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1981
2025

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1981 1
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Page 1
"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
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 …
Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature.
Alharbi R, Suchet-Dechaud A, Harzallah I, Touraine R, Ramond F. Alharbi R, et al. Eur J Med Genet. 2024 Jun;69:104948. doi: 10.1016/j.ejmg.2024.104948. Epub 2024 May 10. Eur J Med Genet. 2024. PMID: 38735569 Free article. Review.
We report a 4-year-old girl who initially presented with an isolated ARM, and subsequently developed a global developmental delay as part of an ARID1B-related Coffin-Siris syndrome (CSS). A co-occurrence of ARMs and CSS in an individual by chance is unexpecte …
We report a 4-year-old girl who initially presented with an isolated ARM, and subsequently developed a global developmental delay as part of …
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
ARID2, a rare cause of Coffin-Siris syndrome: A novel microdeletion at 12q12q13.11 causing severe short stature and literature review.
Xia D, Deng S, Gao C, Li X, Zhang L, Xiao X, Peng X, Zhang J, He Z, Meng Z, Liu Z, Ouyang N, Liang L. Xia D, et al. Am J Med Genet A. 2023 May;191(5):1240-1249. doi: 10.1002/ajmg.a.63139. Epub 2023 Feb 9. Am J Med Genet A. 2023. PMID: 36756859 Review.
Coffin-Siris syndrome (CSS) 6 is caused by heterozygous pathogenic variants in the AT-rich interaction domain 2 (ARID2) gene on 12q12. ...In this study, we report a 5-year-7-month-old Chinese female who underwent whole-exome sequencing to discover that she ha
Coffin-Siris syndrome (CSS) 6 is caused by heterozygous pathogenic variants in the AT-rich interaction domain 2 (ARID2)
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. ...Data from these individuals, and a review of the literature, provide evidence that deleterious variants in ARID1B,
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.
Approximately one-third of pediatric malignant rhabdoid tumors are linked to germline SWI/SNF alterations (SMARCB1/INI1, rarely SMARCA4) resulting in occasional familial clustering of these highly aggressive malignancies (so-called rhabdoid tumor predisposition syndrome, RTPS, ty …
Approximately one-third of pediatric malignant rhabdoid tumors are linked to germline SWI/SNF alterations (SMARCB1/INI1, rarely SMARCA4) res …
Magnetically Controlled Growing Rods for Early Scoliosis Treatment in Coffin-Siris Syndrome: Case Report and Literature Review.
Andreozzi V, Princi G, Labianca L, Rinaldi D, Ferretti A. Andreozzi V, et al. Iowa Orthop J. 2021;41(1):55-59. Iowa Orthop J. 2021. PMID: 34552404 Free PMC article. Review.
Coffin-Siris Syndrome (CSS) is a rare, genetic syndrome characterized by multiple anomalies, including scoliosis. ...She was successfully treated with a magnetically controlled growing rod, demonstrating improved ambulatory capacity and performance of activit
Coffin-Siris Syndrome (CSS) is a rare, genetic syndrome characterized by multiple anomalies, including scoliosis. ...Sh
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. We performed a questionnaire study of patients ascertained through an international support group. ...
To clarify the phenotypic variability of Coffin-Siris syndrome, we present a review of the literature and 18 new cases. …
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