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Journal Abstract Search

164 related items for PubMed ID: 38282074

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  • 23. 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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  • 27. 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 09; 26(1):75-84. PubMed ID: 29225339
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  • 29. Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants.
    Siu MT, Butcher DT, Turinsky AL, Cytrynbaum C, Stavropoulos DJ, Walker S, Caluseriu O, Carter M, Lou Y, Nicolson R, Georgiades S, Szatmari P, Anagnostou E, Scherer SW, Choufani S, Brudno M, Weksberg R.
    Clin Epigenetics; 2019 Jul 16; 11(1):103. PubMed ID: 31311581
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  • 30. 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 16; 42(2):186-188. PubMed ID: 33393407
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  • 31. 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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  • 32. 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 22; 191(9):2346-2355. PubMed ID: 37350176
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  • 33. 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 22; 38(7):663-8. PubMed ID: 26897099
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  • 34. Generation of DNA Methylation Signatures and Classification of Variants in Rare Neurodevelopmental Disorders Using EpigenCentral.
    Awamleh Z, Goodman S, Kallurkar P, Wu W, Lu K, Choufani S, Turinsky AL, Weksberg R.
    Curr Protoc; 2022 Nov 22; 2(11):e597. PubMed ID: 36367395
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  • 35. Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.
    Zollino M, Orteschi D, Murdolo M, Lattante S, Battaglia D, Stefanini C, Mercuri E, Chiurazzi P, Neri G, Marangi G.
    Nat Genet; 2012 Apr 29; 44(6):636-8. PubMed ID: 22544367
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  • 36. Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review.
    Ciaccio C, Dordoni C, Ritelli M, Colombi M.
    Cytogenet Genome Res; 2016 Apr 29; 150(1):40-45. PubMed ID: 27852077
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  • 37. Koolen-de Vries Syndrome: a journey from diagnosis to treatments.
    Pfalzer AC, Ivers B, Haynam A, Drake B, Koolen DA, Kasri NN, de Vries BBA, Mefford HC, Morgan A, Bichell TJ, Simon E, Terala A, Myers KA, Point A.
    Ther Adv Rare Dis; 2024 Apr 29; 5():26330040241265414. PubMed ID: 39081270
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  • 38. 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 29; 7(8):e829. PubMed ID: 31250568
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  • 39. 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 29; 60(11):605-609. PubMed ID: 28811189
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  • 40. Correction: 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 29; 32(3):366. PubMed ID: 38355964
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