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Genetics of Sotos syndrome.
Visser R, Matsumoto N. Visser R, et al. Curr Opin Pediatr. 2003 Dec;15(6):598-606. doi: 10.1097/00008480-200312000-00010. Curr Opin Pediatr. 2003. PMID: 14631206
PURPOSE OF REVIEW: Sotos syndrome (SoS) (OMIM #117550) is a childhood overgrowth syndrome characterized by excessive growth, distinctive craniofacial features, developmental delay, and advanced bone age. ...Furthermore, future prospects in genetic rese …
PURPOSE OF REVIEW: Sotos syndrome (SoS) (OMIM #117550) is a childhood overgrowth syndrome characterized by exces …
Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.
Kurotaki N, Stankiewicz P, Wakui K, Niikawa N, Lupski JR. Kurotaki N, et al. Hum Mol Genet. 2005 Feb 15;14(4):535-42. doi: 10.1093/hmg/ddi050. Epub 2005 Jan 7. Hum Mol Genet. 2005. PMID: 15640245
Sotos syndrome (Sos) is an overgrowth disorder also characterized clinically by mental retardation, specific craniofacial features and advanced bone age. ...We termed these proximal Sos-REP (Sos-PREP, approximately 390 kb) and distal Sos- …
Sotos syndrome (Sos) is an overgrowth disorder also characterized clinically by mental retardation, specific craniofaci …
Sleep disturbances and behavioral symptoms in pediatric Sotos syndrome.
Frattale I, Sarnataro R, Siracusano M, Riccioni A, Galasso C, Valeriani M, Conteduca G, Coviello D, Mazzone L, Moavero R. Frattale I, et al. Front Neurol. 2024 Feb 16;15:1360055. doi: 10.3389/fneur.2024.1360055. eCollection 2024. Front Neurol. 2024. PMID: 38434199 Free PMC article.
BACKGROUND: Sotos syndrome (SoS) is a rare overgrowth genetic disease caused by intragenic mutations or microdeletions of the NSD1 gene located on chromosome 5q35. ...Although patients with SoS are known to have impaired sleep habits, very little data …
BACKGROUND: Sotos syndrome (SoS) is a rare overgrowth genetic disease caused by intragenic mutations or microdeletions …
A longitudinal characterization of the adaptive and behavioral profile in Sotos syndrome.
Siracusano M, Dante C, Sarnataro R, Arturi L, Riccioni A, Carloni E, Cicala M, Gialloreti LE, Galasso C, Conteduca G, Coviello D, Mazzone L. Siracusano M, et al. Am J Med Genet A. 2024 Jun;194(6):e63553. doi: 10.1002/ajmg.a.63553. Epub 2024 Feb 6. Am J Med Genet A. 2024. PMID: 38318994
Delineation of a developmental and behavioral trajectory is a key-topic in the context of a genetic syndrome. Short- and long-term implications concerning school outcome, independent living, and working opportunities are strictly linked to the cognitive and behavioral prof …
Delineation of a developmental and behavioral trajectory is a key-topic in the context of a genetic syndrome. Short- and long-term im …
NSD1 Mutations in Sotos Syndrome Induce Differential Expression of Long Noncoding RNAs, miR646 and Genes Controlling the G2/M Checkpoint.
Conteduca G, Cangelosi D, Coco S, Malacarne M, Baldo C, Arado A, Pinto R, Testa B, Coviello DA. Conteduca G, et al. Life (Basel). 2022 Jul 2;12(7):988. doi: 10.3390/life12070988. Life (Basel). 2022. PMID: 35888078 Free PMC article.
An increasing amount of evidence indicates the critical role of the NSD1 gene in Sotos syndrome (SoS), a rare genetic disease, and in tumors. Molecular mechanisms affected by NSD1 mutations are largely uncharacterized. In order to assess the impact of NSD1 ha …
An increasing amount of evidence indicates the critical role of the NSD1 gene in Sotos syndrome (SoS), a rare genetic d …
Sotos syndrome is associated with deregulation of the MAPK/ERK-signaling pathway.
Visser R, Landman EB, Goeman J, Wit JM, Karperien M. Visser R, et al. PLoS One. 2012;7(11):e49229. doi: 10.1371/journal.pone.0049229. Epub 2012 Nov 14. PLoS One. 2012. PMID: 23155469 Free PMC article.
Sotos syndrome (SoS) is characterized by tall stature, characteristic craniofacial features and mental retardation. ...In addition, a diminished activity state of the MAPK/ERK pathway was demonstrated in SoS. The Ras Interacting Protein 1 (RASIP1) was …
Sotos syndrome (SoS) is characterized by tall stature, characteristic craniofacial features and mental retardation. ... …
Cognitive, adaptive and behavioral profile in Sotos syndrome children with 5q35 microdeletion or intragenic variants.
Siracusano M, Riccioni A, Frattale I, Arturi L, Dante C, Galasso C, Gialloreti LE, Conteduca G, Testa B, Malacarne M, Coviello D, Mazzone L. Siracusano M, et al. Am J Med Genet A. 2023 Jul;191(7):1836-1848. doi: 10.1002/ajmg.a.63211. Epub 2023 Apr 17. Am J Med Genet A. 2023. PMID: 37066965
Sotos syndrome (SoS) is a congenital overgrowth syndrome with variable degree of intellectual disability caused in the 90% of cases by pathogenetic variants of the Nuclear receptor binding SET Domain protein1 (NSD1) gene. ...However, longitudinal studi …
Sotos syndrome (SoS) is a congenital overgrowth syndrome with variable degree of intellectual disability caused …
Sotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem Involvement.
Cerbone M, Clement E, McClatchey M, Dobbin J, Gilbert C, Keane M, Boukhibar L, Williams H, Gagunashvili A, Dattani MT, Hurst J, Shah P. Cerbone M, et al. Horm Res Paediatr. 2019;92(1):64-70. doi: 10.1159/000496545. Epub 2019 Mar 15. Horm Res Paediatr. 2019. PMID: 30879005
Initially described as an uncommon presenting feature of Sotos syndrome (SoS), over the last decades, congenital hyperinsulinaemic hypoglycaemia (CHI) has been increasingly reported in association with this condition. ...Our case describes an extended phenoty …
Initially described as an uncommon presenting feature of Sotos syndrome (SoS), over the last decades, congenital hyperi …
Clinical and molecular heterogeneity in brazilian patients with sotos syndrome.
Vieira GH, Cook MM, Ferreira De Lima RL, Frigério Domingues CE, de Carvalho DR, Soares de Paiva I, Moretti-Ferreira D, Srivastava AK. Vieira GH, et al. Mol Syndromol. 2015 Feb;6(1):32-8. doi: 10.1159/000370169. Epub 2015 Jan 21. Mol Syndromol. 2015. PMID: 25852445 Free PMC article.
Sotos syndrome (SoS) is a multiple anomaly, congenital disorder characterized by overgrowth, macrocephaly, distinctive facial features and variable degree of intellectual disability. ...To estimate the frequency of NSD1 defects in the Brazilian SoS pop …
Sotos syndrome (SoS) is a multiple anomaly, congenital disorder characterized by overgrowth, macrocephaly, distinctive …
Generation of induced pluripotent stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion.
Conteduca G, Baldo C, Arado A, Traverso M, Testa B, Malacarne M, Coviello D, Zara F, Baldassari S. Conteduca G, et al. Stem Cell Res. 2023 Feb;66:103007. doi: 10.1016/j.scr.2022.103007. Epub 2022 Dec 21. Stem Cell Res. 2023. PMID: 36580887 Free article.
Sotos syndrome (SoS) is a neurodevelopmental disorder caused by haploinsufficiency of the NSD1 gene located on chromosome 5 region q35.3. In order to understand the pathogenesis of Sotos syndrome and in view of future therapeutic approaches for …
Sotos syndrome (SoS) is a neurodevelopmental disorder caused by haploinsufficiency of the NSD1 gene located on chromoso …
27 results