Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

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

Year Number of Results
1985 1
1988 1
1993 2
1996 3
1998 1
1999 1
2000 4
2001 3
2002 2
2003 10
2004 8
2005 4
2006 6
2007 7
2008 7
2009 6
2010 4
2011 3
2012 2
2013 13
2014 19
2015 20
2016 18
2017 11
2018 8
2019 13
2020 17
2021 12
2022 15
2023 16
2024 7
2025 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

219 results

Results by year

Filters applied: . Clear all
Your search was processed without automatic term mapping because it retrieved zero results.
Page 1
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.
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 Free PMC article.
An adult patient with Tatton-Brown-Rahman syndrome caused by a novel DNMT3A variant and axonal polyneuropathy.
AlSabah AA, Alsalmi M, Massie R, Bilodeau MC, Campeau PM, McGraw S, D'Agostino MD. AlSabah AA, et al. Am J Med Genet A. 2024 Apr;194(4):e63484. doi: 10.1002/ajmg.a.63484. Epub 2023 Dec 1. Am J Med Genet A. 2024. PMID: 38041495
Tatton-Brown-Rahman syndrome (TBRS) is a rare autosomal dominant overgrowth syndrome first reported in 2014 and caused by pathogenic variants in the DNA methyltransferase 3A (DNMT3A) gene. ...Extensive laboratory and molecular genetic work-up failed to identify alternative …
Tatton-Brown-Rahman syndrome (TBRS) is a rare autosomal dominant overgrowth syndrome first reported in 2014 and caused by pathogenic …
Protein structure-based gene expression signatures.
Rahman R, Zatorski N, Hansen J, Xiong Y, van Hasselt JGC, Sobie EA, Birtwistle MR, Azeloglu EU, Iyengar R, Schlessinger A. Rahman R, et al. Proc Natl Acad Sci U S A. 2021 May 11;118(19):e2014866118. doi: 10.1073/pnas.2014866118. Proc Natl Acad Sci U S A. 2021. PMID: 33941686 Free PMC article.
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.
Tatton-Brown-Rahman syndrome: Novel pathogenic variants and new neuroimaging findings.
Jiménez de la Peña M, Rincón-Pérez I, López-Martín S, Albert J, Martín Fernández-Mayoralas D, Fernández-Perrone AL, Jiménez de Domingo A, Tirado P, Calleja-Pérez B, Porta J, Álvarez S, Fernández-Jaén A. Jiménez de la Peña M, et al. Am J Med Genet A. 2024 Feb;194(2):211-217. doi: 10.1002/ajmg.a.63434. Epub 2023 Oct 5. Am J Med Genet A. 2024. PMID: 37795572
Tatton-Brown-Rahman syndrome (TBRS) or DNMT3A-overgrowth syndrome is characterized by overgrowth and intellectual disability associated with minor dysmorphic features, obesity, and behavioral problems. ...
Tatton-Brown-Rahman syndrome (TBRS) or DNMT3A-overgrowth syndrome is characterized by overgrowth and intellectual disability associat …
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.
Transcriptomic congruence analysis for evaluating model organisms.
Zong W, Rahman T, Zhu L, Zeng X, Zhang Y, Zou J, Liu S, Ren Z, Li JJ, Sibille E, Lee AV, Oesterreich S, Ma T, Tseng GC. Zong W, et al. Proc Natl Acad Sci U S A. 2023 Feb 7;120(6):e2202584120. doi: 10.1073/pnas.2202584120. Epub 2023 Feb 2. Proc Natl Acad Sci U S A. 2023. PMID: 36730203 Free PMC article.
Little effort has been made for an objective quantification and mechanistic exploration of a model organism's resemblance to humans in terms of molecular response under disease or drug treatment. ...
Little effort has been made for an objective quantification and mechanistic exploration of a model organism's resemblance to humans i …
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....
219 results