Galán E - Search Results

1

Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y.

Delicado A, Lapunzina P, Palomares M, Molina MA, Galán E, López Pajares I. Delicado A, et al. Among authors: galan e. Eur J Med Genet. 2005 Apr-Jun;48(2):159-66. doi: 10.1016/j.ejmg.2005.01.017. Epub 2005 Mar 2. Eur J Med Genet. 2005. PMID: 16053907

2

Craniofacial dyssynostosis: description of the first four Spanish cases and review.

Bermejo E, Félix V, Lapunzina P, Galán E, Soler V, Delicado A, Pantoja A, Márquez MD, García M, Mora E, Cuevas L, Ureta A, López-Pajares I, Martínez-Frías ML. Bermejo E, et al. Among authors: galan e. Am J Med Genet A. 2005 Jan 1;132A(1):41-8. doi: 10.1002/ajmg.a.30380. Am J Med Genet A. 2005. PMID: 15551327 Review.

3

New findings in craniofacial dyssynostosis.

Bermejo E, Lapunzina P, Galán E, Félix V, Soler V, Martínez-Frias ML. Bermejo E, et al. Among authors: galan e. Am J Med Genet A. 2005 Apr 30;134(3):344-5. doi: 10.1002/ajmg.a.30632. Am J Med Genet A. 2005. PMID: 15723305 No abstract available.

4

Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.

Chabchoub E, Rodríguez L, Galán E, Mansilla E, Martínez-Fernandez ML, Martínez-Frías ML, Fryns JP, Vermeesch JR. Chabchoub E, et al. Among authors: galan e. J Med Genet. 2007 Apr;44(4):250-6. doi: 10.1136/jmg.2006.045476. Epub 2006 Dec 15. J Med Genet. 2007. PMID: 17172463 Free PMC article.

5

Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration.

Cuscó I, del Campo M, Vilardell M, González E, Gener B, Galán E, Toledo L, Pérez-Jurado LA. Cuscó I, et al. Among authors: galan e. BMC Med Genet. 2008 Apr 11;9:27. doi: 10.1186/1471-2350-9-27. BMC Med Genet. 2008. PMID: 18405349 Free PMC article.

6

Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person.

Fickie MR, Lapunzina P, Gentile JK, Tolkoff-Rubin N, Kroshinsky D, Galan E, Gean E, Martorell L, Romanelli V, Toral JF, Lin AE. Fickie MR, et al. Among authors: galan e. Am J Med Genet A. 2011 Sep;155A(9):2105-11. doi: 10.1002/ajmg.a.34156. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834047 Review.

7

Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.

Palomares-Bralo M, Vallespín E, Del Pozo Á, Ibañez K, Silla JC, Galán E, Gordo G, Martínez-Glez V, Alba-Valdivia LI, Heath KE, García-Miñaúr S, Lapunzina P, Santos-Simarro F. Palomares-Bralo M, et al. Among authors: galan e. Genet Med. 2017 Nov;19(11):1285-1286. doi: 10.1038/gim.2017.42. Epub 2017 Apr 27. Genet Med. 2017. PMID: 28640240 Free article. No abstract available.

8

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

Vidal S, Brandi N, Pacheco P, Gerotina E, Blasco L, Trotta JR, Derdak S, Del Mar O'Callaghan M, Garcia-Cazorla À, Pineda M, Armstrong J; Rett Working Group. Vidal S, et al. Sci Rep. 2017 Sep 25;7(1):12288. doi: 10.1038/s41598-017-11620-3. Sci Rep. 2017. PMID: 28947817 Free PMC article.

9

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.

Xiol C, Vidal S, Pascual-Alonso A, Blasco L, Brandi N, Pacheco P, Gerotina E, O'Callaghan M, Pineda M, Armstrong J; Rett Working Group. Xiol C, et al. Sci Rep. 2019 Aug 19;9(1):11983. doi: 10.1038/s41598-019-48385-w. Sci Rep. 2019. PMID: 31427717 Free PMC article.

10

Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

Vidal S, Brandi N, Pacheco P, Gerotina E, Blasco L, Trotta JR, Derdak S, Del Mar O'Callaghan M, Garcia-Cazorla À, Pineda M, Armstrong J; Rett Working Group. Vidal S, et al. Sci Rep. 2021 Sep 7;11(1):18146. doi: 10.1038/s41598-021-97262-y. Sci Rep. 2021. PMID: 34493777 Free PMC article. No abstract available.

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