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Journal Abstract Search

183 related items for PubMed ID: 28811189

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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. 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; 58(6):1085-1094. PubMed ID: 28440867
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  • 6. The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review.
    Karamik G, Tuysuz B, Isik E, Yilmaz A, Alanay Y, Sunamak EC, Durmusalioglu EA, Ozkinay F, Cetin GO, Ozturk N, Mihci E, Nur B.
    Am J Med Genet A; 2023 Jul; 191(7):1814-1825. PubMed ID: 37053206
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  • 8. 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; 36(4):e97-e98. PubMed ID: 31125459
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  • 10. 17q21.31 microdeletion: brain anomalies leading to prenatal diagnosis.
    Egloff M, Encha-Razavi F, Garel C, Bonnière-Darcy M, Millischer AE, Lapierre JM, Fontaine S, de Blois MC, Vekemans M, Turleau C, Ville Y, Malan V.
    Cytogenet Genome Res; 2014 Jul; 144(3):178-82. PubMed ID: 25402493
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  • 14. KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.
    Moreno-Igoa M, Hernández-Charro B, Bengoa-Alonso A, Pérez-Juana-del-Casal A, Romero-Ibarra C, Nieva-Echebarria B, Ramos-Arroyo MA.
    BMC Med Genet; 2015 Aug 22; 16():68. PubMed ID: 26293599
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  • 15. Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome.
    Dingemans AJM, Stremmelaar DE, van der Donk R, Vissers LELM, Koolen DA, Rump P, Hehir-Kwa JY, de Vries BBA.
    Eur J Hum Genet; 2021 Sep 22; 29(9):1418-1423. PubMed ID: 33603161
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  • 16. Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries syndrome.
    Prat D, Katowitz WR, Strong A, Katowitz JA.
    Ophthalmic Genet; 2021 Apr 22; 42(2):186-188. PubMed ID: 33393407
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  • 17. Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).
    Woodfin T, Stoops C, Philips JB, Lose E, Mikhail FM, Hurst A.
    Mol Genet Genomic Med; 2019 Aug 22; 7(8):e829. PubMed ID: 31250568
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  • 18. Anesthesia management for a child with the Koolen-de Vries syndrome: a case report.
    Zhao Y, Zuo Y.
    BMC Anesthesiol; 2024 Apr 13; 24(1):143. PubMed ID: 38614993
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