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

Year Number of Results
1964 3
1967 1
1969 2
1971 2
1972 1
1973 3
1975 2
1976 5
1977 6
1978 4
1979 2
1980 7
1981 4
1982 5
1983 5
1984 5
1985 5
1986 3
1987 3
1988 6
1989 5
1990 10
1991 12
1992 8
1993 8
1994 9
1995 8
1996 9
1997 5
1998 8
1999 12
2000 10
2001 6
2002 12
2003 20
2004 15
2005 28
2006 18
2007 13
2008 14
2009 18
2010 19
2011 30
2012 20
2013 20
2014 16
2015 23
2016 21
2017 25
2018 20
2019 25
2020 24
2021 31
2022 30
2023 35
2024 17

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619 results

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Page 1
Sotos Syndrome.
Tatton-Brown K, Cole TRP, Rahman N. Tatton-Brown K, et al. 2004 Dec 17 [updated 2022 Dec 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2004 Dec 17 [updated 2022 Dec 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301652 Free Books & Documents. Review.
These three clinical features are considered the cardinal features of Sotos syndrome. Major features of Sotos syndrome include behavioral findings (most notably autistic spectrum disorder), advanced bone age, cardiac anomalies, cranial MRI/CT abnormali …
These three clinical features are considered the cardinal features of Sotos syndrome. Major features of Sotos syndro …
Sotos syndrome.
Tanaka T. Tanaka T. Pediatr Endocrinol Rev. 2014 Sep;12(1):1. Pediatr Endocrinol Rev. 2014. PMID: 25345080 No abstract available.
Sotos syndrome.
Baujat G, Cormier-Daire V. Baujat G, et al. Orphanet J Rare Dis. 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. Orphanet J Rare Dis. 2007. PMID: 17825104 Free PMC article. Review.
Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. ...Germline mo …
Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macr …
Chromatin regulation of transcriptional enhancers and cell fate by the Sotos syndrome gene NSD1.
Sun Z, Lin Y, Islam MT, Koche R, Hedehus L, Liu D, Huang C, Vierbuchen T, Sawyers CL, Helin K. Sun Z, et al. Mol Cell. 2023 Jul 20;83(14):2398-2416.e12. doi: 10.1016/j.molcel.2023.06.007. Epub 2023 Jul 3. Mol Cell. 2023. PMID: 37402365 Free article.
Moreover, NSD1 enables the activation of developmental transcriptional programs associated with Sotos syndrome pathophysiology and controls embryonic stem cell (ESC) multilineage differentiation. Collectively, we have identified NSD1 as an enhancer-acting transcript …
Moreover, NSD1 enables the activation of developmental transcriptional programs associated with Sotos syndrome pathophysiology …
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.
Foster A, Zachariou A, Loveday C, Ashraf T, Blair E, Clayton-Smith J, Dorkins H, Fryer A, Gener B, Goudie D, Henderson A, Irving M, Joss S, Keeley V, Lahiri N, Lynch SA, Mansour S, McCann E, Morton J, Motton N, Murray A, Riches K, Shears D, Stark Z, Thompson E, Vogt J, Wright M, Cole T, Tatton-Brown K. Foster A, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):502-508. doi: 10.1002/ajmg.c.31738. Epub 2019 Sep 3. Am J Med Genet C Semin Med Genet. 2019. PMID: 31479583 Review.
Other associated clinical features include scoliosis, seizures, renal anomalies, and cardiac anomalies. However, many of the published Sotos syndrome clinical descriptions are based on studies of children; the phenotype in adults with Sotos syndrome is …
Other associated clinical features include scoliosis, seizures, renal anomalies, and cardiac anomalies. However, many of the published So …
Sotos syndrome 1 and 2.
Sotos JF. Sotos JF. Pediatr Endocrinol Rev. 2014 Sep;12(1):2-16. Pediatr Endocrinol Rev. 2014. PMID: 25345081 Review.
Sotos syndrome, described in 1964, was characterized by overgrowth, a distinctive craniofacial configuration, and a non-progressive neurological disorder with mental retardation. ...It is a genetic disorder due to haploinsufficiency of the NSD1 gene (Nuclear recepto …
Sotos syndrome, described in 1964, was characterized by overgrowth, a distinctive craniofacial configuration, and a non-progre …
Disrupted epigenetics in the Sotos syndrome neurobehavioral phenotype.
Harris JR, Fahrner JA. Harris JR, et al. Curr Opin Psychiatry. 2019 Mar;32(2):55-59. doi: 10.1097/YCO.0000000000000481. Curr Opin Psychiatry. 2019. PMID: 30601169 Review.
PURPOSE OF REVIEW: Sotos syndrome is among a growing list of disorders resulting from mutations in epigenetic machinery genes. ...SUMMARY: Sotos syndrome is, therefore, a genetic disorder with epigenetic consequences. ...
PURPOSE OF REVIEW: Sotos syndrome is among a growing list of disorders resulting from mutations in epigenetic machinery genes. …
Further delineation of Malan syndrome.
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC. Priolo M, et al. Hum Mutat. 2018 Sep;39(9):1226-1237. doi: 10.1002/humu.23563. Epub 2018 Jun 25. Hum Mutat. 2018. PMID: 29897170 Free PMC article.
We conclude that Malan syndrome has a well recognizable phenotype that usually can be discerned easily from Marshall-Smith syndrome but rarely there is some overlap. Differentiation from Sotos and Weaver syndrome can be made by clinical evaluation only …
We conclude that Malan syndrome has a well recognizable phenotype that usually can be discerned easily from Marshall-Smith syndrom …
Sotos syndrome.
Tatton-Brown K, Rahman N. Tatton-Brown K, et al. Eur J Hum Genet. 2007 Mar;15(3):264-71. doi: 10.1038/sj.ejhg.5201686. Epub 2006 Sep 13. Eur J Hum Genet. 2007. PMID: 16969376
In 2002, Sotos syndrome was shown to be caused by mutations and deletions of NSD1, which encodes a histone methyltransferase implicated in chromatin regulation. More recently, the NSD1 mutational spectrum has been defined, the phenotype of Sotos syndrome …
In 2002, Sotos syndrome was shown to be caused by mutations and deletions of NSD1, which encodes a histone methyltransferase i …
Sotos Syndrome Presenting without Gigantism.
Gowda VK, Nagarajan B, Shivappa SK, Benakappa N. Gowda VK, et al. Indian J Pediatr. 2021 Feb;88(2):169. doi: 10.1007/s12098-020-03406-9. Epub 2020 Jun 16. Indian J Pediatr. 2021. PMID: 32542491 No abstract available.
619 results