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Page 1
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Kayumi S, Pérez-Jurado LA, Palomares M, Rangu S, Sheppard SE, Chung WK, Kruer MC, Kharbanda M, Amor DJ, McGillivray G, Cohen JS, García-Miñaúr S, van Eyk CL, Harper K, Jolly LA, Webber DL, Barnett CP, Santos-Simarro F, Pacio-Míguez M, Pozo AD, Bakhtiari S, Deardorff M, Dubbs HA, Izumi K, Grand K, Gray C, Mark PR, Bhoj EJ, Li D, Ortiz-Gonzalez XR, Keena B, Zackai EH, Goldberg EM, Perez de Nanclares G, Pereda A, Llano-Rivas I, Arroyo I, Fernández-Cuesta MÁ, Thauvin-Robinet C, Faivre L, Garde A, Mazel B, Bruel AL, Tress ML, Brilstra E, Fine AS, Crompton KE, Stegmann APA, Sinnema M, Stevens SCJ, Nicolai J, Lesca G, Lion-François L, Haye D, Chatron N, Piton A, Nizon M, Cogne B, Srivastava S, Bassetti J, Muss C, Gripp KW, Procopio RA, Millan F, Morrow MM, Assaf M, Moreno-De-Luca A, Joss S, Hamilton MJ, Bertoli M, Foulds N, McKee S, MacLennan AH, Gecz J, Corbett MA. Kayumi S, et al. Among authors: perez de nanclares g, perez jurado la. Genet Med. 2022 Nov;24(11):2351-2366. doi: 10.1016/j.gim.2022.08.006. Epub 2022 Sep 9. Genet Med. 2022. PMID: 36083290 Free PMC article.
Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism.
Romanelli V, Nevado J, Fraga M, Trujillo AM, Mori MÁ, Fernández L, Pérez de Nanclares G, Martínez-Glez V, Pita G, Meneses H, Gracia R, García-Miñaur S, García de Miguel P, Lecumberri B, Rodríguez JI, González Neira A, Monk D, Lapunzina P. Romanelli V, et al. Among authors: perez de nanclares g. J Med Genet. 2011 Mar;48(3):212-6. doi: 10.1136/jmg.2010.081919. Epub 2010 Nov 19. J Med Genet. 2011. PMID: 21097775
Brachydactyly E: isolated or as a feature of a syndrome.
Pereda A, Garin I, Garcia-Barcina M, Gener B, Beristain E, Ibañez AM, Perez de Nanclares G. Pereda A, et al. Among authors: perez de nanclares g. Orphanet J Rare Dis. 2013 Sep 12;8:141. doi: 10.1186/1750-1172-8-141. Orphanet J Rare Dis. 2013. PMID: 24028571 Free PMC article. Review.
Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.
Tenorio J, Romanelli V, Martin-Trujillo A, Fernández GM, Segovia M, Perandones C, Pérez Jurado LA, Esteller M, Fraga M, Arias P, Gordo G, Dapía I, Mena R, Palomares M, Pérez de Nanclares G, Nevado J, García-Miñaur S, Santos-Simarro F, Martinez-Glez V, Vallespín E; SOGRI Consortium; Monk D, Lapunzina P. Tenorio J, et al. Among authors: perez de nanclares g, perez jurado la. Am J Med Genet A. 2016 Oct;170(10):2740-9. doi: 10.1002/ajmg.a.37852. Epub 2016 Aug 2. Am J Med Genet A. 2016. PMID: 27480579
The p.R56* mutation in PTHLH causes variable brachydactyly type E.
Pereda A, Garzon-Lorenzo L, Garin I, Cruz-Rojo J, Sanchez Del Pozo J, Perez de Nanclares G. Pereda A, et al. Among authors: perez de nanclares g. Am J Med Genet A. 2017 Mar;173(3):816-819. doi: 10.1002/ajmg.a.38067. Am J Med Genet A. 2017. PMID: 28211986 No abstract available.
[Brachydactyly type C due to a nonsense mutation in the GDF5 gene].
Travieso-Suárez L, Pereda A, Pozo-Román J, Pérez de Nanclares G, Argente J. Travieso-Suárez L, et al. Among authors: perez de nanclares g. An Pediatr (Engl Ed). 2018 Feb;88(2):107-109. doi: 10.1016/j.anpedi.2017.03.001. Epub 2017 Apr 5. An Pediatr (Engl Ed). 2018. PMID: 28391997 Free article. Spanish. No abstract available.
Progressive osseous heteroplasia caused by a mosaic GNAS mutation.
Pereda A, Martos-Tello JM, Garin I, Errea-Dorronsoro J, Perez de Nanclares G. Pereda A, et al. Among authors: perez de nanclares g. Clin Endocrinol (Oxf). 2018 Jun;88(6):993-995. doi: 10.1111/cen.13584. Epub 2018 Mar 25. Clin Endocrinol (Oxf). 2018. PMID: 29464731 No abstract available.
122 results