158 related articles for article (PubMed ID: 36553533)
1. Expanding the Spectrum of
Lintas C; Bottillo I; Sacco R; Azzarà A; Cassano I; Ciccone MP; Grammatico P; Gurrieri F
Genes (Basel); 2022 Dec; 13(12):. PubMed ID: 36553533
[TBL] [Abstract][Full Text] [Related]
2. Molecular and cellular events linking variants in the histone demethylase KDM5C to the intellectual disability disorder Claes-Jensen syndrome.
Hatch HAM; Secombe J
FEBS J; 2022 Dec; 289(24):7776-7787. PubMed ID: 34536985
[TBL] [Abstract][Full Text] [Related]
3. KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.
Gonçalves TF; Gonçalves AP; Fintelman Rodrigues N; dos Santos JM; Pimentel MM; Santos-Rebouças CB
Eur J Med Genet; 2014 Mar; 57(4):138-44. PubMed ID: 24583395
[TBL] [Abstract][Full Text] [Related]
4. Sexually Dimorphic Alterations in the Transcriptome and Behavior with Loss of Histone Demethylase
Bonefas KM; Vallianatos CN; Raines B; Tronson NC; Iwase S
Cells; 2023 Feb; 12(4):. PubMed ID: 36831303
[TBL] [Abstract][Full Text] [Related]
5. A female case with novel KDM5C heterozygous variation presenting with Claes-Jensen type-like phonotype.
Shen R; Li Y; Liang A; Li S; Yang C; Huang H
BMC Neurol; 2022 Dec; 22(1):491. PubMed ID: 36536324
[TBL] [Abstract][Full Text] [Related]
6. Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in
Schenkel LC; Aref-Eshghi E; Skinner C; Ainsworth P; Lin H; Paré G; Rodenhiser DI; Schwartz C; Sadikovic B
Clin Epigenetics; 2018; 10():21. PubMed ID: 29456765
[TBL] [Abstract][Full Text] [Related]
7. Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
Leonardi E; Aspromonte MC; Drongitis D; Bettella E; Verrillo L; Polli R; McEntagart M; Licchetta L; Dilena R; D'Arrigo S; Ciaccio C; Esposito S; Leuzzi V; Torella A; Baldo D; Lonardo F; Bonato G; Pellegrin S; Stanzial F; Posmyk R; Kaczorowska E; Carecchio M; Gos M; Rzońca-Niewczas S; Miano MG; Murgia A
Eur J Hum Genet; 2023 Feb; 31(2):202-215. PubMed ID: 36434256
[TBL] [Abstract][Full Text] [Related]
8. Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures.
Poeta L; Padula A; Lioi MB; van Bokhoven H; Miano MG
Genes (Basel); 2021 Jul; 12(7):. PubMed ID: 34356104
[TBL] [Abstract][Full Text] [Related]
9. A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report.
Lippa NC; Barua S; Aggarwal V; Pereira E; Bain JM
BMC Neurol; 2021 Sep; 21(1):358. PubMed ID: 34530748
[TBL] [Abstract][Full Text] [Related]
10. Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene.
Coursimault J; Goldenberg A; Nicolas G; Saugier-Veber P; Coutant S; Vincent A; Pouliquen D; Feltin C; Aref-Eshghi E; Sadikovic B; Lecoquierre F
Eur J Med Genet; 2022 Sep; 65(9):104556. PubMed ID: 35781022
[TBL] [Abstract][Full Text] [Related]
11. Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.
Carmignac V; Nambot S; Lehalle D; Callier P; Moortgat S; Benoit V; Ghoumid J; Delobel B; Smol T; Thuillier C; Zordan C; Naudion S; Bienvenu T; Touraine R; Ramond F; Zweier C; Reis A; Kraus C; Nizon M; Cogné B; Verloes A; Tran Mau-Them F; Sorlin A; Jouan T; Duffourd Y; Tisserant E; Philippe C; Vitobello A; Thevenon J; Faivre L; Thauvin-Robinet C
Clin Genet; 2020 Jul; 98(1):43-55. PubMed ID: 32279304
[TBL] [Abstract][Full Text] [Related]
12. De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females.
Scala M; Zonneveld-Huijssoon E; Brienza M; Mecarelli O; van der Hout AH; Zambrelli E; Turner K; Zara F; Peron A; Vignoli A; Striano P
Neurogenetics; 2021 Mar; 22(1):87-94. PubMed ID: 32939676
[TBL] [Abstract][Full Text] [Related]
13. Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.
Poeta L; Padula A; Attianese B; Valentino M; Verrillo L; Filosa S; Shoubridge C; Barra A; Schwartz CE; Christensen J; van Bokhoven H; Helin K; Lioi MB; Collombat P; Gecz J; Altucci L; Di Schiavi E; Miano MG
Hum Mol Genet; 2019 Dec; 28(24):4089-4102. PubMed ID: 31691806
[TBL] [Abstract][Full Text] [Related]
14. Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features.
Fieremans N; Van Esch H; de Ravel T; Van Driessche J; Belet S; Bauters M; Froyen G
Eur J Med Genet; 2015 May; 58(5):324-7. PubMed ID: 25858702
[TBL] [Abstract][Full Text] [Related]
15. Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.
Brookes E; Laurent B; Õunap K; Carroll R; Moeschler JB; Field M; Schwartz CE; Gecz J; Shi Y
Hum Mol Genet; 2015 May; 24(10):2861-72. PubMed ID: 25666439
[TBL] [Abstract][Full Text] [Related]
16. Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability.
Lintas C; Facchiano A; Azzarà A; Cassano I; Tabolacci C; Galasso C; Gurrieri F
Genes (Basel); 2023 Jun; 14(7):. PubMed ID: 37510258
[TBL] [Abstract][Full Text] [Related]
17. Caregiver-reported characteristics of children diagnosed with pathogenic variants in KDM5C.
Hatch HAM; O'Neil MH; Marion RW; Secombe J; Shulman LH
Am J Med Genet A; 2021 Oct; 185(10):2951-2958. PubMed ID: 34089235
[TBL] [Abstract][Full Text] [Related]
18. BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
Scott TM; Guo H; Eichler EE; Rosenfeld JA; Pang K; Liu Z; Lalani S; Bi W; Yang Y; Bacino CA; Streff H; Lewis AM; Koenig MK; Thiffault I; Bellomo A; Everman DB; Jones JR; Stevenson RE; Bernier R; Gilissen C; Pfundt R; Hiatt SM; Cooper GM; Holder JL; Scott DA
Hum Mutat; 2020 May; 41(5):921-925. PubMed ID: 31999386
[TBL] [Abstract][Full Text] [Related]
19. DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation.
Guerra JVS; Oliveira-Santos J; Oliveira DF; Leal GF; Oliveira JRM; Costa SS; Krepischi ACV; Vianna-Morgante AM; Maschietto M
Eur J Med Genet; 2020 Mar; 63(3):103737. PubMed ID: 31419599
[TBL] [Abstract][Full Text] [Related]
20. Mutations in TBR1 gene leads to cortical malformations and intellectual disability.
Vegas N; Cavallin M; Kleefstra T; de Boer L; Philbert M; Maillard C; Boddaert N; Munnich A; Hubert L; Bery A; Besmond C; Bahi-Buisson N
Eur J Med Genet; 2018 Dec; 61(12):759-764. PubMed ID: 30268909
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
