93 related articles for article (PubMed ID: 28190301)
1. Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.
Kline AD; Krantz ID; Deardorff MA; Shirahige K; Dorsett D; Gerton JL; Wu M; Mehta D; Mills JA; Carrico CS; Noon S; Herrera PS; Horsfield JA; Bettale C; Morgan J; Huisman SA; Moss J; McCleery J; Grados M; Hansen BD; Srivastava S; Taylor-Snell E; Kerr LM; Katz O; Calof AL; Musio A; Egense A; Haaland RE
Am J Med Genet A; 2017 May; 173(5):1172-1185. PubMed ID: 28190301
[TBL] [Abstract][Full Text] [Related]
2. Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018.
Kline AD; Krantz ID; Bando M; Shirahige K; Chea S; Sakata T; Rao S; Dorsett D; Singh VP; Gerton JL; Horsfield JA; Calof AL; Katz O; Grados M; Raible S; Barañano K; Lyon G; Musio A; Carrico CS; Clemens DK; Caudill P; Massa V; McGill BE; Dommestrup A; O'Connor J; Haaland RE
Am J Med Genet A; 2019 Jun; 179(6):1080-1090. PubMed ID: 30874362
[TBL] [Abstract][Full Text] [Related]
3. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
Deardorff MA; Kaur M; Yaeger D; Rampuria A; Korolev S; Pie J; Gil-Rodríguez C; Arnedo M; Loeys B; Kline AD; Wilson M; Lillquist K; Siu V; Ramos FJ; Musio A; Jackson LS; Dorsett D; Krantz ID
Am J Hum Genet; 2007 Mar; 80(3):485-94. PubMed ID: 17273969
[TBL] [Abstract][Full Text] [Related]
4. Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin.
Weiss FD; Calderon L; Wang YF; Georgieva R; Guo Y; Cvetesic N; Kaur M; Dharmalingam G; Krantz ID; Lenhard B; Fisher AG; Merkenschlager M
Nat Commun; 2021 May; 12(1):2919. PubMed ID: 34006846
[TBL] [Abstract][Full Text] [Related]
5. Cornelia de Lange Spectrum.
Ascaso Á; Arnedo M; Puisac B; Latorre-Pellicer A; Del Rincón J; Bueno-Lozano G; Pié J; Ramos FJ
An Pediatr (Engl Ed); 2024 May; 100(5):352-362. PubMed ID: 38735830
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
Kline AD; Moss JF; Selicorni A; Bisgaard AM; Deardorff MA; Gillett PM; Ishman SL; Kerr LM; Levin AV; Mulder PA; Ramos FJ; Wierzba J; Ajmone PF; Axtell D; Blagowidow N; Cereda A; Costantino A; Cormier-Daire V; FitzPatrick D; Grados M; Groves L; Guthrie W; Huisman S; Kaiser FJ; Koekkoek G; Levis M; Mariani M; McCleery JP; Menke LA; Metrena A; O'Connor J; Oliver C; Pie J; Piening S; Potter CJ; Quaglio AL; Redeker E; Richman D; Rigamonti C; Shi A; Tümer Z; Van Balkom IDC; Hennekam RC
Nat Rev Genet; 2018 Oct; 19(10):649-666. PubMed ID: 29995837
[TBL] [Abstract][Full Text] [Related]
8. Neurobehavioral and developmental profiles: genotype-phenotype correlations in individuals with Cornelia de Lange syndrome.
Ng R; O'Connor J; Summa D; Kline AD
Orphanet J Rare Dis; 2024 Mar; 19(1):111. PubMed ID: 38462617
[TBL] [Abstract][Full Text] [Related]
9. Double somatic mosaicism in Cornelia de Lange syndrome.
Pezzani L; Pezzoli L; Rosina E; Scatigno A; Cereda A; Lucca C; Bellini M; Marchetti D; Maino M; Mangili G; Selicorni A; Iascone M
Am J Med Genet A; 2024 May; 194(5):e63512. PubMed ID: 38135466
[TBL] [Abstract][Full Text] [Related]
10. Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome.
Lei Z; Song X; Zheng X; Wang Y; Wang Y; Wu Z; Fan T; Dong S; Cao H; Zhao Y; Xia Z; Gao L; Shang Q; Mei S
Mol Genet Genomic Med; 2024 May; 12(5):e2447. PubMed ID: 38733165
[TBL] [Abstract][Full Text] [Related]
11. [Structural maintenance of chromosomes and associated genetic disorders].
Chen K; Shao Y; Shi Y; Qiao J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jun; 41(6):761-768. PubMed ID: 38818566
[TBL] [Abstract][Full Text] [Related]
12. Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
Ansari M; Faour KNW; Shimamura A; Grimes G; Kao EM; Denhoff ER; Blatnik A; Ben-Isvy D; Wang L; Helm BM; Firth H; Breman AM; Bijlsma EK; Iwata-Otsubo A; de Ravel TJL; Fusaro V; Fryer A; Nykamp K; Stühn LG; Haack TB; Korenke GC; Constantinou P; Bujakowska KM; Low KJ; Place E; Humberson J; Napier MP; Hoffman J; Juusola J; Deardorff MA; Shao W; Rockowitz S; Krantz I; Kaur M; Raible S; Dortenzio V; Kliesch S; Singer-Berk M; Groopman E; DiTroia S; Ballal S; Srivastava S; Rothfelder K; Biskup S; Rzasa J; Kerkhof J; McConkey H; Sadikovic B; Hilton S; Banka S; Tüttelmann F; Conrad DF; O'Donnell-Luria A; Talkowski ME; FitzPatrick DR; Boone PM
HGG Adv; 2024 Apr; 5(2):100273. PubMed ID: 38297832
[TBL] [Abstract][Full Text] [Related]
13. Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4.
Lei M; Liang D; Yang Y; Mitsuhashi S; Katoh K; Miyake N; Frith MC; Wu L; Matsumoto N
J Hum Genet; 2020 Aug; 65(8):667-674. PubMed ID: 32296131
[TBL] [Abstract][Full Text] [Related]
14. Cornelia de Lange Syndrome mutations in SMC1A cause cohesion defects in yeast.
Chen J; Floyd EN; Dawson DS; Rankin S
Genetics; 2023 Oct; 225(2):. PubMed ID: 37650609
[TBL] [Abstract][Full Text] [Related]
15. Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in
Abarca-Barriga HH; Punil Luciano R; Vásquez Sotomayor F
Genes (Basel); 2023 Dec; 14(12):. PubMed ID: 38137034
[TBL] [Abstract][Full Text] [Related]
16. Clinical study and genetic analysis of Cornelia de Lange syndrome caused by a novel MAU2 gene variant in a Chinese boy.
Peng Y; Zhu Y; Wu L; Deng F
Mol Genet Genomic Med; 2024 Jan; 12(1):e2318. PubMed ID: 37962004
[TBL] [Abstract][Full Text] [Related]
17. Age-related Behavioural Change in Cornelia de Lange and Cri du Chat Syndromes: A Seven Year Follow-up Study.
Cochran L; Welham A; Oliver C; Arshad A; Moss JF
J Autism Dev Disord; 2019 Jun; 49(6):2476-2487. PubMed ID: 30941551
[TBL] [Abstract][Full Text] [Related]
18. Genetic and genomic analyses of Drosophila melanogaster models of chromatin modification disorders.
MacPherson RA; Shankar V; Anholt RRH; Mackay TFC
Genetics; 2023 Aug; 224(4):. PubMed ID: 37036413
[TBL] [Abstract][Full Text] [Related]
19. Diverse Profiles of Anxiety Related Disorders in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes.
Crawford H; Waite J; Oliver C
J Autism Dev Disord; 2017 Dec; 47(12):3728-3740. PubMed ID: 28144878
[TBL] [Abstract][Full Text] [Related]
20. Advancing the Clinical and Molecular Understanding of Cornelia de Lange Syndrome: A Multidisciplinary Pediatric Case Series and Review of the Literature.
Gruca-Stryjak K; Doda-Nowak E; Dzierla J; Wróbel K; Szymankiewicz-Bręborowicz M; Mazela J
J Clin Med; 2024 Apr; 13(8):. PubMed ID: 38673696
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]