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2005 1
2007 2
2008 1
2009 1
2011 1
2014 1
2021 3
2023 2
2024 0

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Page 1
Epigenetic differences arise during the lifetime of monozygotic twins.
Fraga MF, Ballestar E, Paz MF, Ropero S, Setien F, Ballestar ML, Heine-Suñer D, Cigudosa JC, Urioste M, Benitez J, Boix-Chornet M, Sanchez-Aguilera A, Ling C, Carlsson E, Poulsen P, Vaag A, Stephan Z, Spector TD, Wu YZ, Plass C, Esteller M. Fraga MF, et al. Among authors: heine suner d. Proc Natl Acad Sci U S A. 2005 Jul 26;102(30):10604-9. doi: 10.1073/pnas.0500398102. Epub 2005 Jul 11. Proc Natl Acad Sci U S A. 2005. PMID: 16009939 Free PMC article.
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Lecca M, Pehlivan D, Suñer DH, Weiss K, Coste T, Zweier M, Oktay Y, Danial-Farran N, Rosti V, Bonasoni MP, Malara A, Contrò G, Zuntini R, Pollazzon M, Pascarella R, Neri A, Fusco C, Marafi D, Mitani T, Posey JE, Bayramoglu SE, Gezdirici A, Hernandez-Rodriguez J, Cladera EA, Miravet E, Roldan-Busto J, Ruiz MA, Bauzá CV, Ben-Sira L, Sigaudy S, Begemann A, Unger S, Güngör S, Hiz S, Sonmezler E, Zehavi Y, Jerdev M, Balduini A, Zuffardi O, Horvath R, Lochmüller H, Rauch A, Garavelli L, Tournier-Lasserve E, Spiegel R, Lupski JR, Errichiello E. Lecca M, et al. Among authors: suner dh. Am J Hum Genet. 2023 Apr 6;110(4):681-690. doi: 10.1016/j.ajhg.2023.03.005. Epub 2023 Mar 29. Am J Hum Genet. 2023. PMID: 36996813 Free PMC article.
A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.
Fernández L, Nevado J, Santos F, Heine-Suñer D, Martinez-Glez V, García-Miñaur S, Palomo R, Delicado A, Pajares IL, Palomares M, García-Guereta L, Valverde E, Hawkins F, Lapunzina P. Fernández L, et al. Among authors: heine suner d. BMC Med Genet. 2009 Jun 2;10:48. doi: 10.1186/1471-2350-10-48. BMC Med Genet. 2009. PMID: 19490635 Free PMC article. Review.
The conserved ASTN2/BRINP1 locus at 9q33.1-33.2 is associated with major psychiatric disorders in a large pedigree from Southern Spain.
Pol-Fuster J, Cañellas F, Ruiz-Guerra L, Medina-Dols A, Bisbal-Carrió B, Ortega-Vila B, Llinàs J, Hernandez-Rodriguez J, Lladó J, Olmos G, Strauch K, Heine-Suñer D, Vives-Bauzà C, Flaquer A. Pol-Fuster J, et al. Among authors: heine suner d. Sci Rep. 2021 Jul 15;11(1):14529. doi: 10.1038/s41598-021-93555-4. Sci Rep. 2021. PMID: 34267256 Free PMC article.
Familial Psychosis Associated With a Missense Mutation at MACF1 Gene Combined With the Rare Duplications DUP3p26.3 and DUP16q23.3, Affecting the CNTN6 and CDH13 Genes.
Pol-Fuster J, Cañellas F, Ruiz-Guerra L, Medina-Dols A, Bisbal-Carrió B, Asensio V, Ortega-Vila B, Marzese D, Vidal C, Santos C, Lladó J, Olmos G, Heine-Suñer D, Strauch K, Flaquer A, Vives-Bauzà C. Pol-Fuster J, et al. Among authors: heine suner d. Front Genet. 2021 Apr 7;12:622886. doi: 10.3389/fgene.2021.622886. eCollection 2021. Front Genet. 2021. PMID: 33897758 Free PMC article.
Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.
Barca-Tierno V, Aza-Carmona M, Barroso E, Heine-Suner D, Azmanov D, Rosell J, Ezquieta B, Montané LS, Vendrell T, Cruz J, Santos F, Rodríguez JI, Pozo J, Argente J, Kalaydjieva L, Gracía R, Campos-Barros A, Benito-Sanz S, Heath KE. Barca-Tierno V, et al. Among authors: heine suner d. Eur J Hum Genet. 2011 Dec;19(12):1218-25. doi: 10.1038/ejhg.2011.128. Epub 2011 Jun 29. Eur J Hum Genet. 2011. PMID: 21712857 Free PMC article.
12 results