BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

226 related articles for article (PubMed ID: 23463723)

  • 21. Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.
    Borja N; Zafeer MF; Rodriguez JA; Morel Swols D; Thorson W; Bademci G; Tekin M
    Am J Med Genet A; 2023 Apr; 191(4):1044-1049. PubMed ID: 36628575
    [TBL] [Abstract][Full Text] [Related]  

  • 22. KBG syndrome.
    Morel Swols D; Foster J; Tekin M
    Orphanet J Rare Dis; 2017 Dec; 12(1):183. PubMed ID: 29258554
    [TBL] [Abstract][Full Text] [Related]  

  • 23. KBG syndrome: 16q24.3 microdeletion in an Indian patient.
    Srivastava P; Gambhir PS; Phadke SR
    Clin Dysmorphol; 2017 Jul; 26(3):161-166. PubMed ID: 28099180
    [No Abstract]   [Full Text] [Related]  

  • 24. KBG syndrome in two patients from Egypt.
    Sayed ISM; Abdel-Hamid MS; Abdel-Salam GMH
    Am J Med Genet A; 2020 Jun; 182(6):1309-1312. PubMed ID: 32222090
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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; 185(3):710-718. PubMed ID: 33354850
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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; 62(8):741-746. PubMed ID: 28250421
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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; 32(9):1429-1438. PubMed ID: 36440975
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
    Alves RM; Uva P; Veiga MF; Oppo M; Zschaber FCR; Porcu G; Porto HP; Persico I; Onano S; Cuccuru G; Atzeni R; Vieira LCN; Pires MVA; Cucca F; Toralles MBP; Angius A; Crisponi L
    BMC Med Genet; 2019 Jan; 20(1):16. PubMed ID: 30642272
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A splice-site variant in ANKRD11 associated with classical KBG syndrome.
    Low KJ; Hills A; Williams M; Duff-Farrier C; McKee S; Smithson SF
    Am J Med Genet A; 2017 Oct; 173(10):2844-2846. PubMed ID: 28815928
    [No Abstract]   [Full Text] [Related]  

  • 30. KBG syndrome involving a single-nucleotide duplication in
    Kleyner R; Malcolmson J; Tegay D; Ward K; Maughan A; Maughan G; Nelson L; Wang K; Robison R; Lyon GJ
    Cold Spring Harb Mol Case Stud; 2016 Nov; 2(6):a001131. PubMed ID: 27900361
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Epilepsy in KBG syndrome.
    Auconi M; Serino D; Digilio MC; Gnazzo M; Conti M; Vigevano F; Fusco L
    Dev Med Child Neurol; 2023 May; 65(5):712-720. PubMed ID: 36196002
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Congenital heart defects in molecularly confirmed KBG syndrome patients.
    Digilio MC; Calcagni G; Gnazzo M; Versacci P; Dentici ML; Capolino R; Sinibaldi L; Baban A; Putotto C; Alfieri P; Unolt M; Lepri FR; Alesi V; Genovese S; Novelli A; Marino B; Dallapiccola B
    Am J Med Genet A; 2022 Apr; 188(4):1149-1159. PubMed ID: 34971082
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review.
    Nardello R; Mangano GD; Antona V; Fontana A; Striano P; Giorgio E; Brusco A; Mangano S; Salpietro V
    Seizure; 2021 Feb; 85():151-154. PubMed ID: 33476899
    [No Abstract]   [Full Text] [Related]  

  • 34. Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
    Peluso F; Caraffi SG; Contrò G; Valeri L; Napoli M; Carboni G; Seth A; Zuntini R; Coccia E; Astrea G; Bisgaard AM; Ivanovski I; Maitz S; Brischoux-Boucher E; Carter MT; Dentici ML; Devriendt K; Bellini M; Digilio MC; Doja A; Dyment DA; Farholt S; Ferreira CR; Wolfe LA; Gahl WA; Gnazzo M; Goel H; Grønborg SW; Hammer T; Iughetti L; Kleefstra T; Koolen DA; Lepri FR; Lemire G; Louro P; McCullagh G; Madeo SF; Milone A; Milone R; Nielsen JEK; Novelli A; Ockeloen CW; Pascarella R; Pippucci T; Ricca I; Robertson SP; Sawyer S; Falkenberg Smeland M; Stegmann S; Stumpel CT; Goel A; Taylor JM; Barbuti D; Soresina A; Bedeschi MF; Battini R; Cavalli A; Fusco C; Iascone M; Van Maldergem L; Venkateswaran S; Zuffardi O; Vergano S; Garavelli L; Bayat A
    J Med Genet; 2023 Nov; 60(12):1224-1234. PubMed ID: 37586838
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
    Sirmaci A; Spiliopoulos M; Brancati F; Powell E; Duman D; Abrams A; Bademci G; Agolini E; Guo S; Konuk B; Kavaz A; Blanton S; Digilio MC; Dallapiccola B; Young J; Zuchner S; Tekin M
    Am J Hum Genet; 2011 Aug; 89(2):289-94. PubMed ID: 21782149
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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; 24(10):2051-2064. PubMed ID: 35833929
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [Analysis of three patients with KBG syndrome and epileptic seizures due to variants of ANKRD11 gene].
    Liu C; Ren X; Wang L; Wei Z; Cao M; Li G; Wu Z; Deng Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 May; 39(5):479-483. PubMed ID: 35598261
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [The first Danish patient with a recognisable genetic KBG syndrome].
    Bayat A; Møller LB; Hjortshøj TD
    Ugeskr Laeger; 2018 Mar; 180(11):. PubMed ID: 29530238
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Electroencephalographic findings in KBG syndrome: a child with novel mutation in ANKRD11 gene.
    Samanta D; Willis E
    Acta Neurol Belg; 2015 Dec; 115(4):779-82. PubMed ID: 25543316
    [No Abstract]   [Full Text] [Related]  

  • 40. A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome.
    Chen J; Xia Z; Zhou Y; Ma X; Wang X; Guo Q
    BMC Med Genomics; 2021 Mar; 14(1):68. PubMed ID: 33653342
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.