These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

206 related articles for article (PubMed ID: 34930245)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
    Fan Y; Yin W; Hu B; Kline AD; Zhang VW; Liang D; Sun Y; Wang L; Tang S; Powis Z; Li L; Yan H; Shi Z; Yang X; Chen Y; Wang J; Jiang Y; Tan H; Gu X; Wu L; Yu Y
    Am J Hum Genet; 2018 Sep; 103(3):448-455. PubMed ID: 30122539
    [TBL] [Abstract][Full Text] [Related]  

  • 9.
    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]  

  • 10. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
    DeSanto C; D'Aco K; Araujo GC; Shannon N; ; Vernon H; Rahrig A; Monaghan KG; Niu Z; Vitazka P; Dodd J; Tang S; Manwaring L; Martir-Negron A; Schnur RE; Juusola J; Schroeder A; Pan V; Helbig KL; Friedman B; Shinawi M
    J Med Genet; 2015 Nov; 52(11):754-61. PubMed ID: 26264232
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
    Douglas G; Cho MT; Telegrafi A; Winter S; Carmichael J; Zackai EH; Deardorff MA; Harr M; Williams L; Psychogios A; Erwin AL; Grebe T; Retterer K; Juusola J
    Am J Med Genet A; 2018 Sep; 176(9):1845-1851. PubMed ID: 30055086
    [TBL] [Abstract][Full Text] [Related]  

  • 15. KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
    Kennedy J; Goudie D; Blair E; Chandler K; Joss S; McKay V; Green A; Armstrong R; Lees M; Kamien B; Hopper B; Tan TY; Yap P; Stark Z; Okamoto N; Miyake N; Matsumoto N; Macnamara E; Murphy JL; McCormick E; Hakonarson H; Falk MJ; Li D; Blackburn P; Klee E; Babovic-Vuksanovic D; Schelley S; Hudgins L; Kant S; Isidor B; Cogne B; Bradbury K; Williams M; Patel C; Heussler H; Duff-Farrier C; Lakeman P; Scurr I; Kini U; Elting M; Reijnders M; Schuurs-Hoeijmakers J; Wafik M; Blomhoff A; Ruivenkamp CAL; Nibbeling E; Dingemans AJM; Douine ED; Nelson SF; ; Hempel M; Bierhals T; Lessel D; Johannsen J; Arboleda VA; Newbury-Ecob R
    Genet Med; 2019 Apr; 21(4):850-860. PubMed ID: 30245513
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The clinical spectrum of a nonsense mutation in
    Wang D; He J; Li X; Yan S; Pan L; Wang T; Zhou L; Liu J; Peng X
    J Int Med Res; 2022 Dec; 50(12):3000605221140304. PubMed ID: 36573038
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay.
    Trinh J; Hüning I; Yüksel Z; Baalmann N; Imhoff S; Klein C; Rolfs A; Gillessen-Kaesbach G; Lohmann K
    J Hum Genet; 2018 Sep; 63(9):997-1001. PubMed ID: 29899504
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
    Millan F; Cho MT; Retterer K; Monaghan KG; Bai R; Vitazka P; Everman DB; Smith B; Angle B; Roberts V; Immken L; Nagakura H; DiFazio M; Sherr E; Haverfield E; Friedman B; Telegrafi A; Juusola J; Chung WK; Bale S
    Am J Med Genet A; 2016 Jul; 170(7):1791-8. PubMed ID: 27133397
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.
    Valenzuela I; Codina M; Fernández-Álvarez P; Mur P; Valle L; Tizzano EF; Cuscó I
    Am J Med Genet A; 2020 Nov; 182(11):2742-2745. PubMed ID: 32896090
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in
    Choi GJ; Kim MS; Park H; Kim JY; Choi JM; Lee SM; Jang JH; Cho SY; Jin DK
    Ann Clin Lab Sci; 2020 Nov; 50(6):818-824. PubMed ID: 33334799
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.