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 NCBI Filters

Results by year

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

Year Number of Results
1988 1
1990 2
1991 3
1992 4
1993 3
1994 2
1995 2
1996 3
1997 3
1998 2
1999 6
2000 2
2001 6
2002 5
2003 8
2004 15
2005 10
2006 8
2007 4
2008 5
2009 10
2010 11
2011 8
2012 7
2013 8
2014 9
2015 8
2016 6
2017 3
2018 5
2019 4
2020 6
2021 4
2022 4
2023 3
2024 3

Text availability

Article attribute

Article type

Publication date

Search Results

179 results

Results by year

Filters applied: . Clear all
Page 1
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource; Warnatz K, Grimbacher B; NIHR BioResource. Lorenzini T, et al. Among authors: bartsch o. J Allergy Clin Immunol. 2020 Oct;146(4):901-911. doi: 10.1016/j.jaci.2019.11.051. Epub 2020 Apr 9. J Allergy Clin Immunol. 2020. PMID: 32278790 Free PMC article.
FGFR1 variants contributed to families with tooth agenesis.
Yao S, Zhou X, Gu M, Zhang C, Bartsch O, Vona B, Fan L, Ma L, Pan Y. Yao S, et al. Among authors: bartsch o. Hum Genomics. 2023 Oct 13;17(1):93. doi: 10.1186/s40246-023-00539-8. Hum Genomics. 2023. PMID: 37833774 Free PMC article.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC. Lacombe D, et al. Among authors: bartsch o. J Med Genet. 2024 May 21;61(6):503-519. doi: 10.1136/jmg-2023-109438. J Med Genet. 2024. PMID: 38471765 Free PMC article. Review.
Redefining the MED13L syndrome.
Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Staropoli JF, Fischer U, Suckow V, Bartsch O, Chess A, Ropers HH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM. Adegbola A, et al. Among authors: bartsch o. Eur J Hum Genet. 2015 Oct;23(10):1308-17. doi: 10.1038/ejhg.2015.26. Epub 2015 Mar 11. Eur J Hum Genet. 2015. PMID: 25758992 Free PMC article.
Familial Williams-Beuren syndrome.
Ounap K, Laidre P, Bartsch O, Rein R, Lipping-Sitska M. Ounap K, et al. Among authors: bartsch o. Am J Med Genet. 1998 Dec 28;80(5):491-3. doi: 10.1002/(sici)1096-8628(19981228)80:5<491::aid-ajmg10>3.0.co;2-j. Am J Med Genet. 1998. PMID: 9880214
Rubinstein-Taybi syndrome (CREBBP, EP300).
van Belzen M, Bartsch O, Lacombe D, Peters DJ, Hennekam RC. van Belzen M, et al. Among authors: bartsch o. Eur J Hum Genet. 2011 Jan;19(1):preceeding 118-20. doi: 10.1038/ejhg.2010.124. Epub 2010 Jul 28. Eur J Hum Genet. 2011. PMID: 20664634 Free PMC article. No abstract available.
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.
Benkirane M, Bonhomme M, Morsy H, Safgren SL, Marelli C, Chaussenot A, Smedley D, Cipriani V, de Sainte-Agathe JM, Ding C, Larrieu L, Vestito L, Margot H, Lesca G, Ramond F, Castrioto A, Baux D, Verheijen J, Sansa E, Giunti P, Haetty A, Bergougnoux A, Pointaux M, Ardouin O, Van Goethem C, Vincent MC, Hadjivassiliou M, Cossée M, Rouaud T, Bartsch O, Freeman WD, Wierenga KJ, Klee EW; Genomic England Research Consortium; Vandrovcova J, Houlden H, Debant A, Koenig M. Benkirane M, et al. Among authors: bartsch o. Brain. 2024 Jun 17:awae193. doi: 10.1093/brain/awae193. Online ahead of print. Brain. 2024. PMID: 38884572
Burning down DEFECT11.
Wuyts W, Van Hul W, Bartsch O, Wilkie AO, Meinecke P. Wuyts W, et al. Among authors: bartsch o. Am J Med Genet. 2001 May 15;100(4):331-5. doi: 10.1002/ajmg.1267. Am J Med Genet. 2001. PMID: 11343325 No abstract available.
Case Report: Targeting of individual somatic tumor mutations by multipeptide vaccination tailored for HLA class I and II presentation induces strong CD4 and CD8 T-cell responses in a patient with metastatic castration sensitive prostate cancer.
Zelba H, Rabsteyn A, Bartsch O, Kyzirakos C, Kayser S, Seibold M, Harter J, Latzer P, Hadaschik D, Battke F, Golf A, Rettig MB, Biskup S. Zelba H, et al. Among authors: bartsch o. Front Immunol. 2023 Oct 18;14:1271449. doi: 10.3389/fimmu.2023.1271449. eCollection 2023. Front Immunol. 2023. PMID: 37920460 Free PMC article.
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
Piard J, Lespinasse J, Vlckova M, Mensah MA, Iurian S, Simandlova M, Malikova M, Bartsch O, Rossi M, Lenoir M, Nugues F, Mundlos S, Kornak U, Stanier P, Sousa SB, Van Maldergem L. Piard J, et al. Among authors: bartsch o. Am J Med Genet A. 2018 Mar;176(3):668-675. doi: 10.1002/ajmg.a.38604. Epub 2018 Jan 17. Am J Med Genet A. 2018. PMID: 29341480 Free PMC article. Review.
179 results