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Page 1
Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.
Baladron B, Mielu LM, López-Martín E, Barrero MJ, Lopez L, Alvarado JI, Monzón S, Varona S, Cuesta I, Cazorla R, Lara J, Iglesias G, Román E, Ros P, Gomez-Mariano G, Cubillo I, Miguel EH, Rivera D, Alonso J, Bermejo-Sánchez E, Posada M, Martínez-Delgado B. Baladron B, et al. Among authors: bermejo sanchez e. Int J Mol Sci. 2022 Aug 22;23(16):9480. doi: 10.3390/ijms23169480. Int J Mol Sci. 2022. PMID: 36012761 Free PMC article.
SpainUDP: The Spanish Undiagnosed Rare Diseases Program.
López-Martín E, Martínez-Delgado B, Bermejo-Sánchez E, Alonso J; SpainUDP Network; Posada M. López-Martín E, et al. Int J Environ Res Public Health. 2018 Aug 14;15(8):1746. doi: 10.3390/ijerph15081746. Int J Environ Res Public Health. 2018. PMID: 30110963 Free PMC article.
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.
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. Urreizti R, et al. Orphanet J Rare Dis. 2020 Feb 10;15(1):44. doi: 10.1186/s13023-020-1317-9. Orphanet J Rare Dis. 2020. PMID: 32041641 Free PMC article.
De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.
Martinez-Delgado B, Lopez-Martin E, Lara-Herguedas J, Monzon S, Cuesta I, Juliá M, Aquino V, Rodriguez-Martin C, Damian A, Gonzalo I, Gomez-Mariano G, Baladron B, Cazorla R, Iglesias G, Roman E, Ros P, Tutor P, Mellor S, Jimenez C, Cabrejas MJ, Gonzalez-Vioque E, Alonso J, Bermejo-Sánchez E, Posada M. Martinez-Delgado B, et al. Am J Med Genet A. 2021 Mar;185(3):877-883. doi: 10.1002/ajmg.a.62017. Epub 2020 Dec 21. Am J Med Genet A. 2021. PMID: 33346930
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. 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
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC. Marchegiani S, et al. Am J Hum Genet. 2015 Jul 2;97(1):99-110. doi: 10.1016/j.ajhg.2015.05.017. Epub 2015 Jun 25. Am J Hum Genet. 2015. PMID: 26119818 Free PMC article.
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.
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. Palencia-Campos A, et al. Hum Mutat. 2020 Jan;41(1):265-276. doi: 10.1002/humu.23921. Epub 2019 Nov 6. Hum Mutat. 2020. PMID: 31549748
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. 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
57 results