218 related articles for article (PubMed ID: 29696793)
1. KBG syndrome patient due to 16q24.3 microdeletion presenting with a paratesticular rhabdoid tumor: Coincidence or cancer predisposition?
Behnert A; Auber B; Steinemann D; Frühwald MC; Huisinga C; Hussein K; Kratz C; Ripperger T
Am J Med Genet A; 2018 Jun; 176(6):1449-1454. PubMed ID: 29696793
[TBL] [Abstract][Full Text] [Related]
2. 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; 161A(4):835-40. PubMed ID: 23494856
[TBL] [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; 25(6):694-701. PubMed ID: 28422132
[TBL] [Abstract][Full Text] [Related]
4. 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; 158A(3):547-52. PubMed ID: 22307766
[TBL] [Abstract][Full Text] [Related]
5. 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; 58(2):86-94. PubMed ID: 25464108
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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; 170(11):2847-2859. PubMed ID: 27605097
[TBL] [Abstract][Full Text] [Related]
8. 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; 161A(5):1073-7. PubMed ID: 23463723
[TBL] [Abstract][Full Text] [Related]
9. 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; 34(5):390-4. PubMed ID: 25187894
[TBL] [Abstract][Full Text] [Related]
10. 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; ; Smithson S
Am J Med Genet A; 2016 Nov; 170(11):2835-2846. PubMed ID: 27667800
[TBL] [Abstract][Full Text] [Related]
11. 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; 56(5):245-50. PubMed ID: 23369839
[TBL] [Abstract][Full Text] [Related]
12. 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
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; 12(8):. PubMed ID: 34440431
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. KBG syndrome: Common and uncommon clinical features based on 31 new patients.
Gnazzo M; Lepri FR; Dentici ML; Capolino R; Pisaneschi E; Agolini E; Rinelli M; Alesi V; Versacci P; Genovese S; Cesario C; Sinibaldi L; Baban A; Bartuli A; Marino B; Cappa M; Dallapiccola B; Novelli A; Digilio MC
Am J Med Genet A; 2020 May; 182(5):1073-1083. PubMed ID: 32124548
[TBL] [Abstract][Full Text] [Related]
15. ANKRD11 variants: KBG syndrome and beyond.
Parenti I; Mallozzi MB; Hüning I; Gervasini C; Kuechler A; Agolini E; Albrecht B; Baquero-Montoya C; Bohring A; Bramswig NC; Busche A; Dalski A; Guo Y; Hanker B; Hellenbroich Y; Horn D; Innes AM; Leoni C; Li YR; Lynch SA; Mariani M; Medne L; Mikat B; Milani D; Onesimo R; Ortiz-Gonzalez X; Prott EC; Reutter H; Rossier E; Selicorni A; Wieacker P; Wilkens A; Wieczorek D; Zackai EH; Zampino G; Zirn B; Hakonarson H; Deardorff MA; Gillessen-Kaesbach G; Kaiser FJ
Clin Genet; 2021 Aug; 100(2):187-200. PubMed ID: 33955014
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.
Lo-Castro A; Brancati F; Digilio MC; Garaci FG; Bollero P; Alfieri P; Curatolo P
Am J Med Genet B Neuropsychiatr Genet; 2013 Jan; 162B(1):17-23. PubMed ID: 23184435
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
