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Simpson-Golabi-Behmel syndrome types I and II.
Tenorio J, Arias P, Martínez-Glez V, Santos F, García-Miñaur S, Nevado J, Lapunzina P. Tenorio J, et al. Orphanet J Rare Dis. 2014 Sep 20;9:138. doi: 10.1186/s13023-014-0138-0. Orphanet J Rare Dis. 2014. PMID: 25238977 Free PMC article. Review.
MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.
Tenorio J, Alarcón P, Arias P, Ramos FJ, Campistol J, Climent S, García-Miñaur S, Dapía I, Hernández A, Nevado J, Solís M, Ruiz-Pérez VL; Sogri Consortium; Lapunzina P. Tenorio J, et al. Clin Genet. 2019 Jun;95(6):726-731. doi: 10.1111/cge.13504. Epub 2019 Apr 29. Clin Genet. 2019. PMID: 30628072
Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.
Tenorio-Castaño J, Morte B, Nevado J, Martinez-Glez V, Santos-Simarro F, García-Miñaúr S, Palomares-Bralo M, Pacio-Míguez M, Gómez B, Arias P, Alcochea A, Carrión J, Arias P, Almoguera B, López-Grondona F, Lorda-Sanchez I, Galán-Gómez E, Valenzuela I, Méndez Perez MP, Cuscó I, Barros F, Pié J, Ramos S, Ramos FJ, Kuechler A, Tizzano E, Ayuso C, Kaiser FJ, Pérez-Jurado LA, Carracedo Á, The ENoD-Ciberer Consortium, The Side Consortium, Lapunzina P. Tenorio-Castaño J, et al. Genes (Basel). 2021 May 13;12(5):738. doi: 10.3390/genes12050738. Genes (Basel). 2021. PMID: 34068396 Free PMC article.
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.
mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.
Gordo G, Tenorio J, Arias P, Santos-Simarro F, García-Miñaur S, Moreno JC, Nevado J, Vallespin E, Rodriguez-Laguna L, de Mena R, Dapia I, Palomares-Bralo M, Del Pozo Á, Ibañez K, Silla JC, Barroso E, Ruiz-Pérez VL, Martinez-Glez V, Lapunzina P. Gordo G, et al. Clin Genet. 2018 Apr;93(4):762-775. doi: 10.1111/cge.13135. Epub 2018 Feb 13. Clin Genet. 2018. PMID: 28892148 Free article.
A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium; Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P. Tenorio J, et al. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Hum Mutat. 2014. PMID: 25196541
Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization.
García-Santiago FA, Martínez-Glez V, Santos F, García-Miñaur S, Mansilla E, Meneses AG, Rosell J, Granero ÁP, Vallespín E, Fernández L, Sierra B, Oliver-Bonet M, Palomares M, de Torres ML, Mori MÁ, Nevado J, Heath KE, Delicado A, Lapunzina P. García-Santiago FA, et al. Am J Med Genet A. 2015 May;167A(5):1018-25. doi: 10.1002/ajmg.a.36879. Epub 2015 Feb 25. Am J Med Genet A. 2015. PMID: 25712135
In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.
Fernández L, Tenorio J, Polo-Vaquero C, Vallespín E, Palomares-Bralo M, García-Miñaúr S, Santos-Simarro F, Arias P, Carnicer H, Giannivelli S, Medina J, Pérez-Piaya R, Solís J, Rodríguez M, Villagrá A, Rodríguez L, Nevado J, Martínez-Glez V, Heath KE, Lapunzina P. Fernández L, et al. Rev Esp Cardiol (Engl Ed). 2018 Jul;71(7):545-552. doi: 10.1016/j.rec.2017.10.013. Epub 2017 Nov 14. Rev Esp Cardiol (Engl Ed). 2018. PMID: 29146485 English, Spanish.
132 results