| 1 |
A new mutation of ANO6 in two familial cases of Scott syndrome. ( 27879994
)
|
Boisseau P...Fouassier M
|
2018 |
| 2 |
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. ( 30554721
)
|
LaCroix AJ...Sol-Church K
|
2018 |
| 3 |
A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE. ( 28103835
)
|
Hamzeh AR...Bastaki F
|
2017 |
| 4 |
Novel variant in the FGD1 gene causing Aarskog-Scott syndrome. ( 28587322
)
|
Ge Y...Cai H
|
2017 |
| 5 |
Aarskog-Scott syndrome: An unusual cause of scoliosis. ( 29021683
)
|
Sariyilmaz K...Domanic U
|
2017 |
| 6 |
A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel. ( 27544718
)
|
Par?ltay E...?zkan B
|
2016 |
| 7 |
A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures. ( 27551683
)
|
Griffin LB...Keegan CE
|
2016 |
| 8 |
Platelets and coagulation in thrombus formation: aberrations in the Scott syndrome. ( 27207414
)
|
van Geffen JP...Heemskerk JW
|
2016 |
| 9 |
Combined Quantification of the Global Proteome, Phosphoproteome, and Proteolytic Cleavage to Characterize Altered Platelet Functions in the Human Scott Syndrome. ( 27535140
)
|
Solari FA...Zahedi RP
|
2016 |
| 10 |
Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015. ( 25227149
)
|
Orrico A...Fryns JP
|
2015 |
| 11 |
Aarskog-Scott syndrome presenting with psychosis: A case study. ( 25911513
)
|
Trevizol AP...Shiozawa P
|
2015 |
| 12 |
Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome. ( 26029706
)
|
P?rez-Coria M...Mart?nez-de-Villarreal LE
|
2015 |
| 13 |
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 MC
|
2015 |
| 14 |
Structure and functioning of a multidisciplinary 'Heart Team' for patients with coronary artery disease: rationale and recommendations from a joint BCS/BCIS/SCTS working group. ( 25762394
)
|
Luckraz H...Cooper G
|
2015 |
| 15 |
Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia. ( 24770546
)
|
V?lter C...Kress W
|
2014 |
| 16 |
An unusual case of B-ALL occurring in a patient with acute promyelocytic leukemia in remission after two hematopoietic SCTs: whose are the leukemic cells? ( 24887386
)
|
Bigliardi S...Forghieri F
|
2014 |
| 17 |
The impact of CD34+ cell dose on engraftment after SCTs: personalized estimates based on mathematical modeling. ( 24056742
)
|
Stiehl T...Marciniak-Czochra A
|
2014 |
| 18 |
Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. ( 23169394
)
|
Aten E...den Dunnen JT
|
2013 |
| 19 |
Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. ( 23211637
)
|
Al-Semari A...Meyer BF
|
2013 |
| 20 |
A novel mutation in a mother and a son with Aarskog-Scott syndrome. ( 23443263
)
|
Alt?nc?k A...B?ber E
|
2013 |
| 21 |
|
Shanavas M...Sharif A
|
2013 |
| 22 |
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. ( 22211847
)
|
Ronce N...Raynaud M
|
2012 |
| 23 |
Mania with Aarskog-Scott syndrome. ( 22565081
)
|
Nayak RB...Pandurangi A
|
2012 |
| 24 |
Aarskog-scott syndrome: a review and case report. ( 25206170
)
|
Closs LQ...Vargas IA
|
2012 |
| 25 |
Diagnosis of Scott syndrome in patient with bleeding disorder of unknown cause. ( 22027759
)
|
Flores-Nascimento MC...Annichino-Bizzacchi JM
|
2012 |
| 26 |
Clinical characterization of canine platelet procoagulant deficiency (Scott syndrome). ( 23061683
)
|
Jandrey KE...Brooks MB
|
2012 |
| 27 |
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia). ( 21654724
)
|
Orrico A...Fryns JP
|
2011 |
| 28 |
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. ( 21739585
)
|
Pilozzi-Edmonds L...Alfares A
|
2011 |
| 29 |
The Aarskog-Scott syndrome protein Fgd1 regulates podosome formation and extracellular matrix remodeling in transforming growth factor β-stimulated aortic endothelial cells. ( 21911474
)
|
Daubon T...G?not E
|
2011 |
| 30 |
Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome. ( 21511967
)
|
Castoldi E...Bevers EM
|
2011 |
| 31 |
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 |
| 32 |
Are structural characteristics of programs and hospitals associated with 100-day readmission of hematopoietic SCTs in Taiwan? ( 21113192
)
|
Hsieh SI...Lu TH
|
2011 |
| 33 |
Forging a stronger bond between SCTS and CTS. ( 22029796
)
|
Feldman AM
|
2011 |
| 34 |
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. ( 20082460
)
|
Orrico A...Sorrentino V
|
2010 |
| 35 |
Laboratory monitoring of Scott Syndrome. ( 19814742
)
|
Percy CL...Collins PW
|
2010 |
| 36 |
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 |
| 37 |
Prompt recovery of recipient hematopoiesis after two consecutive haploidentical peripheral blood SCTs in a child with leukocyte adhesion defect III syndrome. ( 19584822
)
|
Elhasid R...Rowe JM
|
2010 |
| 38 |
Safety of the live, attenuated varicella vaccine in pediatric recipients of hematopoietic SCTs. ( 20190839
)
|
Kussmaul SC...Weintrub PS
|
2010 |
| 39 |
Calcium-dependent phospholipid scrambling by TMEM16F. ( 21107324
)
|
Suzuki J...Nagata S
|
2010 |
| 40 |
First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. ( 19110080
)
|
Bedoyan JK...Ahmad A
|
2009 |
| 41 |
Evaluation of platelet function screening tests to detect platelet procoagulant deficiency in dogs with Scott syndrome. ( 19351331
)
|
Brooks MB...Center S
|
2009 |
| 42 |
Absence of platelet-dependent fibrin formation in a patient with Scott syndrome. ( 19572071
)
|
Wielders SJ...Lindhout T
|
2009 |
| 43 |
A novel approach for quantification of KIR expression in healthy donors and pediatric recipients of hematopoietic SCTs. ( 19029967
)
|
Chen X...Hale GA
|
2009 |
| 44 |
Exclusion of ABCA-1 as a candidate gene for canine Scott syndrome. ( 18844827
)
|
Brooks MB...Bustamante CD
|
2008 |
| 45 |
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 |
| 46 |
Cerebrovascular disease associated with Aarskog-Scott syndrome. ( 17294235
)
|
Diluna ML...Gunel M
|
2007 |
| 47 |
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 |
| 48 |
Scott syndrome dogs have impaired coated-platelet formation and calcein-release but normal mitochondrial depolarization. ( 17723137
)
|
Brooks MB...Dale GL
|
2007 |
| 49 |
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. ( 16688726
)
|
Kaname T...Naritomi K
|
2006 |
| 50 |
Female counterpart of shawl scrotum in Aarskog-Scott syndrome. ( 16953916
)
|
Moraes SG...Maciel-Guerra AT
|
2006 |
