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Items: 1 to 20 of 382

1.

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. doi: 10.1002/ajmg.a.35739. Epub 2013 Mar 12.

PMID:
23494856
2.

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. doi: 10.3343/alm.2014.34.5.390. Epub 2014 Aug 21.

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. doi: 10.1002/ajmg.a.34436. Epub 2012 Feb 3.

PMID:
22307766
4.

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. doi: 10.1002/ajmg.a.35661. Epub 2013 Mar 5.

PMID:
23463723
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. doi: 10.1016/j.ejmg.2014.11.003. Epub 2014 Nov 20.

PMID:
25464108
6.

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. doi: 10.1016/j.ejmg.2013.01.007. Epub 2013 Jan 29.

PMID:
23369839
7.

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. doi: 10.1002/ajmg.b.32113. Epub 2012 Nov 26.

PMID:
23184435
8.

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. doi: 10.1038/ejhg.2014.253. Epub 2014 Nov 26. Erratum in: Eur J Hum Genet. 2015 Sep;23(9):1270.

9.

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. doi: 10.1002/ajmg.a.36450. Epub 2014 May 16.

PMID:
24838796
10.

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.

Willemsen MH, Fernandez BA, Bacino CA, Gerkes E, de Brouwer AP, Pfundt R, Sikkema-Raddatz B, Scherer SW, Marshall CR, Potocki L, van Bokhoven H, Kleefstra T.

Eur J Hum Genet. 2010 Apr;18(4):429-35. doi: 10.1038/ejhg.2009.192. Epub 2009 Nov 18.

11.

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 12;89(2):289-94. doi: 10.1016/j.ajhg.2011.06.007. Epub 2011 Jul 21.

12.

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.

Walz K, Cohen D, Neilsen PM, Foster J 2nd, Brancati F, Demir K, Fisher R, Moffat M, Verbeek NE, Bjørgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, Lei C, Zhang L, Diaz-Horta O, Young JI, Callen DF, Tekin M.

Hum Genet. 2015 Feb;134(2):181-90. doi: 10.1007/s00439-014-1509-2. Epub 2014 Nov 21.

PMID:
25413698
13.

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. doi: 10.1007/s13760-014-0413-9. Epub 2014 Dec 28. No abstract available.

PMID:
25543316
14.

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. doi: 10.1038/ejhg.2017.49. Epub 2017 Apr 19.

PMID:
28422132
15.

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. doi: 10.1002/ajmg.a.37878. Epub 2016 Sep 8.

PMID:
27605097
16.

Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment.

Reynaert N, Ockeloen CW, Sävendahl L, Beckers D, Devriendt K, Kleefstra T, Carels CE, Grigelioniene G, Nordgren A, Francois I, de Zegher F, Casteels K.

Horm Res Paediatr. 2015;83(5):361-4. doi: 10.1159/000380908. Epub 2015 Apr 1.

PMID:
25833229
17.

Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome.

Spengler S, Oehl-Jaschkowitz B, Begemann M, Hennes P, Zerres K, Eggermann T.

Mol Syndromol. 2013 Jun;4(5):246-9. doi: 10.1159/000351765. Epub 2013 Jun 8.

18.

An unusual case of KBG syndrome with unique oral findings.

Hafiz A, Mufeed A, Ismael M, Alam M.

BMJ Case Rep. 2015 Jul 17;2015. pii: bcr2015210352. doi: 10.1136/bcr-2015-210352.

PMID:
26187867
19.

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.

Crippa M, Rusconi D, Castronovo C, Bestetti I, Russo S, Cereda A, Selicorni A, Larizza L, Finelli P.

Mol Cytogenet. 2015 Mar 26;8:20. doi: 10.1186/s13039-015-0126-7. eCollection 2015.

20.

Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.

Handrigan GR, Chitayat D, Lionel AC, Pinsk M, Vaags AK, Marshall CR, Dyack S, Escobar LF, Fernandez BA, Stegman JC, Rosenfeld JA, Shaffer LG, Goodenberger M, Hodge JC, Cain JE, Babul-Hirji R, Stavropoulos DJ, Yiu V, Scherer SW, Rosenblum ND.

J Med Genet. 2013 Mar;50(3):163-73. doi: 10.1136/jmedgenet-2012-101288. Epub 2013 Jan 18. Erratum in: J Med Genet. 2013 Apr;50(4):270.

PMID:
23335808

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