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Journal Abstract Search

121 related items for PubMed ID: 30376488

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  • 3. 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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  • 4. Early fetal presentation of Koolen-de Vries: Case report with literature review.
    Sauvestre F, Marguet F, Rooryck C, Vuillaume ML, Cardinaud F, Laquerrière A, André G, Pelluard F.
    Eur J Med Genet; 2017 Nov 13; 60(11):605-609. PubMed ID: 28811189
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  • 7. Prenatal ultrasound findings in Koolen-de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome.
    García-Santiago FA, Martínez-Payo C, Mansilla E, Santos-Simarro F, Ruiz de Azua Ballesteros M, Mori MÁ, Antolín Alvarado E, Nieto Y, Vallcorba I, Tenorio J, Nevado J, Lapunzina P.
    Mol Genet Genomic Med; 2021 May 13; 9(5):e1649. PubMed ID: 33733630
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  • 9. 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 13; 191(7):1814-1825. PubMed ID: 37053206
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  • 10. Novel antenatal presentation of cystic hygroma in a case of Koolen-de Vries syndrome.
    Oakley-Hannibal E, Tyagi V, Das S, Wakeling E, Gardham A.
    Clin Dysmorphol; 2022 Apr 01; 31(2):106-108. PubMed ID: 35045017
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  • 11. Uncommon fundus presentation of Koolen-De Vries Syndrome in a young boy.
    Alomairah H, Ali A, Altemaimi R, Alabduljalil T.
    Ophthalmic Genet; 2024 Apr 01; 45(2):164-166. PubMed ID: 37528764
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  • 17. Total anomalous pulmonary venous drainage in a patient with Koolen syndrome (del17q21.31).
    Osio D, Jain N, Archer N, Turnpenny PD.
    Clin Dysmorphol; 2015 Jul 01; 24(3):132-4. PubMed ID: 25714558
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  • 18. Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review.
    Ciaccio C, Dordoni C, Ritelli M, Colombi M.
    Cytogenet Genome Res; 2016 Jul 01; 150(1):40-45. PubMed ID: 27852077
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  • 19. Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome.
    Brand F, Vijayananth A, Hsieh TC, Schmidt A, Peters S, Mangold E, Cremer K, Bender T, Sivalingam S, Hundertmark H, Knaus A, Engels H, Krawitz PM, Perne C.
    Hum Mutat; 2022 Nov 01; 43(11):1659-1665. PubMed ID: 36104871
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  • 20. Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia.
    Morgan AT, Haaften LV, van Hulst K, Edley C, Mei C, Tan TY, Amor D, Fisher SE, Koolen DA.
    Eur J Hum Genet; 2018 Jan 01; 26(1):75-84. PubMed ID: 29225339
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