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Page 1
Direct tandem duplication in chromosome 19q characterized by array CGH.
Palomares Bralo M, Delicado A, Lapunzina P, Velázquez Fragua R, Villa O, Angeles Mori M, Luisa de Torres M, Fernández L, Pérez Jurado LA, López Pajares I. Palomares Bralo M, et al. Among authors: velazquez fragua r. Eur J Med Genet. 2008 May-Jun;51(3):257-63. doi: 10.1016/j.ejmg.2008.01.003. Epub 2008 Feb 2. Eur J Med Genet. 2008. PMID: 18342596
Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability.
Pacio Miguez M, Santos-Simarro F, García-Miñaúr S, Velázquez Fragua R, Del Pozo Á, Solís M, Jiménez Rodríguez C, Rufo-Rabadán V, Fernandez VE, Rueda I, Gomez Del Pozo MV, Gallego N, Lapunzina P, Palomares-Bralo M. Pacio Miguez M, et al. Among authors: velazquez fragua r. Am J Med Genet A. 2020 Oct;182(10):2222-2225. doi: 10.1002/ajmg.a.61778. Epub 2020 Aug 18. Am J Med Genet A. 2020. PMID: 32808430 No abstract available.
Oculocerebrocutaneous (Delleman) syndrome: report of two cases.
Pascual-Castroviejo I, Pascual-Pascual SI, Velázquez-Fragua R, Lapunzina P. Pascual-Castroviejo I, et al. Among authors: velazquez fragua r. Neuropediatrics. 2005 Feb;36(1):50-4. doi: 10.1055/s-2005-837542. Neuropediatrics. 2005. PMID: 15776323
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.
Martinez-Monseny A, Cuadras D, Bolasell M, Muchart J, Arjona C, Borregan M, Algrabli A, Montero R, Artuch R, Velázquez-Fragua R, Macaya A, Pérez-Cerdá C, Pérez-Dueñas B, Pérez B, Serrano M; CDG Spanish Consortium. Martinez-Monseny A, et al. Among authors: velazquez fragua r. J Med Genet. 2019 Apr;56(4):236-245. doi: 10.1136/jmedgenet-2018-105588. Epub 2018 Nov 21. J Med Genet. 2019. PMID: 30464053
[Proteus syndrome: report of two cases].
Velázquez Fragua R, Pascual-Castroviejo I. Velázquez Fragua R, et al. An Pediatr (Barc). 2003 May;58(5):496-501. doi: 10.1016/s1695-4033(03)78101-6. An Pediatr (Barc). 2003. PMID: 12724087 Free article. Spanish.
[Kabuki make-up syndrome. A report of 18 Spanish cases].
Pascual-Castroviejo I, Pascual-Pascual SI, Velázquez-Fragua R, Palencia R. Pascual-Castroviejo I, et al. Among authors: velazquez fragua r. Rev Neurol. 2005 Apr 16-30;40(8):473-8. Rev Neurol. 2005. PMID: 15861328 Free article. Spanish.
Familial spinal neurofibromatosis.
Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez-Fragua R, Botella P, Viaño J. Pascual-Castroviejo I, et al. Among authors: velazquez fragua r. Neuropediatrics. 2007 Apr;38(2):105-8. doi: 10.1055/s-2007-985136. Neuropediatrics. 2007. PMID: 17712740
55 results