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Journal Abstract Search

191 related items for PubMed ID: 30204964

  • 1. TWO CASES WITH DIFFERENT EPILEPSY TYPE AND DYSMORPHIC FEATURES ASSOCIATED WITH 17q21.31 MICRODELETION SYNDROME.
    Uctepe E, Aktas D, Alikasifoglu M, Gunduz E, Sonmez FM.
    Genet Couns; 2016; 27(3):357-365. PubMed ID: 30204964
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  • 3. 17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome.
    Bernardo P, Madia F, Santulli L, Del Gaudio L, Caccavale C, Zara F, Traverso M, Cirillo M, Striano S, Coppola A.
    Brain Dev; 2016 Aug; 38(7):663-8. PubMed ID: 26897099
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  • 5. Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.
    Zollino M, Orteschi D, Murdolo M, Lattante S, Battaglia D, Stefanini C, Mercuri E, Chiurazzi P, Neri G, Marangi G.
    Nat Genet; 2012 Apr 29; 44(6):636-8. PubMed ID: 22544367
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  • 6. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
    Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, Mattina T, Prescott K, Zhang HZ, Saal HM, Hehir-Kwa JY, Willemsen MH, Ockeloen CW, Jongmans MC, Van der Aa N, Failla P, Barone C, Avola E, Brooks AS, Kant SG, Gerkes EH, Firth HV, Õunap K, Bird LM, Masser-Frye D, Friedman JR, Sokunbi MA, Dixit A, Splitt M, DDD Study, Kukolich MK, McGaughran J, Coe BP, Flórez J, Nadif Kasri N, Brunner HG, Thompson EM, Gecz J, Romano C, Eichler EE, de Vries BB.
    Eur J Hum Genet; 2016 May 29; 24(5):652-9. PubMed ID: 26306646
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  • 7. A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients.
    Terrone G, D'Amico A, Imperati F, Carella M, Palumbo O, Gentile M, Canani RB, Melis D, Romano A, Parente I, Riccitelli M, Del Giudice E.
    Eur J Med Genet; 2012 May 29; 55(8-9):466-71. PubMed ID: 22659270
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  • 13. 17q21.31 microdeletion associated with infantile spasms.
    Wray CD.
    Eur J Med Genet; 2013 Jan 29; 56(1):59-61. PubMed ID: 23123321
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  • 14. 10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence.
    Keen C, Samango-Sprouse C, Dubbs H, Zackai EH.
    Am J Med Genet A; 2017 Mar 29; 173(3):762-765. PubMed ID: 28211987
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  • 15. Molecular and clinical delineation of the 17q22 microdeletion phenotype.
    Laurell T, Lundin J, Anderlid BM, Gorski JL, Grigelioniene G, Knight SJ, Krepischi AC, Nordenskjöld A, Price SM, Rosenberg C, Turnpenny PD, Vianna-Morgante AM, Nordgren A.
    Eur J Hum Genet; 2013 Oct 29; 21(10):1085-92. PubMed ID: 23361222
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  • 16. The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.
    Myers KA, Mandelstam SA, Ramantani G, Rushing EJ, de Vries BB, Koolen DA, Scheffer IE.
    Epilepsia; 2017 Jun 29; 58(6):1085-1094. PubMed ID: 28440867
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  • 17. Borjeson-Forssman-Lehmann syndrome: two severely handicapped females in a family.
    Petridou M, Kimiskidis V, Deligiannis K, Kazis A.
    Clin Neurol Neurosurg; 1997 May 29; 99(2):148-50. PubMed ID: 9213062
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  • 18. Atypical Café-au-Lait Macules in a Patient with Koolen-de Vries Syndrome (17q21.31 Microdeletion Syndrome).
    Han AM, Kusari A, Soeprono F, Eichenfield LF.
    Pediatr Dermatol; 2019 Jul 29; 36(4):e97-e98. PubMed ID: 31125459
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  • 19. Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome.
    Egger JI, Wingbermühle E, Verhoeven WM, Dijkman M, Radke S, de Bruijn ER, de Vries B, Kessels RP, Koolen D.
    Am J Med Genet A; 2013 Jan 29; 161A(1):21-6. PubMed ID: 23169757
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  • 20. Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH.
    Kitsiou-Tzeli S, Frysira H, Giannikou K, Syrmou A, Kosma K, Kakourou G, Leze E, Sofocleous C, Kanavakis E, Tzetis M.
    Gene; 2012 Jan 15; 492(1):319-24. PubMed ID: 22037486
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