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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1981 1
1991 1
1993 2
1996 1
2000 1
2001 2
2007 1
2012 1
2013 2
2014 6
2016 3
2017 1
2018 3
2019 1
2020 1
2021 4
2022 4
2023 2
2024 0

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33 results

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Page 1
SMARCA4: Implications of an Altered Chromatin-Remodeling Gene for Cancer Development and Therapy.
Mardinian K, Adashek JJ, Botta GP, Kato S, Kurzrock R. Mardinian K, et al. Mol Cancer Ther. 2021 Dec;20(12):2341-2351. doi: 10.1158/1535-7163.MCT-21-0433. Epub 2021 Oct 12. Mol Cancer Ther. 2021. PMID: 34642211 Free PMC article. Review.
Germline variants in the SMARCA4 gene lead to various hereditary conditions: rhabdoid tumor predisposition syndrome-2 (RTPS2), characterized by loss-of-function alterations and aggressive rhabdoid tumors presenting in infants and young children; and Coffin-Siris
Germline variants in the SMARCA4 gene lead to various hereditary conditions: rhabdoid tumor predisposition syndrome-2 (RTPS2), characterized …
"Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma".
Cárcamo B, Masotto B, Baquero-Vaquer A, Ceballos-Saenz D, Zapata-Aldana E. Cárcamo B, et al. Eur J Med Genet. 2022 Nov;65(11):104600. doi: 10.1016/j.ejmg.2022.104600. Epub 2022 Aug 29. Eur J Med Genet. 2022. PMID: 36049608 Review.
Coffin-Siris syndrome (CSS) is a rare neurodevelopmental and multisystemic disorder with wide genetic heterogeneity and phenotypic variability caused by pathogenic variants in the BAF complex with 341 cases enrolled in the CSS/BAF-related disorders registry b
Coffin-Siris syndrome (CSS) is a rare neurodevelopmental and multisystemic disorder with wide genetic heterogeneity and
Epilepsy in Coffin-Siris syndrome: A report from the international CSS registry and review of the literature.
Ciliberto M, Skjei K, Vasko A, Schrier Vergano S. Ciliberto M, et al. Am J Med Genet A. 2023 Jan;191(1):22-28. doi: 10.1002/ajmg.a.62979. Epub 2022 Sep 30. Am J Med Genet A. 2023. PMID: 36177969 Review.
Coffin-Siris syndrome (CSS, MIM135900) is a rare multiple congenital anomaly syndrome caused by pathogenic variants in the BAF complex; up to 28% of patients have previously been reported to have seizures, however, a comprehensive review of epilepsy has not b
Coffin-Siris syndrome (CSS, MIM135900) is a rare multiple congenital anomaly syndrome caused by pathogenic variants in
Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.
Kosho T, Miyake N, Carey JC. Kosho T, et al. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):241-51. doi: 10.1002/ajmg.c.31415. Epub 2014 Aug 28. Am J Med Genet C Semin Med Genet. 2014. PMID: 25169878 Review.
This issue of Seminars in Medical Genetics, American Journal of Medical Genetics Part C investigates the human diseases caused by mutations in the BAF complex (also known as the mammalian SWI/SNF complex) genes, particularly focusing on Coffin-Siris syndrome
This issue of Seminars in Medical Genetics, American Journal of Medical Genetics Part C investigates the human diseases caused by mutations …
Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia.
Gofin Y, Zhao X, Gerard A, Scaglia F, Wangler MF, Schrier Vergano SA, Scott DA. Gofin Y, et al. Am J Med Genet A. 2022 Sep;188(9):2718-2723. doi: 10.1002/ajmg.a.62889. Epub 2022 Jul 7. Am J Med Genet A. 2022. PMID: 35796094 Free PMC article. Review.
Coffin-Siris syndrome (CSS) is an autosomal dominant neurodevelopmental syndrome that can present with a variety of structural birth defects. ...
Coffin-Siris syndrome (CSS) is an autosomal dominant neurodevelopmental syndrome that can present with a variety of str
Hereditary SWI/SNF complex deficiency syndromes.
Agaimy A, Foulkes WD. Agaimy A, et al. Semin Diagn Pathol. 2018 May;35(3):193-198. doi: 10.1053/j.semdp.2018.01.002. Epub 2018 Feb 1. Semin Diagn Pathol. 2018. PMID: 29397238 Review.
Beyond neoplasms, several congenital developmental functional disorders such as Coffin-Siris syndrome and intellectual disability are now known to be SWI/SNF-related. ...
Beyond neoplasms, several congenital developmental functional disorders such as Coffin-Siris syndrome and intellectual …
The Coffin-Siris syndrome. A report of four cases and review of the literature.
Lucaya J, Garcia-Conesa JA, Bosch-Banyeras JM, Pons-Peradejordi G. Lucaya J, et al. Pediatr Radiol. 1981;11(1):35-8. doi: 10.1007/BF00972041. Pediatr Radiol. 1981. PMID: 7019832 Review.
Four additional cases of the Coffin-Siris syndrome bring the number of reported cases to 16. This disorder is characterized by the absence or hypoplasia of the nails, especially those of the fifth fingers and toes, growth retardation and mental deficiency, mi …
Four additional cases of the Coffin-Siris syndrome bring the number of reported cases to 16. This disorder is character …
Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.
Miraldi Utz V, Brightman DS, Sandoval MA, Hufnagel RB, Saal HM. Miraldi Utz V, et al. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):644-655. doi: 10.1002/ajmg.c.31839. Epub 2020 Sep 5. Am J Med Genet C Semin Med Genet. 2020. PMID: 32888375 Free PMC article. Review.
In this review, we describe systemic and ocular manifestations in a child with mosaic Coffin-Siris syndrome. The patient presented with a significant medical history of accommodative esotropia and hyperopia, macrocephaly, polydactyly, global developmental del …
In this review, we describe systemic and ocular manifestations in a child with mosaic Coffin-Siris syndrome. The patien …
First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review.
Diel H, Ding C, Grehn F, Chronopoulos P, Bartsch O, Hoffmann EM. Diel H, et al. BMC Ophthalmol. 2021 Jan 11;21(1):28. doi: 10.1186/s12886-020-01788-0. BMC Ophthalmol. 2021. PMID: 33430815 Free PMC article. Review.
BACKGROUND: Severe congenital ophthalmological malformations and glaucoma might be an important occasional feature in patients with Coffin-Siris syndrome (CSS), especially Coffin-Siris syndrome 9 (CSS9, OMIM #615866) caused by SOX11 mutat …
BACKGROUND: Severe congenital ophthalmological malformations and glaucoma might be an important occasional feature in patients with Coffi
Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study.
Fleck BJ, Pandya A, Vanner L, Kerkering K, Bodurtha J. Fleck BJ, et al. Am J Med Genet. 2001 Feb 15;99(1):1-7. doi: 10.1002/1096-8628(20010215)99:1<1::aid-ajmg1127>3.0.co;2-a. Am J Med Genet. 2001. PMID: 11170086 Review.
To clarify the phenotypic variability of Coffin-Siris syndrome, we present a review of the literature and 18 new cases. ...
To clarify the phenotypic variability of Coffin-Siris syndrome, we present a review of the literature and 18 new cases. …
33 results