330 related articles for article (PubMed ID: 28166369)
1. Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.
Symonds JD; Joss S; Metcalfe KA; Somarathi S; Cruden J; Devlin AM; Donaldson A; DiDonato N; Fitzpatrick D; Kaiser FJ; Lampe AK; Lees MM; McLellan A; Montgomery T; Mundada V; Nairn L; Sarkar A; Schallner J; Pozojevic J; Parenti I; Tan J; Turnpenny P; Whitehouse WP; ; Zuberi SM
Epilepsia; 2017 Apr; 58(4):565-575. PubMed ID: 28166369
[TBL] [Abstract][Full Text] [Related]
2. A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy.
Oguni H; Nishikawa A; Sato Y; Otani Y; Ito S; Nagata S; Kato M; Hamanaka K; Miyatake S; Matsumoto N
Epilepsy Res; 2019 Sep; 155():106149. PubMed ID: 31185419
[TBL] [Abstract][Full Text] [Related]
3. De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.
Jansen S; Kleefstra T; Willemsen MH; de Vries P; Pfundt R; Hehir-Kwa JY; Gilissen C; Veltman JA; de Vries BB; Vissers LE
Clin Genet; 2016 Nov; 90(5):413-419. PubMed ID: 26752331
[TBL] [Abstract][Full Text] [Related]
4. Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.
Goldstein JH; Tim-Aroon T; Shieh J; Merrill M; Deeb KK; Zhang S; Bass NE; Bedoyan JK
Eur J Med Genet; 2015 Oct; 58(10):562-8. PubMed ID: 26386245
[TBL] [Abstract][Full Text] [Related]
5. SMC1A epilepsy syndrome: clinical data from a large international cohort.
Gibellato E; Cianci P; Mariani M; Parma B; Huisman S; Śmigiel R; Bisgaard AM; Massa V; Gervasini C; Moretti A; Cattoni A; Biondi A; Selicorni A
Am J Med Genet A; 2024 Jul; 194(7):e63577. PubMed ID: 38421079
[TBL] [Abstract][Full Text] [Related]
6. Further Characterization of
Barañano KW; Kimball A; Fong SL; Egense AS; Hudon C; Kline AD
J Child Neurol; 2022 Apr; 37(5):390-396. PubMed ID: 35238682
[TBL] [Abstract][Full Text] [Related]
7. Late-onset cluster seizures and intellectual disability associated with a novel truncation variant in
Elwan M; Fowkes R; Lewis-Smith D; Winder A; Baker MR; Thomas RH
Epilepsy Behav Rep; 2022; 19():100556. PubMed ID: 35712061
[No Abstract] [Full Text] [Related]
8. Phenotypes and genotypes in individuals with SMC1A variants.
Huisman S; Mulder PA; Redeker E; Bader I; Bisgaard AM; Brooks A; Cereda A; Cinca C; Clark D; Cormier-Daire V; Deardorff MA; Diderich K; Elting M; van Essen A; FitzPatrick D; Gervasini C; Gillessen-Kaesbach G; Girisha KM; Hilhorst-Hofstee Y; Hopman S; Horn D; Isrie M; Jansen S; Jespersgaard C; Kaiser FJ; Kaur M; Kleefstra T; Krantz ID; Lakeman P; Landlust A; Lessel D; Michot C; Moss J; Noon SE; Oliver C; Parenti I; Pie J; Ramos FJ; Rieubland C; Russo S; Selicorni A; Tümer Z; Vorstenbosch R; Wenger TL; van Balkom I; Piening S; Wierzba J; Hennekam RC
Am J Med Genet A; 2017 Aug; 173(8):2108-2125. PubMed ID: 28548707
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.
Hoppman-Chaney N; Jang JS; Jen J; Babovic-Vuksanovic D; Hodge JC
Am J Med Genet A; 2012 Jan; 158A(1):193-8. PubMed ID: 22106055
[TBL] [Abstract][Full Text] [Related]
11. Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.
Gervasini C; Russo S; Cereda A; Parenti I; Masciadri M; Azzollini J; Melis D; Aravena T; Doray B; Ferrarini A; Garavelli L; Selicorni A; Larizza L
Am J Med Genet A; 2013 Nov; 161A(11):2909-19. PubMed ID: 24124034
[TBL] [Abstract][Full Text] [Related]
12. SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.
Liu J; Feldman R; Zhang Z; Deardorff MA; Haverfield EV; Kaur M; Li JR; Clark D; Kline AD; Waggoner DJ; Das S; Jackson LG; Krantz ID
Hum Mutat; 2009 Nov; 30(11):1535-42. PubMed ID: 19701948
[TBL] [Abstract][Full Text] [Related]
13. Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.
Lebrun N; Lebon S; Jeannet PY; Jacquemont S; Billuart P; Bienvenu T
Am J Med Genet A; 2015 Dec; 167A(12):3076-81. PubMed ID: 26358754
[TBL] [Abstract][Full Text] [Related]
14. Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.
Marini C; Darra F; Specchio N; Mei D; Terracciano A; Parmeggiani L; Ferrari A; Sicca F; Mastrangelo M; Spaccini L; Canopoli ML; Cesaroni E; Zamponi N; Caffi L; Ricciardelli P; Grosso S; Pisano T; Canevini MP; Granata T; Accorsi P; Battaglia D; Cusmai R; Vigevano F; Dalla Bernardina B; Guerrini R
Epilepsia; 2012 Dec; 53(12):2111-9. PubMed ID: 22946748
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls.
Parenti I; Rovina D; Masciadri M; Cereda A; Azzollini J; Picinelli C; Limongelli G; Finelli P; Selicorni A; Russo S; Gervasini C; Larizza L
Epigenetics; 2014 Jul; 9(7):973-9. PubMed ID: 24756084
[TBL] [Abstract][Full Text] [Related]
17. [Developmental and epileptic encephalopathy 85 caused by SMC1A gene truncating variation: 4 cases report and literature review].
Ye YZ; Duan J; Hu ZQ; Cao DZ; Liao JX; Chen L
Zhonghua Er Ke Za Zhi; 2022 Jun; 60(6):583-587. PubMed ID: 35658367
[No Abstract] [Full Text] [Related]
18. Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.
Mannini L; Liu J; Krantz ID; Musio A
Hum Mutat; 2010 Jan; 31(1):5-10. PubMed ID: 19842212
[TBL] [Abstract][Full Text] [Related]
19. Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.
Wenger TL; Chow P; Randle SC; Rosen A; Birgfeld C; Wrede J; Javid P; King D; Manh V; Hing AV; Albers E
Am J Med Genet A; 2017 Feb; 173(2):414-420. PubMed ID: 28102598
[TBL] [Abstract][Full Text] [Related]
20. SMC1A codon 496 mutations affect the cellular response to genotoxic treatments.
Mannini L; Menga S; Tonelli A; Zanotti S; Bassi MT; Magnani C; Musio A
Am J Med Genet A; 2012 Jan; 158A(1):224-8. PubMed ID: 22140011
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
