| 1 |
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. ( 30554721
)
|
LaCroix AJ...Sol-Church K
|
2019 |
| 2 |
A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE. ( 28103835
)
|
Hamzeh A.R....Bastaki F.
|
2017 |
| 3 |
Aarskog-Scott syndrome: An unusual cause of scoliosis. ( 29021683
)
|
Sariyilmaz K....Domanic U.
|
2017 |
| 4 |
Novel variant in the FGD1 gene causing Aarskog-Scott syndrome. ( 28587322
)
|
Ge Y....Cai H.
|
2017 |
| 5 |
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 |
| 6 |
Platelets and coagulation in thrombus formation: aberrations in the Scott syndrome. ( 27207414
)
|
van Geffen J.P....Heemskerk J.W.
|
2016 |
| 7 |
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 |
| 8 |
Combined quantification of the global proteome, phosphoproteome and proteolytic cleavage to characterize altered platelet functions in the human Scott syndrome. ( 27535140
)
|
Solari F.A....Zahedi R.P.
|
2016 |
| 9 |
A new mutation of ANO6 in two familial cases of Scott syndrome. ( 27879994
)
|
Boisseau P....Fouassier M.
|
2016 |
| 10 |
Detection of phosphatidyl serine on activated platelets' surface by flow cytometry in whole blood: a simpler test for the diagnosis of Scott syndrome. ( 25823976
)
|
Halliez M....Bene M.C.
|
2015 |
| 11 |
Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome. ( 26029706
)
|
PAcrez-Coria M....MartA-nez-de-Villarreal L.E.
|
2015 |
| 12 |
Aarskog-Scott syndrome presenting with psychosis: A case study. ( 25911513
)
|
Trevizol A.P....Shiozawa P.
|
2015 |
| 13 |
Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia). ( 25227149
)
|
Orrico A....Fryns J.P.
|
2014 |
| 14 |
Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia. ( 24770546
)
|
VAPlter C....Kress W.
|
2014 |
| 15 |
Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. ( 23211637
)
|
Al-Semari A....Meyer B.F.
|
2013 |
| 16 |
|
Shanavas M....Sharif A.
|
2013 |
| 17 |
A novel mutation in a mother and a son with Aarskog-Scott syndrome. ( 23443263
)
|
AltA+ncA+k A....BAPber E.
|
2013 |
| 18 |
Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. ( 23169394
)
|
Aten E....den Dunnen J.T.
|
2013 |
| 19 |
Clinical characterization of canine platelet procoagulant deficiency (Scott syndrome). ( 23061683
)
|
Jandrey K.E....Brooks M.B.
|
2012 |
| 20 |
Diagnosis of Scott syndrome in patient with bleeding disorder of unknown cause. ( 22027759
)
|
Flores-Nascimento M.C....Annichino-Bizzacchi J.M.
|
2012 |
| 21 |
Aarskog-scott syndrome: a review and case report. ( 25206170
)
|
Closs L.Q....Vargas I.A.
|
2012 |
| 22 |
Mania with Aarskog-Scott syndrome. ( 22565081
)
|
Nayak R.B....Pandurangi A.
|
2012 |
| 23 |
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. ( 22211847
)
|
Ronce N....Raynaud M.
|
2012 |
| 24 |
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia). ( 21654724
)
|
Orrico A....Fryns J.P.
|
2011 |
| 25 |
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. ( 21739585
)
|
Pilozzi-Edmonds L....Alfares A.
|
2011 |
| 26 |
Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome. ( 21511967
)
|
Castoldi E....Bevers E.M.
|
2011 |
| 27 |
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 |
| 28 |
Platelet membrane phospholipid asymmetry: from the characterization of a scramblase activity to the identification of an essential protein mutated in Scott syndrome. ( 21958383
)
|
Lhermusier T....Payrastre B.
|
2011 |
| 29 |
A genome-wide linkage scan in German shepherd dogs localizes canine platelet procoagulant deficiency (Scott syndrome) to canine chromosome 27. ( 19854246
)
|
Brooks M....Mezey J.
|
2010 |
| 30 |
Laboratory monitoring of Scott Syndrome. ( 19814742
)
|
Percy C.L....Collins P.W.
|
2010 |
| 31 |
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. ( 20082460
)
|
Orrico A....Sorrentino V.
|
2010 |
| 32 |
Evaluation of platelet function screening tests to detect platelet procoagulant deficiency in dogs with Scott syndrome. ( 19351331
)
|
Brooks M.B....Center S.
|
2009 |
| 33 |
Absence of platelet-dependent fibrin formation in a patient with Scott syndrome. ( 19572071
)
|
Wielders S.J....Lindhout T.
|
2009 |
| 34 |
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 |
| 35 |
Exclusion of ABCA-1 as a candidate gene for canine Scott syndrome. ( 18844827
)
|
Brooks M.B....Bustamante C.D.
|
2008 |
| 36 |
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 |
| 37 |
Scott syndrome dogs have impaired coated-platelet formation and calcein-release but normal mitochondrial depolarization. ( 17723137
)
|
Brooks M.B....Dale G.L.
|
2007 |
| 38 |
Cerebrovascular disease associated with Aarskog-Scott syndrome. ( 17294235
)
|
DiLuna M.L....Gunel M.
|
2007 |
| 39 |
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 |
| 40 |
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. ( 16688726
)
|
Kaname T....Naritomi K.
|
2006 |
| 41 |
Female counterpart of shawl scrotum in Aarskog-Scott syndrome. ( 16953916
)
|
Moraes S.G....Maciel-Guerra A.T.
|
2006 |
| 42 |
Identification of genes involved in Ca2+ ionophore A23187-mediated apoptosis and demonstration of a high susceptibility for transcriptional repression of cell cycle genes in B lymphoblasts from a patient with Scott syndrome. ( 16242039
)
|
Kozian D....Kerbiriou-Nabias D.
|
2005 |
| 43 |
A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome. ( 15790791
)
|
Albrecht C....Higgins C.F.
|
2005 |
| 44 |
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 |
| 45 |
Characterisation of lymphocyte responses to Ca2+ in Scott syndrome. ( 14961172
)
|
Elliott J.I....McVey J.H.
|
2004 |
| 46 |
Scott syndrome, a bleeding disorder caused by defective scrambling of membrane phospholipids. ( 15164759
)
|
Zwaal R.F....Bevers E.M.
|
2004 |
| 47 |
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 |
| 48 |
Subproteomics analysis of phosphorylated proteins: application to the study of B-lymphoblasts from a patient with Scott syndrome. ( 12124928
)
|
Imam-Sghiouar N....Joubert-Caron R.
|
2002 |
| 49 |
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 |
| 50 |
Assessment of the expression of candidate human plasma membrane phospholipid scramblase in Scott syndrome cells. ( 10064019
)
|
Janel N....Kerbiriou-Nabias D.
|
1999 |
