Investigación sobre Anomalías Congénitas

Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome. Am J Med Genet A. 2014 Feb;164A(2):338-45

Martínez-Fernández ML, Bermejo-Sánchez E, Fernández B, MacDonald A, Fernández-Toral J, Martínez-Frías ML.

Patient with disorganization syndrome: surgical procedures, pathology, and potential causes. Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):781-5

Vallejo OG, Benítez Sánchez Mdel C, Cánovas CS, Ontiveros JD, Ruiz Jiménez JI, Bermejo-Sánchez E, Martínez-Frías ML.

A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome. Am J Med Genet A. 2013 Sep;161A(9):2281-90

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.

PUBMED DOI

Bladder exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature. Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):321-32

Siffel C, Correa A, Amar E, Bakker MK, Bermejo-Sánchez E, Bianca S, Castilla EE, Clementi M, Cocchi G, Csáky-Szunyogh M, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry RB, Marengo LK, Mastroiacovo P, Morgan M, Mutchinick OM, Pierini A, Rissmann A, Ritvanen A, Scarano G, Szabova E, Olney RS.

PUBMED DOI

Investigación