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2,872 results

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Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome.
Martínez-Fernández ML, Bermejo-Sánchez E, Fernández B, MacDonald A, Fernández-Toral J, Martínez-Frías ML. Martínez-Fernández ML, et al. Among authors: macdonald a. Am J Med Genet A. 2014 Feb;164A(2):338-45. doi: 10.1002/ajmg.a.36224. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311462 Review.
Interstitial deletion 14q22.3-q23.2: genotype-phenotype correlation.
Martínez-Frías ML, Ocejo-Vinyals JG, Arteaga R, Martínez-Fernández ML, Macdonald A, Pérez-Belmonte E, Bermejo-Sánchez E, Martínez S. Martínez-Frías ML, et al. Among authors: macdonald a. Am J Med Genet A. 2014 Mar;164A(3):639-47. doi: 10.1002/ajmg.a.36330. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357464
Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome.
Arroyo-Carrera I, de Zaldívar Tristancho MS, Bermejo-Sánchez E, Martínez-Fernández ML, López-Lafuente A, MacDonald A, Zúñiga Á, Luis Gómez-Skarmeta J, Luisa Martínez-Frías M. Arroyo-Carrera I, et al. Among authors: macdonald a. Am J Med Genet A. 2015 Jun;167(6):1243-51. doi: 10.1002/ajmg.a.36878. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25899426
A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome.
Carrascosa-Romero MC, Suela J, Pardal-Fernández JM, Bermejo-Sánchez E, Vidal-Company A, MacDonald A, Tébar-Gil R, Martínez-Fernández ML, Martínez-Frías ML. Carrascosa-Romero MC, et al. Among authors: macdonald a. Am J Med Genet A. 2013 Sep;161A(9):2281-90. doi: 10.1002/ajmg.a.35862. Epub 2013 Jul 25. Am J Med Genet A. 2013. PMID: 23894067
Subtelomeric deletion of 12p: Description of a third case and review.
Macdonald AH, Rodríguez L, Aceña I, Martínez-Fernández ML, Sánchez-Izquierdo D, Zuazo E, Martínez-Frías ML. Macdonald AH, et al. Am J Med Genet A. 2010 Jun;152A(6):1561-6. doi: 10.1002/ajmg.a.33401. Am J Med Genet A. 2010. PMID: 20503336 Review.
2,872 results