosome formation and extracellular matrix remodeling in transforming growth factor I^-stimulated aortic endothelial cells. ( 21911474
)
|
Daubon T....GAcnot E.
|
2011 |
| 22 |
Familial syndrome resembling Aarskog syndrome. ( 20607856
)
|
Xu M....Yu Y.
|
2010 |
| 23 |
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. ( 20082460
)
|
Orrico A....Sorrentino V.
|
2010 |
| 24 |
First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. ( 19110080
)
|
Bedoyan J.K....Ahmad A.
|
2009 |
| 25 |
Bilateral anterior hip dislocation in a child with Aarskog syndrome: a case report. ( 18812898
)
|
Zielinski J.A....Pack L.L.
|
2008 |
| 26 |
Aarskog syndrome: a case report and literature review. ( 18577494
)
|
Taub M.B....Stanton A.
|
2008 |
| 27 |
Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1. ( 17847065
)
|
Bottani A....Conrad B.
|
2007 |
| 28 |
Cerebrovascular disease associated with Aarskog-Scott syndrome. ( 17294235
)
|
DiLuna M.L....Gunel M.
|
2007 |
| 29 |
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. ( 17152066
)
|
Orrico A....Sorrentino V.
|
2007 |
| 30 |
Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. ( 16353258
)
|
Shalev S.A....Schwartz C.E.
|
2006 |
| 31 |
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. ( 16688726
)
|
Kaname T....Naritomi K.
|
2006 |
| 32 |
Female counterpart of shawl scrotum in Aarskog-Scott syndrome. ( 16953916
)
|
Moraes S.G....Maciel-Guerra A.T.
|
2006 |
| 33 |
Aarskog syndrome with aortic root dilatation and sub-valvular aortic stenosis: surgical management. ( 17670353
)
|
Nouraei S.M....Dunning J.
|
2005 |
| 34 |
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). ( 15809997
)
|
Orrico A....Sorrentino V.
|
2005 |
| 35 |
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. ( 14560308
)
|
Orrico A....Sorrentino V.
|
2004 |
| 36 |
Growth hormone treatment in Aarskog syndrome: analysis of the KIGS (Pharmacia International Growth Database) data. ( 14594174
)
|
Darendeliler F....Bakker B.
|
2003 |
| 37 |
Orthodontic treatment of a case of Aarskog syndrome. ( 12739682
)
|
Batra P....Parkash H.
|
2003 |
| 38 |
|
Chaddha V....Phadke S.R.
|
2002 |
| 39 |
A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). ( 10930571
)
|
Orrico A....Sorrentino V.
|
2000 |
| 40 |
Skeletal-specific expression of Fgd1 during bone formation and skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome). ( 10906777
)
|
Gorski J.L....Liu Z.
|
2000 |
| 41 |
Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. ( 11093277
)
|
Schwartz C.E....Neri G.
|
2000 |
| 42 |
Isolation, characterization, and mapping of the mouse Fgd3 gene, a new Faciogenital Dysplasia (FGD1; Aarskog Syndrome) gene homologue. ( 10721717
)
|
Pasteris N.G....Gorski J.L.
|
2000 |
| 43 |
Prenatal sonographic diagnosis of Aarskog syndrome. ( 10511304
)
|
Sepulveda W....Aracena M.
|
1999 |
| 44 |
Brief report: autism and Aarskog syndrome. ( 10382140
)
|
Assumpcao F....Mercadante M.
|
1999 |
| 45 |
Dental and craniofacial features of Aarskog syndrome: report of a case and review of literature. ( 10204459
)
|
Reddy P....Duggal R.
|
1999 |
| 46 |
Isolation, characterization, and mapping of the mouse and human Fgd2 genes, faciogenital dysplasia (FGD1; Aarskog syndrome) gene homologues. ( 10458911
)
|
Pasteris N.G....Gorski J.L.
|
1999 |
| 47 |
The effect of growth hormone treatment on stature in Aarskog syndrome. ( 10392362
)
|
Petryk A....Blethen S.L.
|
1999 |
| 48 |
Intelligence and development in Aarskog syndrome. ( 9875050
)
|
Logie L.J....Porteous M.E.
|
1998 |
| 49 |
Genomic organization of the faciogenital dysplasia (FGD1; Aarskog syndrome) gene. ( 9268645
)
|
Pasteris N.G....Gorski J.L.
|
1997 |
| 50 |
Aarskog syndrome associated with hypermetropia and toe anomaly. ( 9497838
)
|
Caksen H....GikrikAsi V.
|
1997 |
Rare neurological diseases
