818 related articles for article (PubMed ID: 28422132)
1. 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]
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. 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]
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; 170(11):2847-2859. PubMed ID: 27605097
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
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; 58(2):86-94. PubMed ID: 25464108
[TBL] [Abstract][Full Text] [Related]
9. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
Ockeloen CW; Willemsen MH; de Munnik S; van Bon BW; de Leeuw N; Verrips A; Kant SG; Jones EA; Brunner HG; van Loon RL; Smeets EE; van Haelst MM; van Haaften G; Nordgren A; Malmgren H; Grigelioniene G; Vermeer S; Louro P; Ramos L; Maal TJ; van Heumen CC; Yntema HG; Carels CE; Kleefstra T
Eur J Hum Genet; 2015 Sep; 23(9):1176-85. PubMed ID: 25424714
[TBL] [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
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]
11. 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]
12. 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]
13. Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature.
Bianchi PM; Bianchi A; Digilio MC; Tucci FM; Sitzia E; De Vincentiis GC
Int J Pediatr Otorhinolaryngol; 2017 Dec; 103():109-112. PubMed ID: 29224748
[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. 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]
16. 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]
17. 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]
18. 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]
19. 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; 176(9):1991-1995. PubMed ID: 30088855
[TBL] [Abstract][Full Text] [Related]
20. De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.
Tunovic S; Barkovich J; Sherr EH; Slavotinek AM
Am J Med Genet A; 2014 Jul; 164A(7):1744-9. PubMed ID: 24838796
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
