152 related articles for article (PubMed ID: 21607748)
21. Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.
Yap CS; Jamuar SS; Lai AHM; Tan ES; Ng I; Ting TW; Tan EC
Gene; 2020 Mar; 731():144360. PubMed ID: 31935506
[TBL] [Abstract][Full Text] [Related]
22. Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.
Luperchio TR; Applegate CD; Bodamer O; Bjornsson HT
Mol Genet Genomic Med; 2020 Feb; 8(2):e1072. PubMed ID: 31814321
[TBL] [Abstract][Full Text] [Related]
23. Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.
Shangguan H; Su C; Ouyang Q; Cao B; Wang J; Gong C; Chen R
Orphanet J Rare Dis; 2019 Nov; 14(1):255. PubMed ID: 31727177
[TBL] [Abstract][Full Text] [Related]
24. A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report.
Moon JE; Lee SJ; Ko CW
BMC Med Genet; 2018 Jun; 19(1):102. PubMed ID: 29914387
[TBL] [Abstract][Full Text] [Related]
25. Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.
Lehman N; Mazery AC; Visier A; Baumann C; Lachesnais D; Capri Y; Toutain A; Odent S; Mikaty M; Goizet C; Taupiac E; Jacquemont ML; Sanchez E; Schaefer E; Gatinois V; Faivre L; Minot D; Kayirangwa H; Sang KLQ; Boddaert N; Bayard S; Lacombe D; Moutton S; Touitou I; Rio M; Amiel J; Lyonnet S; Sanlaville D; Picot MC; Geneviève D
Clin Genet; 2017 Sep; 92(3):298-305. PubMed ID: 28295206
[TBL] [Abstract][Full Text] [Related]
26. Kabuki syndrome: clinical and molecular diagnosis in the first year of life.
Dentici ML; Di Pede A; Lepri FR; Gnazzo M; Lombardi MH; Auriti C; Petrocchi S; Pisaneschi E; Bellacchio E; Capolino R; Braguglia A; Angioni A; Dotta A; Digilio MC; Dallapiccola B
Arch Dis Child; 2015 Feb; 100(2):158-64. PubMed ID: 25281733
[TBL] [Abstract][Full Text] [Related]
27. A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.
Lederer D; Shears D; Benoit V; Verellen-Dumoulin C; Maystadt I
Am J Med Genet A; 2014 May; 164A(5):1289-92. PubMed ID: 24664873
[TBL] [Abstract][Full Text] [Related]
28. Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.
Baldridge D; Spillmann RC; Wegner DJ; Wambach JA; White FV; Sisco K; Toler TL; Dickson PI; Cole FS; Shashi V; Grange DK
Am J Med Genet A; 2020 May; 182(5):1053-1065. PubMed ID: 32083401
[TBL] [Abstract][Full Text] [Related]
29. H3K4 Methyltransferase Activity Is Required for MLL4 Protein Stability.
Jang Y; Wang C; Zhuang L; Liu C; Ge K
J Mol Biol; 2017 Jun; 429(13):2046-2054. PubMed ID: 28013028
[TBL] [Abstract][Full Text] [Related]
30. Disruption of KMT2D perturbs germinal center B cell development and promotes lymphomagenesis.
Zhang J; Dominguez-Sola D; Hussein S; Lee JE; Holmes AB; Bansal M; Vlasevska S; Mo T; Tang H; Basso K; Ge K; Dalla-Favera R; Pasqualucci L
Nat Med; 2015 Oct; 21(10):1190-8. PubMed ID: 26366712
[TBL] [Abstract][Full Text] [Related]
31. The histone lysine methyltransferase KMT2D sustains a gene expression program that represses B cell lymphoma development.
Ortega-Molina A; Boss IW; Canela A; Pan H; Jiang Y; Zhao C; Jiang M; Hu D; Agirre X; Niesvizky I; Lee JE; Chen HT; Ennishi D; Scott DW; Mottok A; Hother C; Liu S; Cao XJ; Tam W; Shaknovich R; Garcia BA; Gascoyne RD; Ge K; Shilatifard A; Elemento O; Nussenzweig A; Melnick AM; Wendel HG
Nat Med; 2015 Oct; 21(10):1199-208. PubMed ID: 26366710
[TBL] [Abstract][Full Text] [Related]
32. A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population.
Faundes V; Malone G; Newman WG; Banka S
J Hum Genet; 2019 Feb; 64(2):161-170. PubMed ID: 30459467
[TBL] [Abstract][Full Text] [Related]
33. From Genotype to Phenotype-A Review of Kabuki Syndrome.
Barry KK; Tsaparlis M; Hoffman D; Hartman D; Adam MP; Hung C; Bodamer OA
Genes (Basel); 2022 Sep; 13(10):. PubMed ID: 36292647
[TBL] [Abstract][Full Text] [Related]
34. Kabuki Syndrome-Clinical Review with Molecular Aspects.
Boniel S; Szymańska K; Śmigiel R; Szczałuba K
Genes (Basel); 2021 Mar; 12(4):. PubMed ID: 33805950
[TBL] [Abstract][Full Text] [Related]
35. A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Cuvertino S; Hartill V; Colyer A; Garner T; Nair N; Al-Gazali L; Canham N; Faundes V; Flinter F; Hertecant J; Holder-Espinasse M; Jackson B; Lynch SA; Nadat F; Narasimhan VM; Peckham M; Sellers R; Seri M; Montanari F; Southgate L; Squeo GM; Trembath R; van Heel D; Venuto S; Weisberg D; Stals K; Ellard S; ; Barton A; Kimber SJ; Sheridan E; Merla G; Stevens A; Johnson CA; Banka S
Genet Med; 2020 May; 22(5):867-877. PubMed ID: 31949313
[TBL] [Abstract][Full Text] [Related]
36. Mll3 and Mll4 Facilitate Enhancer RNA Synthesis and Transcription from Promoters Independently of H3K4 Monomethylation.
Dorighi KM; Swigut T; Henriques T; Bhanu NV; Scruggs BS; Nady N; Still CD; Garcia BA; Adelman K; Wysocka J
Mol Cell; 2017 May; 66(4):568-576.e4. PubMed ID: 28483418
[TBL] [Abstract][Full Text] [Related]
37. Enhancer priming by H3K4 methyltransferase MLL4 controls cell fate transition.
Wang C; Lee JE; Lai B; Macfarlan TS; Xu S; Zhuang L; Liu C; Peng W; Ge K
Proc Natl Acad Sci U S A; 2016 Oct; 113(42):11871-11876. PubMed ID: 27698142
[TBL] [Abstract][Full Text] [Related]
38. Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
Van Laarhoven PM; Neitzel LR; Quintana AM; Geiger EA; Zackai EH; Clouthier DE; Artinger KB; Ming JE; Shaikh TH
Hum Mol Genet; 2015 Aug; 24(15):4443-53. PubMed ID: 25972376
[TBL] [Abstract][Full Text] [Related]
39. Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.
Liu S; Hong X; Shen C; Shi Q; Wang J; Xiong F; Qiu Z
BMC Med Genet; 2015 Apr; 16():26. PubMed ID: 25896430
[TBL] [Abstract][Full Text] [Related]
40. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Richards S; Aziz N; Bale S; Bick D; Das S; Gastier-Foster J; Grody WW; Hegde M; Lyon E; Spector E; Voelkerding K; Rehm HL;
Genet Med; 2015 May; 17(5):405-24. PubMed ID: 25741868
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
