360 related articles for article (PubMed ID: 24403048)
1. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Kaiser FJ; Ansari M; Braunholz D; Concepción Gil-Rodríguez M; Decroos C; Wilde JJ; Fincher CT; Kaur M; Bando M; Amor DJ; Atwal PS; Bahlo M; Bowman CM; Bradley JJ; Brunner HG; Clark D; Del Campo M; Di Donato N; Diakumis P; Dubbs H; Dyment DA; Eckhold J; Ernst S; Ferreira JC; Francey LJ; Gehlken U; Guillén-Navarro E; Gyftodimou Y; Hall BD; Hennekam R; Hudgins L; Hullings M; Hunter JM; Yntema H; Innes AM; Kline AD; Krumina Z; Lee H; Leppig K; Lynch SA; Mallozzi MB; Mannini L; McKee S; Mehta SG; Micule I; ; Mohammed S; Moran E; Mortier GR; Moser JA; Noon SE; Nozaki N; Nunes L; Pappas JG; Penney LS; Pérez-Aytés A; Petersen MB; Puisac B; Revencu N; Roeder E; Saitta S; Scheuerle AE; Schindeler KL; Siu VM; Stark Z; Strom SP; Thiese H; Vater I; Willems P; Williamson K; Wilson LC; ; Hakonarson H; Quintero-Rivera F; Wierzba J; Musio A; Gillessen-Kaesbach G; Ramos FJ; Jackson LG; Shirahige K; Pié J; Christianson DW; Krantz ID; Fitzpatrick DR; Deardorff MA
Hum Mol Genet; 2014 Jun; 23(11):2888-900. PubMed ID: 24403048
[TBL] [Abstract][Full Text] [Related]
2. Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders.
Deardorff MA; Porter NJ; Christianson DW
Protein Sci; 2016 Nov; 25(11):1965-1976. PubMed ID: 27576763
[TBL] [Abstract][Full Text] [Related]
3. Biochemical and structural characterization of HDAC8 mutants associated with Cornelia de Lange syndrome spectrum disorders.
Decroos C; Christianson NH; Gullett LE; Bowman CM; Christianson KE; Deardorff MA; Christianson DW
Biochemistry; 2015 Oct; 54(42):6501-13. PubMed ID: 26463496
[TBL] [Abstract][Full Text] [Related]
4. De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Gil-Rodríguez MC; Deardorff MA; Ansari M; Tan CA; Parenti I; Baquero-Montoya C; Ousager LB; Puisac B; Hernández-Marcos M; Teresa-Rodrigo ME; Marcos-Alcalde I; Wesselink JJ; Lusa-Bernal S; Bijlsma EK; Braunholz D; Bueno-Martinez I; Clark D; Cooper NS; Curry CJ; Fisher R; Fryer A; Ganesh J; Gervasini C; Gillessen-Kaesbach G; Guo Y; Hakonarson H; Hopkin RJ; Kaur M; Keating BJ; Kibaek M; Kinning E; Kleefstra T; Kline AD; Kuchinskaya E; Larizza L; Li YR; Liu X; Mariani M; Picker JD; Pié Á; Pozojevic J; Queralt E; Richer J; Roeder E; Sinha A; Scott RH; So J; Wusik KA; Wilson L; Zhang J; Gómez-Puertas P; Casale CH; Ström L; Selicorni A; Ramos FJ; Jackson LG; Krantz ID; Das S; Hennekam RC; Kaiser FJ; FitzPatrick DR; Pié J
Hum Mutat; 2015 Apr; 36(4):454-62. PubMed ID: 25655089
[TBL] [Abstract][Full Text] [Related]
5. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
Deardorff MA; Bando M; Nakato R; Watrin E; Itoh T; Minamino M; Saitoh K; Komata M; Katou Y; Clark D; Cole KE; De Baere E; Decroos C; Di Donato N; Ernst S; Francey LJ; Gyftodimou Y; Hirashima K; Hullings M; Ishikawa Y; Jaulin C; Kaur M; Kiyono T; Lombardi PM; Magnaghi-Jaulin L; Mortier GR; Nozaki N; Petersen MB; Seimiya H; Siu VM; Suzuki Y; Takagaki K; Wilde JJ; Willems PJ; Prigent C; Gillessen-Kaesbach G; Christianson DW; Kaiser FJ; Jackson LG; Hirota T; Krantz ID; Shirahige K
Nature; 2012 Sep; 489(7415):313-7. PubMed ID: 22885700
[TBL] [Abstract][Full Text] [Related]
6. Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.
Helgeson M; Keller-Ramey J; Knight Johnson A; Lee JA; Magner DB; Deml B; Deml J; Hu YY; Li Z; Donato K; Das S; Laframboise R; Tremblay S; Krantz I; Noon S; Hoganson G; Burton J; Schaaf CP; Del Gaudio D
J Hum Genet; 2018 Mar; 63(3):349-356. PubMed ID: 29279609
[TBL] [Abstract][Full Text] [Related]
7. Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.
Parenti I; Gervasini C; Pozojevic J; Wendt KS; Watrin E; Azzollini J; Braunholz D; Buiting K; Cereda A; Engels H; Garavelli L; Glazar R; Graffmann B; Larizza L; Lüdecke HJ; Mariani M; Masciadri M; Pié J; Ramos FJ; Russo S; Selicorni A; Stefanova M; Strom TM; Werner R; Wierzba J; Zampino G; Gillessen-Kaesbach G; Wieczorek D; Kaiser FJ
Clin Genet; 2016 May; 89(5):564-73. PubMed ID: 26671848
[TBL] [Abstract][Full Text] [Related]
8. Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M; Blair J; Devkota B; Fortunato S; Clark D; Lawrence A; Kim J; Do W; Semeo B; Katz O; Mehta D; Yamamoto N; Schindler E; Al Rawi Z; Wallace N; Wilde JJ; McCallum J; Liu J; Xu D; Jackson M; Rentas S; Tayoun AA; Zhe Z; Abdul-Rahman O; Allen B; Angula MA; Anyane-Yeboa K; Argente J; Arn PH; Armstrong L; Basel-Salmon L; Baynam G; Bird LM; Bruegger D; Ch'ng GS; Chitayat D; Clark R; Cox GF; Dave U; DeBaere E; Field M; Graham JM; Gripp KW; Greenstein R; Gupta N; Heidenreich R; Hoffman J; Hopkin RJ; Jones KL; Jones MC; Kariminejad A; Kogan J; Lace B; Leroy J; Lynch SA; McDonald M; Meagher K; Mendelsohn N; Micule I; Moeschler J; Nampoothiri S; Ohashi K; Powell CM; Ramanathan S; Raskin S; Roeder E; Rio M; Rope AF; Sangha K; Scheuerle AE; Schneider A; Shalev S; Siu V; Smith R; Stevens C; Tkemaladze T; Toimie J; Toriello H; Turner A; Wheeler PG; White SM; Young T; Loomes KM; Pipan M; Harrington AT; Zackai E; Rajagopalan R; Conlin L; Deardorff MA; McEldrew D; Pie J; Ramos F; Musio A; Kline AD; Izumi K; Raible SE; Krantz ID
Am J Med Genet A; 2023 Aug; 191(8):2113-2131. PubMed ID: 37377026
[TBL] [Abstract][Full Text] [Related]
9. Compromised structure and function of HDAC8 mutants identified in Cornelia de Lange Syndrome spectrum disorders.
Decroos C; Bowman CM; Moser JA; Christianson KE; Deardorff MA; Christianson DW
ACS Chem Biol; 2014 Sep; 9(9):2157-64. PubMed ID: 25075551
[TBL] [Abstract][Full Text] [Related]
10. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Yuan B; Pehlivan D; Karaca E; Patel N; Charng WL; Gambin T; Gonzaga-Jauregui C; Sutton VR; Yesil G; Bozdogan ST; Tos T; Koparir A; Koparir E; Beck CR; Gu S; Aslan H; Yuregir OO; Al Rubeaan K; Alnaqeb D; Alshammari MJ; Bayram Y; Atik MM; Aydin H; Geckinli BB; Seven M; Ulucan H; Fenercioglu E; Ozen M; Jhangiani S; Muzny DM; Boerwinkle E; Tuysuz B; Alkuraya FS; Gibbs RA; Lupski JR
J Clin Invest; 2015 Feb; 125(2):636-51. PubMed ID: 25574841
[TBL] [Abstract][Full Text] [Related]
11. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
Ansari M; Poke G; Ferry Q; Williamson K; Aldridge R; Meynert AM; Bengani H; Chan CY; Kayserili H; Avci S; Hennekam RC; Lampe AK; Redeker E; Homfray T; Ross A; Falkenberg Smeland M; Mansour S; Parker MJ; Cook JA; Splitt M; Fisher RB; Fryer A; Magee AC; Wilkie A; Barnicoat A; Brady AF; Cooper NS; Mercer C; Deshpande C; Bennett CP; Pilz DT; Ruddy D; Cilliers D; Johnson DS; Josifova D; Rosser E; Thompson EM; Wakeling E; Kinning E; Stewart F; Flinter F; Girisha KM; Cox H; Firth HV; Kingston H; Wee JS; Hurst JA; Clayton-Smith J; Tolmie J; Vogt J; Tatton-Brown K; Chandler K; Prescott K; Wilson L; Behnam M; McEntagart M; Davidson R; Lynch SA; Sisodiya S; Mehta SG; McKee SA; Mohammed S; Holden S; Park SM; Holder SE; Harrison V; McConnell V; Lam WK; Green AJ; Donnai D; Bitner-Glindzicz M; Donnelly DE; Nellåker C; Taylor MS; FitzPatrick DR
J Med Genet; 2014 Oct; 51(10):659-68. PubMed ID: 25125236
[TBL] [Abstract][Full Text] [Related]
12. Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
Mannini L; Cucco F; Quarantotti V; Krantz ID; Musio A
Hum Mutat; 2013 Dec; 34(12):1589-96. PubMed ID: 24038889
[TBL] [Abstract][Full Text] [Related]
13. A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome.
Gao X; Huang Z; Fan Y; Sun Y; Liu H; Wang L; Gu XF; Yu Y
Cell Physiol Biochem; 2018; 47(6):2388-2395. PubMed ID: 29991052
[TBL] [Abstract][Full Text] [Related]
14. Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.
Parenti I; Gervasini C; Pozojevic J; Graul-Neumann L; Azzollini J; Braunholz D; Watrin E; Wendt KS; Cereda A; Cittaro D; Gillessen-Kaesbach G; Lazarevic D; Mariani M; Russo S; Werner R; Krawitz P; Larizza L; Selicorni A; Kaiser FJ
Clin Genet; 2016 Jan; 89(1):74-81. PubMed ID: 25652421
[TBL] [Abstract][Full Text] [Related]
15. Structural analysis of histone deacetylase 8 mutants associated with Cornelia de Lange Syndrome spectrum disorders.
Osko JD; Porter NJ; Decroos C; Lee MS; Watson PR; Raible SE; Krantz ID; Deardorff MA; Christianson DW
J Struct Biol; 2021 Mar; 213(1):107681. PubMed ID: 33316326
[TBL] [Abstract][Full Text] [Related]
16. A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotype.
Wagner VF; Hillman PR; Britt AD; Ray JW; Farach LS
Am J Med Genet A; 2019 May; 179(5):852-856. PubMed ID: 30806031
[TBL] [Abstract][Full Text] [Related]
17. A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome.
Mio C; Passon N; Fogolari F; Cesario C; Novelli A; Pittini C; Damante G
Mol Genet Genomic Med; 2021 Sep; 9(9):e1612. PubMed ID: 34342180
[TBL] [Abstract][Full Text] [Related]
18. Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review.
Liu C; Li X; Cui J; Dong R; Lv Y; Wang D; Zhang H; Li X; Li Z; Ma J; Liu Y; Gai Z
Mol Genet Genomic Med; 2020 Oct; 8(10):e1471. PubMed ID: 32856424
[TBL] [Abstract][Full Text] [Related]
19. A Novel Intragenic Duplication in the
Lucia-Campos C; Valenzuela I; Latorre-Pellicer A; Ros-Pardo D; Gil-Salvador M; Arnedo M; Puisac B; Castells N; Plaja A; Tenes A; Cuscó I; Trujillano L; Ramos FJ; Tizzano EF; Gómez-Puertas P; Pié J
Genes (Basel); 2022 Aug; 13(8):. PubMed ID: 36011323
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
