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Journal Abstract Search

135 related items for PubMed ID: 38614993

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  • 2. Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype.
    Farnè M, Bernardini L, Capalbo A, Cavarretta G, Torres B, Sanchini M, Fini S, Ferlini A, Bigoni S.
    Am J Med Genet A; 2022 Feb; 188(2):692-707. PubMed ID: 34665525
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  • 3. 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. Koolen-de Vries syndrome associated with continuous spike-wave in sleep.
    Khan AQ, Coorg RK, Gill D, Marini C, Myers KA.
    Epileptic Disord; 2022 Oct 01; 24(5):928-933. PubMed ID: 35811432
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  • 11.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Koolen DA, Morgan A, de Vries BBA.
    ; 1993 Oct 01. PubMed ID: 20301783
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  • 12. 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 01; 24(5):652-9. PubMed ID: 26306646
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  • 15. 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 01; 60(11):605-609. PubMed ID: 28811189
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  • 16. 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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  • 20. 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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