194 related articles for article (PubMed ID: 37577627)
1.
Singh M; Spendlove S; Wei A; Bondhus L; Nava A; de L Vitorino FN; Amano S; Lee J; Echeverria G; Gomez D; Garcia BA; Arboleda VA
bioRxiv; 2023 Aug; ():. PubMed ID: 37577627
[TBL] [Abstract][Full Text] [Related]
2. KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster.
Singh M; Spendlove SJ; Wei A; Bondhus LM; Nava AA; de L Vitorino FN; Amano S; Lee J; Echeverria G; Gomez D; Garcia BA; Arboleda VA
Hum Genet; 2023 Dec; 142(12):1705-1720. PubMed ID: 37861717
[TBL] [Abstract][Full Text] [Related]
3. Fetal hepatic calcification in severe KAT6A (Arboleda-Tham) syndrome.
Di Caprio A; Rossi C; Bertucci E; Bedetti L; Bertoncelli N; Miselli F; Corso L; Bondi C; Iughetti L; Berardi A; Lugli L
Eur J Med Genet; 2024 Feb; 67():104906. PubMed ID: 38143025
[TBL] [Abstract][Full Text] [Related]
4. What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo
Bukvic N; Chetta M; Bagnulo R; Leotta V; Pantaleo A; Palumbo O; Palumbo P; Oro M; Rivieccio M; Laforgia N; De Rinaldis M; Rosati A; Kerkhof J; Sadikovic B; Resta N
Genes (Basel); 2023 Jan; 14(1):. PubMed ID: 36672906
[TBL] [Abstract][Full Text] [Related]
5. Clinical manifestations and genetic analysis of a newborn with Arboleda-Tham syndrome.
Zeng F; Yang Y; Xu Z; Wang Z; Ke H; Zhang J; Dong T; Yang W; Wang J
Front Genet; 2022; 13():990098. PubMed ID: 36386811
[TBL] [Abstract][Full Text] [Related]
6. Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay.
Lin YF; Lin TC; Kirby R; Weng HY; Liu YM; Niu DM; Tsai SF; Yang CF
Mol Genet Metab Rep; 2020 Dec; 25():100686. PubMed ID: 33318932
[TBL] [Abstract][Full Text] [Related]
7. Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review.
Bae S; Yang A; Kim J; Lee HJ; Park HK
BMC Med Genomics; 2021 Dec; 14(1):297. PubMed ID: 34930245
[TBL] [Abstract][Full Text] [Related]
8. Diagnosis of Arboleda-Tham syndrome by whole-exome sequencing in an Asian girl with severe developmental delay.
Wang Q; Zhang Y; Li L; Yang N
Mol Genet Genomic Med; 2024 May; 12(5):e2420. PubMed ID: 38773911
[TBL] [Abstract][Full Text] [Related]
9. A
Jiang M; Yang L; Wu J; Xiong F; Li J
Transl Pediatr; 2021 Jun; 10(6):1748-1754. PubMed ID: 34295791
[TBL] [Abstract][Full Text] [Related]
10. Neuropsychological profile associated with KAT6A syndrome: Emergent genotype-phenotype trends.
Ng R; Kalinousky AJ; Harris J
Orphanet J Rare Dis; 2024 May; 19(1):196. PubMed ID: 38741077
[TBL] [Abstract][Full Text] [Related]
11. Pantothenate and L-Carnitine Supplementation Improves Pathological Alterations in Cellular Models of KAT6A Syndrome.
Munuera-Cabeza M; Álvarez-Córdoba M; Suárez-Rivero JM; Povea-Cabello S; Villalón-García I; Talaverón-Rey M; Suárez-Carrillo A; Reche-López D; Cilleros-Holgado P; Piñero-Pérez R; Sánchez-Alcázar JA
Genes (Basel); 2022 Dec; 13(12):. PubMed ID: 36553567
[TBL] [Abstract][Full Text] [Related]
12. Akt1 mediates the posterior Hoxc gene expression through epigenetic modifications in mouse embryonic fibroblasts.
Kong KA; Lee JY; Oh JH; Lee Y; Kim MH
Biochim Biophys Acta; 2014 Sep; 1839(9):793-9. PubMed ID: 24955524
[TBL] [Abstract][Full Text] [Related]
13. Speech and language development and genotype-phenotype correlation in 49 individuals with KAT6A syndrome.
St John M; Amor DJ; Morgan AT
Am J Med Genet A; 2022 Dec; 188(12):3389-3400. PubMed ID: 35892268
[TBL] [Abstract][Full Text] [Related]
14. Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in
Efthymiou S; Salpietro V; Bettencourt C; Houlden H
J Pediatr Genet; 2018 Sep; 7(3):114-116. PubMed ID: 30105118
[TBL] [Abstract][Full Text] [Related]
15. De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.
Arboleda VA; Lee H; Dorrani N; Zadeh N; Willis M; Macmurdo CF; Manning MA; Kwan A; Hudgins L; Barthelemy F; Miceli MC; Quintero-Rivera F; Kantarci S; Strom SP; Deignan JL; ; Grody WW; Vilain E; Nelson SF
Am J Hum Genet; 2015 Mar; 96(3):498-506. PubMed ID: 25728775
[TBL] [Abstract][Full Text] [Related]
16. Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
Tham E; Lindstrand A; Santani A; Malmgren H; Nesbitt A; Dubbs HA; Zackai EH; Parker MJ; Millan F; Rosenbaum K; Wilson GN; Nordgren A
Am J Hum Genet; 2015 Mar; 96(3):507-13. PubMed ID: 25728777
[TBL] [Abstract][Full Text] [Related]
17. Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.
Yan K; Rousseau J; Littlejohn RO; Kiss C; Lehman A; Rosenfeld JA; Stumpel CTR; Stegmann APA; Robak L; Scaglia F; Nguyen TTM; Fu H; Ajeawung NF; Camurri MV; Li L; Gardham A; Panis B; Almannai M; Sacoto MJG; Baskin B; Ruivenkamp C; Xia F; Bi W; ; ; Cho MT; Potjer TP; Santen GWE; Parker MJ; Canham N; McKinnon M; Potocki L; MacKenzie JJ; Roeder ER; Campeau PM; Yang XJ
Am J Hum Genet; 2017 Jan; 100(1):91-104. PubMed ID: 27939640
[TBL] [Abstract][Full Text] [Related]
18. Hoxc gene collinear expression and epigenetic modifications established during embryogenesis are maintained until after birth.
Min H; Lee JY; Kim MH
Int J Biol Sci; 2013; 9(9):960-5. PubMed ID: 24155669
[TBL] [Abstract][Full Text] [Related]
19. DMRscaler: a scale-aware method to identify regions of differential DNA methylation spanning basepair to multi-megabase features.
Bondhus L; Wei A; Arboleda VA
BMC Bioinformatics; 2022 Sep; 23(1):364. PubMed ID: 36064314
[TBL] [Abstract][Full Text] [Related]
20. Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation.
Lin I; Wei A; Awamleh Z; Singh M; Ning A; Herrera A; ; Russell BE; Weksberg R; Arboleda VA
JCI Insight; 2023 May; 8(10):. PubMed ID: 37053013
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
