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Journal Abstract Search

138 related items for PubMed ID: 35191016

  • 1. The diagnosis of the first-documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome.
    Martorell L, Yubero D, Capdevila EC, Fernández Isern G, Salinas D, Mari Vico R, Rebollo M, Muchart J, Armstrong J, Ortigoza-Escobar JD.
    Clin Genet; 2022 May; 101(5-6):575-576. PubMed ID: 35191016
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  • 2. 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; 173(3):762-765. PubMed ID: 28211987
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  • 4. 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. 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; 43(11):1659-1665. PubMed ID: 36104871
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  • 7. Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review.
    Ciaccio C, Dordoni C, Ritelli M, Colombi M.
    Cytogenet Genome Res; 2016 Nov; 150(1):40-45. PubMed ID: 27852077
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  • 8. Uncommon fundus presentation of Koolen-De Vries Syndrome in a young boy.
    Alomairah H, Ali A, Altemaimi R, Alabduljalil T.
    Ophthalmic Genet; 2024 Apr; 45(2):164-166. PubMed ID: 37528764
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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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  • 13. 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 01; 32(3):324-332. PubMed ID: 38282074
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  • 15. Kansl1 haploinsufficiency impairs autophagosome-lysosome fusion and links autophagic dysfunction with Koolen-de Vries syndrome in mice.
    Li T, Lu D, Yao C, Li T, Dong H, Li Z, Xu G, Chen J, Zhang H, Yi X, Zhu H, Liu G, Wen K, Zhao H, Gao J, Zhang Y, Han Q, Li T, Zhang W, Zhao J, Li T, Bai Z, Song M, He X, Zhou T, Xia Q, Li A, Pan X.
    Nat Commun; 2022 Feb 17; 13(1):931. PubMed ID: 35177641
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  • 19. Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1.
    Bigoni S, Marangi G, Frangella S, Panfili A, Ognibene D, Squeo GM, Merla G, Zollino M.
    Genes (Basel); 2020 Oct 09; 11(10):. PubMed ID: 33050294
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  • 20. 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 09; 60(11):605-609. PubMed ID: 28811189
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