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The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.
Tatton-Brown K, Zachariou A, Loveday C, Renwick A, Mahamdallie S, Aksglaede L, Baralle D, Barge-Schaapveld D, Blyth M, Bouma M, Breckpot J, Crabb B, Dabir T, Cormier-Daire V, Fauth C, Fisher R, Gener B, Goudie D, Homfray T, Hunter M, Jorgensen A, Kant SG, Kirally-Borri C, Koolen D, Kumar A, Labilloy A, Lees M, Marcelis C, Mercer C, Mignot C, Miller K, Neas K, Newbury-Ecob R, Pilz DT, Posmyk R, Prada C, Ramsey K, Randolph LM, Selicorni A, Shears D, Suri M, Temple IK, Turnpenny P, Val Maldergem L, Varghese V, Veenstra-Knol HE, Yachelevich N, Yates L; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study; Deciphering Developmental Disorders (DDD) Study, Rahman N. Tatton-Brown K, et al. Wellcome Open Res. 2018 Apr 23;3:46. doi: 10.12688/wellcomeopenres.14430.1. eCollection 2018. Wellcome Open Res. 2018. PMID: 29900417 Free PMC article.
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive heterozygous DNMT3
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an ove
Tatton-Brown-Rahman syndrome: cognitive and behavioural phenotypes.
Lane C, Tatton-Brown K, Freeth M. Lane C, et al. Dev Med Child Neurol. 2020 Aug;62(8):993-998. doi: 10.1111/dmcn.14426. Epub 2019 Dec 17. Dev Med Child Neurol. 2020. PMID: 31845314 Free article.
The aim of this case series was to assess and characterize cognitive abilities, autistic traits, and adaptive behaviour in Tatton-Brown-Rahman syndrome (TBRS). The sample included 18 individuals with a clinical and genetic diagnosis of TBRS (11 males, …
The aim of this case series was to assess and characterize cognitive abilities, autistic traits, and adaptive behaviour in Tatton- …
Acromegaly in the setting of Tatton-Brown-Rahman Syndrome.
Hage C, Sabini E, Alsharhan H, Fahrner JA, Beckers A, Daly A, Salvatori R. Hage C, et al. Pituitary. 2020 Apr;23(2):167-170. doi: 10.1007/s11102-019-01019-w. Pituitary. 2020. PMID: 31858400
PURPOSE: Tatton-Brown-Rahman syndrome (TBRS) is a newly defined genetic entity characterized by overgrowth and intellectual disability, resulting from germline mutations in the gene encoding DNA methyltransferase 3 alpha (DNMT3A). Affected individuals …
PURPOSE: Tatton-Brown-Rahman syndrome (TBRS) is a newly defined genetic entity characterized by overgrowth and i …
[Tatton-Brown-Rahman syndrome associated with the DNMT3A gene: a case report and literature review].
Chen M, Li ST, Cai Y, Xiao X, Shi CC, Hao H. Chen M, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2020 Oct;22(10):1114-1118. doi: 10.7499/j.issn.1008-8830.2004078. Zhongguo Dang Dai Er Ke Za Zhi. 2020. PMID: 33059810 Free PMC article. Review. Chinese.
This article reports the clinical and genetic features of a case of Tatton-Brown-Rahman syndrome (TBRS) caused by DNMT3A gene mutation. ...
This article reports the clinical and genetic features of a case of Tatton-Brown-Rahman syndrome (TBRS) caused b …
Tatton-Brown-Rahman syndrome: Six individuals with novel features.
Balci TB, Strong A, Kalish JM, Zackai E, Maris JM, Reilly A, Surrey LF, Wertheim GB, Marcadier JL, Graham GE, Carter MT. Balci TB, et al. Am J Med Genet A. 2020 Apr;182(4):673-680. doi: 10.1002/ajmg.a.61475. Epub 2020 Jan 21. Am J Med Genet A. 2020. PMID: 31961069
Tatton-Brown Rahman syndrome (TBRS) is an overgrowth-intellectual disability syndrome caused by heterozygous variants in DNMT3A. ...
Tatton-Brown Rahman syndrome (TBRS) is an overgrowth-intellectual disability syndrome caused by heterozyg
Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder.
Yokoi T, Enomoto Y, Naruto T, Kurosawa K, Higurashi N. Yokoi T, et al. Hum Genome Var. 2020 May 18;7:15. doi: 10.1038/s41439-020-0102-6. eCollection 2020. Hum Genome Var. 2020. PMID: 32435502 Free PMC article.
Tatton-Brown-Rahman syndrome is a congenital anomaly syndrome that manifests with overgrowth, macrocephaly, and characteristic facial features. This autosomal dominant disease is caused by a germline mutation in DNMT3A. Some patients with this
Tatton-Brown-Rahman syndrome is a congenital anomaly syndrome that manifests with overgrowth, macrocephal
Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.
Okamoto N, Toribe Y, Shimojima K, Yamamoto T. Okamoto N, et al. Am J Med Genet A. 2016 May;170A(5):1339-42. doi: 10.1002/ajmg.a.37588. Epub 2016 Feb 11. Am J Med Genet A. 2016. PMID: 26866722
Tatton-Brown-Rahman syndrome is a new overgrowth syndrome due to DNMT3A (DNA cytosine 5 methyltransferase 3A) mutations. ...He showed moderate ID and distinctive facial gestalt. His clinical features were consistent with those of Tatton-
Tatton-Brown-Rahman syndrome is a new overgrowth syndrome due to DNMT3A (DNA cytosine 5 methyltransferase
The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape.
Weinberg DN, Papillon-Cavanagh S, Chen H, Yue Y, Chen X, Rajagopalan KN, Horth C, McGuire JT, Xu X, Nikbakht H, Lemiesz AE, Marchione DM, Marunde MR, Meiners MJ, Cheek MA, Keogh MC, Bareke E, Djedid A, Harutyunyan AS, Jabado N, Garcia BA, Li H, Allis CD, Majewski J, Lu C. Weinberg DN, et al. Nature. 2019 Sep;573(7773):281-286. doi: 10.1038/s41586-019-1534-3. Epub 2019 Sep 4. Nature. 2019. PMID: 31485078 Free PMC article.
However, the mechanisms that control the establishment and maintenance of intergenic DNA methylation remain poorly understood. Tatton-Brown-Rahman syndrome (TBRS) is a childhood overgrowth disorder that is defined by germline mutations in DNMT3A. TBRS …
However, the mechanisms that control the establishment and maintenance of intergenic DNA methylation remain poorly understood. Tatton
Behavioral and dental management of a patient with Tatton-Brown-Rahman syndrome: Case report.
Paz-Alegría MC, Gómez-Forero D, Osorio-Patiño J, Jaramillo-Echeverry A. Paz-Alegría MC, et al. Spec Care Dentist. 2020 Nov;40(6):597-604. doi: 10.1111/scd.12513. Epub 2020 Aug 20. Spec Care Dentist. 2020. PMID: 32815590
OBJECTIVE: To present a clinical case of a patient with Tatton-Brown-Rahman syndrome, to provide evidence of the importance of supplying patients with appropriate dental care, emphasizing in behavioral management. ...The child began with a definitely n …
OBJECTIVE: To present a clinical case of a patient with Tatton-Brown-Rahman syndrome, to provide evidence of the …
The first case report of medulloblastoma associated with Tatton-Brown-Rahman syndrome.
Sweeney KJ, Mottolese C, Belot A, Szathmari A, Frappaz D, Lesca G, Putoux A, Di Rocco F. Sweeney KJ, et al. Am J Med Genet A. 2019 Jul;179(7):1357-1361. doi: 10.1002/ajmg.a.61180. Epub 2019 May 7. Am J Med Genet A. 2019. PMID: 31066180
Somatic mutations in this gene have been associated with tumorigenesis and are associated with a number of cancers. The recently described Tatton-Brown-Rahman syndrome (TBRS) is due to heterozygous germline mutations in the DNMT3A gene. ...
Somatic mutations in this gene have been associated with tumorigenesis and are associated with a number of cancers. The recently described …
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