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Journal Abstract Search

120 related items for PubMed ID: 23211637

  • 1.
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  • 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. PubMed ID: 21739585
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  • 3. X-linked Aarskog syndrome: report on a novel FGD1 gene mutation. Executive dysfunction as part of the behavioural phenotype.
    Verhoeven WM, Egger JI, Hoogeboom AJ.
    Genet Couns; 2012 Aug; 23(2):157-67. PubMed ID: 22876573
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  • 4. 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. PubMed ID: 22211847
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  • 5. 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):. PubMed ID: 21654724
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  • 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. PubMed ID: 23169394
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  • 8. 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):. PubMed ID: 25227149
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  • 9. A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly.
    Kessel I, German A, Peleg A, Regeneron Genetics Center, Gonzaga-Jauregui C, Paperna T, Ekhilevitch N, Kurolap A, Baris Feldman H, Sagi-Dain L.
    Am J Med Genet A; 2021 Oct; 185(10):3161-3166. PubMed ID: 34145742
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  • 11. 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. PubMed ID: 25911513
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  • 12. Dental and Maxillofacial Signs in Aarskog Syndrome: A Review of 3 Siblings and the Literature.
    Depeyre A, Schlund M, Gryseleyn R, Ferri J.
    J Oral Maxillofac Surg; 2018 Oct; 76(10):2202-2208. PubMed ID: 29689188
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  • 15. Aarskog-Scott syndrome: clinical and molecular characterisation of a family with the coexistence of a novel FGD1 mutation and 16p13.11-p12.3 microduplication.
    Pavone P, Marino S, Maniaci A, Cocuzza S.
    BMJ Case Rep; 2020 Jun 30; 13(6):. PubMed ID: 32606125
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  • 16. Aarskog-Scott syndrome.
    Shanavas M, Chatra L, Shenai P, Veena, Rao PK, Prabhu R, Sharif A.
    J Coll Physicians Surg Pak; 2013 May 30; 23(5):378-80. PubMed ID: 23673187
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  • 17. 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 01; 29(9):1111-4. PubMed ID: 27544718
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  • 18. 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. PubMed ID: 22854039
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  • 19. 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 15; 173(10):1373-6. PubMed ID: 24770546
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  • 20. Mania with Aarskog-Scott syndrome.
    Nayak RB, Ambika L, Bhogale GS, Pandurangi A.
    Indian Pediatr; 2012 Apr 15; 49(4):327-8. PubMed ID: 22565081
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