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Quoted phrase not found in phrase index: "Coffin-Siris syndrome 5"
Page 1
Coffin-Siris syndrome and epilepsy.
Curcio MR, Ferranti S, Lotti F, Grosso S. Curcio MR, et al. Neurol Sci. 2021 Feb;42(2):727-729. doi: 10.1007/s10072-020-04782-y. Epub 2020 Oct 2. Neurol Sci. 2021. PMID: 33006724
Coffin-Siris syndrome is a rare genetic disorder defined by the presence of particular facial traits, congenital malformations, intellectual disability, and speech impairment. Epilepsy in Coffin-Siris syndrome has only occasionally been r …
Coffin-Siris syndrome is a rare genetic disorder defined by the presence of particular facial traits, congenital malfor …
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 …
Prenatal diagnosis of Coffin-Siris syndrome: What are the fetal features?
Yu QX, Jing XY, Lin XM, Zhen L, Li DZ. Yu QX, et al. Prenat Diagn. 2022 Nov;42(12):1488-1492. doi: 10.1002/pd.6213. Epub 2022 Jul 18. Prenat Diagn. 2022. PMID: 35801292
OBJECTIVE: To present both our center's and previously reported experience of prenatal diagnosis of Coffin-Siris syndrome (CSS) with regard to the laboratory testing and fetal features of this syndrome. ...Agenesis of the corpus callosum (ACC) was the most co …
OBJECTIVE: To present both our center's and previously reported experience of prenatal diagnosis of Coffin-Siris syndrome …
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Schmetz A, Lüdecke HJ, Surowy H, Sivalingam S, Bruel AL, Caumes R, Charles P, Chatron N, Chrzanowska K, Codina-Solà M, Colson C, Cuscó I, Denommé-Pichon AS, Edery P, Faivre L, Green A, Heide S, Hsieh TC, Hustinx A, Kleinendorst L, Knopp C, Kraft F, Krawitz PM, Lasa-Aranzasti A, Lesca G, López-González V, Maraval J, Mignot C, Neuhann T, Netzer C, Oehl-Jaschkowitz B, Petit F, Philippe C, Posmyk R, Putoux A, Reis A, Sánchez-Soler MJ, Suh J, Tkemaladze T, Tran Mau Them F, Travessa A, Trujillano L, Valenzuela I, van Haelst MM, Vasileiou G, Vincent-Delorme C, Walther M, Verde P, Bramswig NC, Wieczorek D. Schmetz A, et al. Hum Genet. 2024 Jan;143(1):71-84. doi: 10.1007/s00439-023-02622-5. Epub 2023 Dec 20. Hum Genet. 2024. PMID: 38117302
Coffin-Siris syndrome (CSS) is a rare multisystemic autosomal dominant disorder. ...
Coffin-Siris syndrome (CSS) is a rare multisystemic autosomal dominant disorder. ...
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.
Mari F, Marozza A, Mencarelli MA, Lo Rizzo C, Fallerini C, Dosa L, Di Marco C, Carignani G, Baldassarri M, Cianci P, Vivarelli R, Vascotto M, Grosso S, Rubegni P, Caffarelli C, Pretegiani E, Fimiani M, Garavelli L, Cristofoli F, Vermeesch JR, Nuti R, Dotti MT, Balestri P, Hayek J, Selicorni A, Renieri A. Mari F, et al. Brain Dev. 2015 May;37(5):527-36. doi: 10.1016/j.braindev.2014.08.009. Epub 2014 Sep 22. Brain Dev. 2015. PMID: 25249037
A strong clinical suspicion of either Nicolaides-Baraitser syndrome or Coffin-Siris syndrome was proposed in 11 cases who were then molecularly confirmed: 8 having de novo missense mutations in SMARCA2, two frame-shift mutations in ARID1B and one missense mut …
A strong clinical suspicion of either Nicolaides-Baraitser syndrome or Coffin-Siris syndrome was proposed in 11 cases w …
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. ...Microdeletions of the entire ARID2 gene are rare. In this study, we report a 5-year-7-month-old Chinese female who …
Coffin-Siris syndrome (CSS) 6 is caused by heterozygous pathogenic variants in the AT-rich interaction domain 2 (ARID2) …
Expanding the phenotype associated with SMARCC2 variants: a fetus with tetralogy of Fallot.
Sun H, Zhang S, Wang J, Zhou X, Zhang H, Yang H, He Y. Sun H, et al. BMC Med Genomics. 2022 Mar 3;15(1):40. doi: 10.1186/s12920-022-01185-0. BMC Med Genomics. 2022. PMID: 35241061 Free PMC article.
BACKGROUND: Coffin-Siris syndrome-8 (CSS8) is a rare autosomal dominant disorder caused by variants in SMARCC2, a core subunit of the chromatin-remodeling complex BRG1-associated factor (BAF). ...WES analysis revealed a pathogenic, de novo heterozygous frames …
BACKGROUND: Coffin-Siris syndrome-8 (CSS8) is a rare autosomal dominant disorder caused by variants in SMARCC2, a core …
Cognitive and behavioral functioning in Coffin-Siris syndrome and epilepsy: a case presentation.
Bender HA, Zaroff CM, Karantzoulis S, Nakhutina L, MacAllister WS, Luciano D. Bender HA, et al. J Genet Psychol. 2011 Jan-Mar;172(1):56-66. doi: 10.1080/00221325.2010.506604. J Genet Psychol. 2011. PMID: 21452752
The authors characterized the cognitive, adaptive, and behavioral sequelae of Coffin-Siris (CS) syndrome and epilepsy in a 7.5-year-old child. Little is known about the early neurobehavioral presentation of CS. ...
The authors characterized the cognitive, adaptive, and behavioral sequelae of Coffin-Siris (CS) syndrome and epilepsy in a 7.5-year-o …
The Coffin-Siris syndrome: data on mental development, language, behavior and social skills in 12 children.
Swillen A, Glorieux N, Peeters M, Fryns JP. Swillen A, et al. Clin Genet. 1995 Oct;48(4):177-82. doi: 10.1111/j.1399-0004.1995.tb04084.x. Clin Genet. 1995. PMID: 8591667
In this report we present data on cognitive development, language, behavior and social skills in 12 children and adolescents, nine girls and three boys, aged between 2.5 and 19 years, with Coffin-Siris syndrome (CS). 1. Mental retardation was mild in t …
In this report we present data on cognitive development, language, behavior and social skills in 12 children and adolescents, nine girls and …
Identification of a novel de novo mutation in SOX4 for syndromic tooth agenesis.
Zhou M, Wang F, Dai Q, Dou J, Wu Y, Zhu Y. Zhou M, et al. Clin Oral Investig. 2024 Apr 30;28(5):287. doi: 10.1007/s00784-024-05659-6. Clin Oral Investig. 2024. PMID: 38684576
OBJECTIVES: Coffin-Siris Syndrome (CSS) is a congenital disorder characterized by delayed growth, dysmorphic facial features, hypoplastic nails and phalanges of the fifth digit, and dental abnormalities. ...
OBJECTIVES: Coffin-Siris Syndrome (CSS) is a congenital disorder characterized by delayed growth, dysmorphic facial fea …
14 results