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Items: 1 to 20 of 160

1.

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.

PMID:
23463723
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.

3.

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.

PMID:
23494856
4.

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.

PMID:
25464108
5.

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.

PMID:
23369839
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;158A(3):547-52. doi: 10.1002/ajmg.a.34436.

PMID:
22307766
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.

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. 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.

PMID:
24838796
10.

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.

11.

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. No abstract available.

PMID:
25543316
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.

PMID:
25413698
13.

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
14.

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.

15.

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.

PMID:
25833229
16.

KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria.

Skjei KL, Martin MM, Slavotinek AM.

Am J Med Genet A. 2007 Feb 1;143A(3):292-300. Review.

PMID:
17230487
17.

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

Becker K, Di Donato N, Holder-Espinasse M, Andrieux J, Cuisset JM, Vallée L, Plessis G, Jean N, Delobel B, Thuresson AC, Annerén G, Ravn K, Tümer Z, Tinschert S, Schrock E, Jønch AE, Hackmann K.

Eur J Med Genet. 2012 Aug-Sep;55(8-9):490-7. doi: 10.1016/j.ejmg.2012.03.003. Review.

PMID:
22561202
18.

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.

PMID:
27605097
19.

Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15.

Hancarova M, Vejvalkova S, Trkova M, Drabova J, Dleskova A, Vlckova M, Sedlacek Z.

Gene. 2013 Mar 1;516(1):158-61. doi: 10.1016/j.gene.2012.12.027.

PMID:
23266801
20.

The KBG syndrome: an additional sporadic case.

Mathieu M, Helou M, Morin G, Dolhem P, Devauchelle B, Piussan C.

Genet Couns. 2000;11(1):33-5.

PMID:
10756425
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