Rivera Brugués N - Search Results

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Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization.

Hempel M, Rivera Brugués N, Wagenstaller J, Lederer G, Weitensteiner A, Seidel H, Meitinger T, Strom TM. Hempel M, et al. Among authors: rivera brugues n. Am J Med Genet A. 2009 Oct;149A(10):2106-12. doi: 10.1002/ajmg.a.33042. Am J Med Genet A. 2009. PMID: 19676056

Polyneuropathy, scoliosis, tall stature, and oligodontia represent novel features of the interstitial 6p deletion phenotype.

Zirn B, Hempel M, Hahn A, Neubauer B, Wagenstaller J, Rivera-Bruguès N, Strom TM, Köhler A. Zirn B, et al. Among authors: rivera brugues n. Am J Med Genet A. 2008 Nov 15;146A(22):2960-5. doi: 10.1002/ajmg.a.32536. Am J Med Genet A. 2008. PMID: 18924226 No abstract available.

3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome.

Oexle K, Hempel M, Jauch A, Meitinger T, Rivera-Brugués N, Stengel-Rutkowski S, Strom T. Oexle K, et al. Among authors: rivera brugues n. Eur J Med Genet. 2011 May-Jun;54(3):225-30. doi: 10.1016/j.ejmg.2010.12.012. Epub 2011 Jan 4. Eur J Med Genet. 2011. PMID: 21211577

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits.

Horn D, Kapeller J, Rivera-Brugués N, Moog U, Lorenz-Depiereux B, Eck S, Hempel M, Wagenstaller J, Gawthrope A, Monaco AP, Bonin M, Riess O, Wohlleber E, Illig T, Bezzina CR, Franke A, Spranger S, Villavicencio-Lorini P, Seifert W, Rosenfeld J, Klopocki E, Rappold GA, Strom TM. Horn D, et al. Among authors: rivera brugues n. Hum Mutat. 2010 Nov;31(11):E1851-60. doi: 10.1002/humu.21362. Hum Mutat. 2010. PMID: 20848658 Free PMC article.

Cohen syndrome diagnosis using whole genome arrays.

Rivera-Brugués N, Albrecht B, Wieczorek D, Schmidt H, Keller T, Göhring I, Ekici AB, Tzschach A, Garshasbi M, Franke K, Klopp N, Wichmann HE, Meitinger T, Strom TM, Hempel M. Rivera-Brugués N, et al. J Med Genet. 2011 Feb;48(2):136-40. doi: 10.1136/jmg.2010.082206. Epub 2010 Oct 4. J Med Genet. 2011. PMID: 20921020

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.

Cuscó I, Corominas R, Bayés M, Flores R, Rivera-Brugués N, Campuzano V, Pérez-Jurado LA. Cuscó I, et al. Among authors: rivera brugues n. Genome Res. 2008 May;18(5):683-94. doi: 10.1101/gr.073197.107. Epub 2008 Feb 21. Genome Res. 2008. PMID: 18292220 Free PMC article.

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