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125 related items for PubMed ID: 37350176

  • 1. Clinical and radiological assessment of scoliosis in Koolen-de Vries syndrome.
    Bouman A, Bouwmeester RN, van Vlimmeren LA, Burger P, Mandel JL, de Vries BBA, de Kleuver M, Klein WM, Geelen JM, Koolen DA.
    Am J Med Genet A; 2023 Sep; 191(9):2346-2355. PubMed ID: 37350176
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  • 2. 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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  • 4. 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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  • 5.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Koolen DA, Morgan A, de Vries BBA.
    ; 1993 Feb. PubMed ID: 20301783
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  • 6. 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; 29(9):1418-1423. PubMed ID: 33603161
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  • 10. 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; 42(2):186-188. PubMed ID: 33393407
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  • 12. A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.
    Awamleh Z, Choufani S, Wu W, Rots D, Dingemans AJM, Nadif Kasri N, Boronat S, Ibañez-Mico S, Cuesta Herraiz L, Ferrer I, Martínez Carrascal A, Pérez-Jurado LA, Aznar Lain G, Ortigoza-Escobar JD, de Vries BBA, Koolen DA, Weksberg R.
    Eur J Hum Genet; 2024 Mar; 32(3):324-332. PubMed ID: 38282074
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  • 16. 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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  • 17. 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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  • 20. Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil.
    Nascimento GR, Pinto IP, de Melo AV, da Cruz DM, Ribeiro CL, da Silva CC, da Cruz AD, Minasi LB.
    Mol Syndromol; 2017 May 01; 8(3):155-160. PubMed ID: 28588437
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