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Year Number of Results
1980 2
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324 results

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Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.
Kosaki R, Terashima H, Kubota M, Kosaki K. Kosaki R, et al. Am J Med Genet A. 2017 Jan;173(1):250-253. doi: 10.1002/ajmg.a.37995. Epub 2016 Nov 7. Am J Med Genet A. 2017. PMID: 27991732 Review.
Constitutional mutations in the de novo DNA methyltransferase DNMT3A cause a recently identified Tatton-Brown-Rahman overgrowth syndrome (TBRS). Somatically acquired mutations in DNMT3A are causally associated with acute myeloid leukemia (AML), and p.Arg882His represents t …
Constitutional mutations in the de novo DNA methyltransferase DNMT3A cause a recently identified Tatton-Brown-Rahman overgrowth syndr …
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. Sheppard SE, et al. Am J Med Genet A. 2021 Jun;185(6):1649-1665. doi: 10.1002/ajmg.a.62124. Epub 2021 Mar 30. Am J Med Genet A. 2021. PMID: 33783954 Free PMC article.
Sec22b is a critical and nonredundant regulator of plasma cell maintenance.
Bonaud A, Gargowitsch L, Gilbert SM, Rajan E, Canales-Herrerias P, Stockholm D, Rahman NF, Collins MO, Taskiran H, Hill DL, Alloatti A, Alouche N, Balor S, Soldan V, Gillet D, Barbier J, Bachelerie F, Smith KGC, Jellusova J, Bruhns P, Amigorena S, Balabanian K, Linterman MA, Peden AA, Espéli M. Bonaud A, et al. Proc Natl Acad Sci U S A. 2023 Jan 10;120(2):e2213056120. doi: 10.1073/pnas.2213056120. Epub 2023 Jan 3. Proc Natl Acad Sci U S A. 2023. PMID: 36595686 Free PMC article.
Growth pattern of Rahman syndrome.
Takenouchi T, Uehara T, Kosaki K, Mizuno S. Takenouchi T, et al. Am J Med Genet A. 2018 Mar;176(3):712-714. doi: 10.1002/ajmg.a.38616. Epub 2018 Jan 31. Am J Med Genet A. 2018. PMID: 29383847
Considering this complexity in growth, this newly identified condition should be referred to as Rahman syndrome....
Considering this complexity in growth, this newly identified condition should be referred to as Rahman syndrome....
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. ...His clinical features were consistent with those of Tatton-Brown-Rahman syndrome. We suggest that 2p23 microdeletion including DNMT3A may caus …
Tatton-Brown-Rahman syndrome is a new overgrowth syndrome due to DNMT3A (DNA cytosine 5 methyltransferase 3A) mutations. ...His clini …
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 heterozygous variants in DNMT3A. ...
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM Jr, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. Kaur M, et al. Am J Med Genet A. 2023 Aug;191(8):2113-2131. doi: 10.1002/ajmg.a.63247. Epub 2023 Jun 28. Am J Med Genet A. 2023. PMID: 37377026
Residues and contaminants in tea and tea infusions: a review.
Abd El-Aty AM, Choi JH, Rahman MM, Kim SW, Tosun A, Shim JH. Abd El-Aty AM, et al. Food Addit Contam Part A Chem Anal Control Expo Risk Assess. 2014;31(11):1794-804. doi: 10.1080/19440049.2014.958575. Epub 2014 Sep 23. Food Addit Contam Part A Chem Anal Control Expo Risk Assess. 2014. PMID: 25164107 Review.
324 results