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253 related items for PubMed ID: 36440975

  • 1. ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.
    Awamleh Z, Choufani S, Cytrynbaum C, Alkuraya FS, Scherer S, Fernandes S, Rosas C, Louro P, Dias P, Neves MT, Sousa SB, Weksberg R.
    Hum Mol Genet; 2023 Apr 20; 32(9):1429-1438. PubMed ID: 36440975
    [Abstract] [Full Text] [Related]

  • 2. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
    de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T.
    Genet Med; 2022 Oct 20; 24(10):2051-2064. PubMed ID: 35833929
    [Abstract] [Full Text] [Related]

  • 3. Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
    Novara F, Rinaldi B, Sisodiya SM, Coppola A, Giglio S, Stanzial F, Benedicenti F, Donaldson A, Andrieux J, Stapleton R, Weber A, Reho P, van Ravenswaaij-Arts C, Kerstjens-Frederikse WS, Vermeesch JR, Devriendt K, Bacino CA, Delahaye A, Maas SM, Iolascon A, Zuffardi O.
    Eur J Hum Genet; 2017 Jun 20; 25(6):694-701. PubMed ID: 28422132
    [Abstract] [Full Text] [Related]

  • 4. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
    Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, Capri Y, Coutton C, Delahaye-Duriez A, Frebourg T, Gatinois V, Guerrot AM, Genevieve D, Lecoquierre F, Jacquette A, Khau Van Kien P, Leheup B, Marlin S, Verloes A, Michaud V, Nadeau G, Mignot C, Parent P, Rossi M, Toutain A, Schaefer E, Thauvin-Robinet C, Van Maldergem L, Thevenon J, Satre V, Perrin L, Vincent-Delorme C, Sorlin A, Missirian C, Villard L, Mancini J, Saugier-Veber P, Philip N.
    Am J Med Genet A; 2016 Nov 20; 170(11):2847-2859. PubMed ID: 27605097
    [Abstract] [Full Text] [Related]

  • 5. Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
    Bestetti I, Crippa M, Sironi A, Tumiatti F, Masciadri M, Smeland MF, Naik S, Murch O, Bonati MT, Spano A, Cattaneo E, Mariani M, Gotta F, Crosti F, Cavalli P, Pantaleoni C, Natacci F, Bedeschi MF, Milani D, Maitz S, Selicorni A, Spaccini L, Peron A, Russo S, Larizza L, Low K, Finelli P.
    Int J Mol Sci; 2022 May 25; 23(11):. PubMed ID: 35682590
    [Abstract] [Full Text] [Related]

  • 6. Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome.
    Sacharow S, Li D, Fan YS, Tekin M.
    Am J Med Genet A; 2012 Mar 25; 158A(3):547-52. PubMed ID: 22307766
    [Abstract] [Full Text] [Related]

  • 7. Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.
    Khalifa M, Stein J, Grau L, Nelson V, Meck J, Aradhya S, Duby J.
    Am J Med Genet A; 2013 Apr 25; 161A(4):835-40. PubMed ID: 23494856
    [Abstract] [Full Text] [Related]

  • 8. A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion.
    Kim HJ, Cho E, Park JB, Im WY, Kim HJ.
    Eur J Med Genet; 2015 Feb 25; 58(2):86-94. PubMed ID: 25464108
    [Abstract] [Full Text] [Related]

  • 9. ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.
    Miyatake S, Okamoto N, Stark Z, Nabetani M, Tsurusaki Y, Nakashima M, Miyake N, Mizuguchi T, Ohtake A, Saitsu H, Matsumoto N.
    J Hum Genet; 2017 Aug 25; 62(8):741-746. PubMed ID: 28250421
    [Abstract] [Full Text] [Related]

  • 10. Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.
    Kutkowska-Kaźmierczak A, Boczar M, Kalka E, Castañeda J, Klapecki J, Pietrzyk A, Barczyk A, Malinowska O, Landowska A, Gambin T, Kowalczyk K, Wiśniowiecka-Kowalnik B, Smyk M, Dawidziuk M, Niepokój K, Paczkowska M, Szyld P, Lipska-Ziętkiewicz B, Szczałuba K, Kostyk E, Runge A, Rutkowska K, Płoski R, Nowakowska B, Bal J, Obersztyn E, Gos M.
    Genes (Basel); 2021 Aug 17; 12(8):. PubMed ID: 34440431
    [Abstract] [Full Text] [Related]

  • 11. New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.
    Chater-Diehl E, Ejaz R, Cytrynbaum C, Siu MT, Turinsky A, Choufani S, Goodman SJ, Abdul-Rahman O, Bedford M, Dorrani N, Engleman K, Flores-Daboub J, Genevieve D, Mendoza-Londono R, Meschino W, Perrin L, Safina N, Townshend S, Scherer SW, Anagnostou E, Piton A, Deardorff M, Brudno M, Chitayat D, Weksberg R.
    BMC Med Genomics; 2019 Jul 09; 12(1):105. PubMed ID: 31288860
    [Abstract] [Full Text] [Related]

  • 12. A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome.
    Lim JH, Seo EJ, Kim YM, Cho HJ, Lee JO, Cheon CK, Yoo HW.
    Ann Lab Med; 2014 Sep 09; 34(5):390-4. PubMed ID: 25187894
    [Abstract] [Full Text] [Related]

  • 13. A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome.
    Miyatake S, Murakami A, Okamoto N, Sakamoto M, Miyake N, Saitsu H, Matsumoto N.
    Am J Med Genet A; 2013 May 09; 161A(5):1073-7. PubMed ID: 23463723
    [Abstract] [Full Text] [Related]

  • 14. 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 09; 32(3):324-332. PubMed ID: 38282074
    [Abstract] [Full Text] [Related]

  • 15. Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.
    He D, Zhang M, Li Y, Liu F, Ban B.
    Orphanet J Rare Dis; 2024 Aug 12; 19(1):292. PubMed ID: 39135054
    [Abstract] [Full Text] [Related]

  • 16. Clinical and genetic aspects of KBG syndrome.
    Low K, Ashraf T, Canham N, Clayton-Smith J, Deshpande C, Donaldson A, Fisher R, Flinter F, Foulds N, Fryer A, Gibson K, Hayes I, Hills A, Holder S, Irving M, Joss S, Kivuva E, Lachlan K, Magee A, McConnell V, McEntagart M, Metcalfe K, Montgomery T, Newbury-Ecob R, Stewart F, Turnpenny P, Vogt J, Fitzpatrick D, Williams M, DDD StudyWellcome Trust Sanger Institute, Cambridgeshire, United Kingdom., Smithson S.
    Am J Med Genet A; 2016 Nov 12; 170(11):2835-2846. PubMed ID: 27667800
    [Abstract] [Full Text] [Related]

  • 17. KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature.
    Choi Y, Choi J, Do H, Hwang S, Seo GH, Choi IH, Keum C, Choi JH, Kang M, Kim GH, Yoo HW, Lee BH.
    Mol Genet Genomic Med; 2023 Apr 12; 11(4):e2127. PubMed ID: 36564961
    [Abstract] [Full Text] [Related]

  • 18. Two loss-of-function ANKRD11 variants in Chinese patients with short stature and a possible molecular pathway.
    Zhang T, Yang Y, Yin X, Wang X, Ni J, Dong Z, Li C, Lu W.
    Am J Med Genet A; 2021 Mar 12; 185(3):710-718. PubMed ID: 33354850
    [Abstract] [Full Text] [Related]

  • 19. A Chinese patient with KBG syndrome and a 9q31.2-33.1 microdeletion.
    Xu M, Zhou H, Yong J, Cong P, Li C, Yu Y, Qi M.
    Eur J Med Genet; 2013 May 12; 56(5):245-50. PubMed ID: 23369839
    [Abstract] [Full Text] [Related]

  • 20. Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.
    De Bernardi ML, Ivanovski I, Caraffi SG, Maini I, Street ME, Bayat A, Zollino M, Lepri FR, Gnazzo M, Errichiello E, Superti-Furga A, Garavelli L.
    Am J Med Genet A; 2018 Sep 12; 176(9):1991-1995. PubMed ID: 30088855
    [Abstract] [Full Text] [Related]

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