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Page 1
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. 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.
European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.
Garin I, Mantovani G, Aguirre U, Barlier A, Brix B, Elli FM, Freson K, Grybek V, Izzi B, Linglart A, Perez de Nanclares G, Silve C, Thiele S, Werner R; EuroPHP Consortium. Garin I, et al. Eur J Hum Genet. 2015 Apr;23(4):438-44. doi: 10.1038/ejhg.2014.127. Epub 2014 Jul 9. Eur J Hum Genet. 2015. PMID: 25005735 Free PMC article.
The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network.
Elli FM, Linglart A, Garin I, de Sanctis L, Bordogna P, Grybek V, Pereda A, Giachero F, Verrua E, Hanna P, Mantovani G, Perez de Nanclares G. Elli FM, et al. Among authors: pereda a. J Clin Endocrinol Metab. 2016 Oct;101(10):3657-3668. doi: 10.1210/jc.2015-4310. Epub 2016 Jul 18. J Clin Endocrinol Metab. 2016. PMID: 27428667 Free article.
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. 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: pereda a. 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. 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.
198 results