Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

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

Year Number of Results
2001 1
2007 3
2008 3
2009 2
2010 1
2011 1
2012 1
2013 2
2014 5
2015 4
2016 6
2017 6
2018 8
2019 12
2020 14
2021 1
Text availability
Article attribute
Article type
Publication date

Search Results

58 results
Results by year
Filters applied: . Clear all
Page 1
Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I. Wakeling EL, et al. Among authors: elbracht m. Nat Rev Endocrinol. 2017 Feb;13(2):105-124. doi: 10.1038/nrendo.2016.138. Epub 2016 Sep 2. Nat Rev Endocrinol. 2017. PMID: 27585961
Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma.
Begemann M, Waszak SM, Robinson GW, Jäger N, Sharma T, Knopp C, Kraft F, Moser O, Mynarek M, Guerrini-Rousseau L, Brugieres L, Varlet P, Pietsch T, Bowers DC, Chintagumpala M, Sahm F, Korbel JO, Rutkowski S, Eggermann T, Gajjar A, Northcott P, Elbracht M, Pfister SM, Kontny U, Kurth I. Begemann M, et al. Among authors: elbracht m. J Clin Oncol. 2020 Jan 1;38(1):43-50. doi: 10.1200/JCO.19.00577. Epub 2019 Oct 14. J Clin Oncol. 2020. PMID: 31609649 Free PMC article.
DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.
Karsai G, Kraft F, Haag N, Korenke GC, Hänisch B, Othman A, Suriyanarayanan S, Steiner R, Knopp C, Mull M, Bergmann M, Schröder JM, Weis J, Elbracht M, Begemann M, Hornemann T, Kurth I. Karsai G, et al. Among authors: elbracht m. J Clin Invest. 2019 Mar 1;129(3):1229-1239. doi: 10.1172/JCI124159. Epub 2019 Feb 11. J Clin Invest. 2019. PMID: 30620338 Free PMC article.
Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences.
Elbracht M, Mackay D, Begemann M, Kagan KO, Eggermann T. Elbracht M, et al. Hum Reprod Update. 2020 Feb 28;26(2):197-213. doi: 10.1093/humupd/dmz045. Hum Reprod Update. 2020. PMID: 32068234 Review.
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.
Begemann M, Rezwan FI, Beygo J, Docherty LE, Kolarova J, Schroeder C, Buiting K, Chokkalingam K, Degenhardt F, Wakeling EL, Kleinle S, González Fassrainer D, Oehl-Jaschkowitz B, Turner CLS, Patalan M, Gizewska M, Binder G, Bich Ngoc CT, Chi Dung V, Mehta SG, Baynam G, Hamilton-Shield JP, Aljareh S, Lokulo-Sodipe O, Horton R, Siebert R, Elbracht M, Temple IK, Eggermann T, Mackay DJG. Begemann M, et al. Among authors: elbracht m. J Med Genet. 2018 Jul;55(7):497-504. doi: 10.1136/jmedgenet-2017-105190. Epub 2018 Mar 24. J Med Genet. 2018. PMID: 29574422 Free PMC article.
Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN).
Eggermann T, Elbracht M, Kurth I, Juul A, Johannsen TH, Netchine I, Mastorakos G, Johannsson G, Musholt TJ, Zenker M, Prawitt D, Pereira AM, Hiort O; European Reference Network on Rare Endocrine Conditions (ENDO-ERN. Eggermann T, et al. Among authors: elbracht m. Orphanet J Rare Dis. 2020 Jun 8;15(1):144. doi: 10.1186/s13023-020-01420-w. Orphanet J Rare Dis. 2020. PMID: 32513286 Free PMC article. Review.
Paroxysmal tonic upgaze: A heterogeneous clinical condition responsive to carbonic anhydrase inhibition.
Quade A, Thiel A, Kurth I, Holtgrewe M, Elbracht M, Beule D, Eggermann K, Scholl UI, Häusler M. Quade A, et al. Among authors: elbracht m. Eur J Paediatr Neurol. 2020 Mar;25:181-186. doi: 10.1016/j.ejpn.2019.11.002. Epub 2019 Nov 20. Eur J Paediatr Neurol. 2020. PMID: 31810576
Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself.
Scheuvens R, Begemann M, Soellner L, Meschede D, Raabe-Meyer G, Elbracht M, Schubert R, Eggermann T. Scheuvens R, et al. Among authors: elbracht m. Clin Genet. 2017 Jul;92(1):45-51. doi: 10.1111/cge.12958. Epub 2017 Mar 8. Clin Genet. 2017. PMID: 28032339
HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence.
Hübner CT, Meyer R, Kenawy A, Ambrozaityte L, Matuleviciene A, Kraft F, Begemann M, Elbracht M, Eggermann T. Hübner CT, et al. Among authors: elbracht m. J Clin Endocrinol Metab. 2020 Jul 1;105(7):dgaa273. doi: 10.1210/clinem/dgaa273. J Clin Endocrinol Metab. 2020. PMID: 32421827
Molecular characterization of temple syndrome families with 14q32 epimutations.
Brück J, Begemann M, Dey D, Elbracht M, Eggermann T. Brück J, et al. Among authors: elbracht m. Eur J Med Genet. 2020 Dec;63(12):104077. doi: 10.1016/j.ejmg.2020.104077. Epub 2020 Sep 30. Eur J Med Genet. 2020. PMID: 33010492
58 results
You have reached the last page of results. A maximum of 10,000 results are available.
Jump to page
Feedback