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
1991 1
1993 2
1994 3
1995 3
1996 2
1997 2
1998 6
1999 7
2000 3
2001 5
2002 4
2003 4
2004 7
2005 4
2006 5
2007 7
2008 10
2009 13
2010 11
2011 11
2012 11
2013 11
2014 7
2015 8
2016 3
2017 6
2018 2
2019 5
2020 5
2021 5
2022 12
2023 12
2024 5

Text availability

Article attribute

Article type

Publication date

Search Results

180 results

Results by year

Filters applied: . Clear all
Page 1
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, Angireddy R, Wang XM, Weiss E, Mendoza-Londono R, Dupuis L, Damseh N, Velasco D, Valenzuela I, Codina-Solà M, Ziats C, Have J, Clarkson K, Steel D, Kurian M, Barwick K, Carrasco D, Dagli AI, Nowaczyk MJM, Hančárová M, Bendová Š, Prchalova D, Sedláček Z, Baxová A, Nowak CB, Douglas J, Chung WK, Longo N, Platzer K, Klöckner C, Averdunk L, Wieczorek D, Krey I, Zweier C, Reis A, Balci T, Simon M, Kroes HY, Wiesener A, Vasileiou G, Marinakis NM, Veltra D, Sofocleous C, Kosma K, Traeger Synodinos J, Voudris KA, Vuillaume ML, Gueguen P, Derive N, Colin E, Battault C, Au B, Delatycki M, Wallis M, Gallacher L, Majdoub F, Smal N, Weckhuysen S, Schoonjans AS, Kooy RF, Meuwissen M, Cocanougher BT, Taylor K, Pizoli CE, McDonald MT, James P, Roeder ER, Littlejohn R, Borja NA, Thorson W, King K, Stoeva R, Suerink M, Nibbeling E, Baskin S, L E Guyader G, Kaplan J, Muss C, Carere DA, Bhoj EJK, Bryant LM. Layo-Carris DE, et al. Among authors: traeger synodinos j. Eur J Hum Genet. 2024 Apr 27. doi: 10.1038/s41431-024-01610-1. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38678163 Free article.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Among authors: traeger synodinos j. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Brunet T, Zott B, Lieftüchter V, Lenz D, Schmidt A, Peters P, Kopajtich R, Zaddach M, Zimmermann H, Hüning I, Ballhausen D, Staufner C, Bianzano A, Hughes J, Taylor RW, McFarland R, Devlin A, Mihaljević M, Barišić N, Rohlfs M, Wilfling S, Sondheimer N, Hewson S, Marinakis NM, Kosma K, Traeger-Synodinos J, Elbracht M, Begemann M, Trepels-Kottek S, Hasan D, Scala M, Capra V, Zara F, van der Ven AT, Driemeyer J, Apitz C, Krämer J, Strong A, Hakonarson H, Watson D, Mayr JA, Prokisch H, Meitinger T, Borggraefe I, Spiegler J, Baric I, Paolini M, Gerstl L, Wagner M. Brunet T, et al. Among authors: traeger synodinos j. Genet Med. 2024 Feb;26(2):101013. doi: 10.1016/j.gim.2023.101013. Epub 2023 Nov 1. Genet Med. 2024. PMID: 37924258
Submitting Novel Globin Gene Variants to Hemoglobin.
Harteveld CL, Patrinos GP, Traeger-Synodinos J, Kountouris P, Bento C, Adekile A. Harteveld CL, et al. Among authors: traeger synodinos j. Hemoglobin. 2023 Nov;47(4):135-136. doi: 10.1080/03630269.2023.2258618. Epub 2023 Nov 3. Hemoglobin. 2023. PMID: 37920883 No abstract available.
Aneuploidy in oocytes from women of advanced maternal age: analysis of the causal meiotic errors and impact on embryo development.
Verdyck P, Altarescu G, Santos-Ribeiro S, Vrettou C, Koehler U, Griesinger G, Goossens V, Magli C, Albanese C, Parriego M, Coll L, Ron-El R, Sermon K, Traeger-Synodinos J. Verdyck P, et al. Among authors: traeger synodinos j. Hum Reprod. 2023 Dec 4;38(12):2526-2535. doi: 10.1093/humrep/dead201. Hum Reprod. 2023. PMID: 37814912 Clinical Trial.
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity.
Kekou K, Svingou M, Vogiatzakis N, Nitsa E, Veltra D, Marinakis NM, Tilemis FN, Tzetis M, Mitrakos A, Tsaroucha C, Selenti N, Papadimas GK, Papadopoulos C, Traeger-Synodinos J, Lochmuller H, Sofocleous C. Kekou K, et al. Among authors: traeger synodinos j. Expert Rev Mol Diagn. 2023 Jul-Dec;23(11):999-1010. doi: 10.1080/14737159.2023.2264181. Epub 2023 Oct 24. Expert Rev Mol Diagn. 2023. PMID: 37754746
Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome.
Nikolaou M, Vasilakis IA, Marinakis NM, Tilemis FN, Zellos A, Lykopoulou E, Traeger-Synodinos J, Kanaka-Gantenbein C. Nikolaou M, et al. Among authors: traeger synodinos j. Hormones (Athens). 2023 Sep;22(3):515-520. doi: 10.1007/s42000-023-00468-0. Epub 2023 Jul 26. Hormones (Athens). 2023. PMID: 37493943 Review.
180 results