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Investigación sobre Anomalías Congénitas
Publicaciones destacadas
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B. Hum Mutat. 2020 Jan;41(1):265-276
Palencia-Campos A, Martínez-Fernández ML, Altunoglu U, Soto-Bielicka P, Torres A, Marín P, Aller E, Şentürk L, Berköz Ö, Yıldıran M, Kayserili H, Gil-Camarero E, Colli-Lista G, Sanchís-Calvo A, Carretero A; ECEMC Working Group on Polydactyly; Guillén-Navarro E, López-González V, Ballesta-Martínez M, Rosell J, Aglan MS, Temtamy S, Otaify GA, Cuevas-Catalina L, Torres-Saavedra MN, Nevado J, Tenorio J, Lapunzina P, Bermejo-Sánchez E, Ruiz-Pérez VL.
PUBMED DOIDelphi approach to select rare diseases for a European representative survey. The BURQOL-RD study. Health Policy. 2012 Nov;108(1):19-26
Linertová R, Serrano-Aguilar P, Posada de la Paz M, Hens-Pérez M, Kanavos P, Taruscio D, Schieppati A, Stefanov R, Péntek M, Delgado C, von der Schulenburg JM, Persson U, Chevreul K, Fattore G, Worbes-Cerezo M, Sefton M, López-Bastida J; BURQOL-RD Research Group.
PUBMED DOIFive new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum. Orphanet J Rare Dis. 2020 Feb 10;15(1):44
Urreizti R, Lopez-Martin E, Martinez-Monseny A, Pujadas M, Castilla-Vallmanya L, Pérez-Jurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan M, Grinberg D, Bermejo-Sánchez E, Balcells S.
PUBMED DOIExpanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders. Hum Mutat. 2020 Sep;41(9):1615-1628
Abdelfattah F, Kariminejad A, Kahlert AK, Morrison PJ, Gumus E, Mathews KD, Darbro BW, Amor DJ, Walsh M, Sznajer Y, Weiß L, Weidensee S, Chitayat D, Shannon P, Bermejo-Sánchez E, Riaño-Galán I, Hayes I, Poke G, Rooryck C, Pennamen P, Khung-Savatovsky S, Toutain A, Vuillaume ML, Ghaderi-Sohi S, Kariminejad MH, Weinert S, Sticht H, Zenker M, Schanze D.
PUBMED DOIA multi-country study of prevalence and early childhood mortality among children with omphalocele. Birth Defects Res. 2020 Dec;112(20):1787-1801
Nembhard WN, Bergman JEH, Politis MD, Arteaga-Vázquez J, Bermejo-Sánchez E, Canfield MA, Cragan JD, Dastgiri S, de Walle HEK, Feldkamp ML, Nance A, Gatt M, Groisman B, Hurtado-Villa P, Kallén K, Landau D, Lelong N, Lopez-Camelo J, Martinez L, Morgan M, Pierini A, Rissmann A, Šípek A, Szabova E, Tagliabue G, Wertelecki W, Zarante I, Bakker MK, Kancherla V, Mastroiacovo P.
PUBMED DOI