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18 results

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Page 1
Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature.
Gómez-Laguna L, Martínez-Herrera A, Reyes-de la Rosa ADP, García-Delgado C, Nieto-Martínez K, Fernández-Ramírez F, Valderrama-Atayupanqui TY, Morales-Jiménez AB, Villa-Morales J, Kofman S, Cervantes A, Morán-Barroso VF. Gómez-Laguna L, et al. Among authors: fernandez ramirez f. Ophthalmic Genet. 2018 Jan-Feb;39(1):56-62. doi: 10.1080/13816810.2017.1363245. Epub 2017 Sep 18. Ophthalmic Genet. 2018. PMID: 28922055 Review.
Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes.
Cervantes A, García-Delgado C, Fernández-Ramírez F, Galaz-Montoya C, Morales-Jiménez AB, Nieto-Martínez K, Gómez-Laguna L, Villa-Morales J, Quintana-Palma M, Berúmen J, Kofman S, Morán-Barroso VF. Cervantes A, et al. BMC Med Genomics. 2014 Sep 15;7:55. doi: 10.1186/1755-8794-7-55. BMC Med Genomics. 2014. PMID: 25223409 Free PMC article.
Congenital hypertrichosis universalis in Mexican female twins.
Cervantes A, García-Delgado C, Fernández-Ramírez F, Valencia-Herrera A, Kofman S, Morán-Barroso V. Cervantes A, et al. Among authors: fernandez ramirez f. Int J Dermatol. 2016 Jan;55(1):e29-31. doi: 10.1111/ijd.13104. Epub 2015 Oct 30. Int J Dermatol. 2016. PMID: 26518157 Review. No abstract available.
Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event.
Morán-Barroso VF, Cervantes A, Rivera-Vega MDR, Del Castillo-Moreno A, Moreno-Chacón A, Mejía-Cauich E, Contreras-Ortiz LE, Fernández-Ramírez F. Morán-Barroso VF, et al. Among authors: fernandez ramirez f. Mol Genet Genomic Med. 2021 Sep;9(9):e1762. doi: 10.1002/mgg3.1762. Epub 2021 Jul 20. Mol Genet Genomic Med. 2021. PMID: 34288579 Free PMC article.
Copy Number Alterations Associated with Acute Lymphoblastic Leukemia in Mexican Children. A report from The Mexican Inter-Institutional Group for the identification of the causes of childhood leukemia.
Rosales-Rodríguez B, Fernández-Ramírez F, Núñez-Enríquez JC, Velázquez-Wong AC, Medina-Sansón A, Jiménez-Hernández E, Flores-Lujano J, Peñaloza-González JG, Espinosa-Elizondo RM, Pérez-Saldívar ML, Torres-Nava JR, Martín-Trejo JA, Martínez-Morales GB, Bekker-Méndez VC, Mejía-Aranguré JM, Rosas-Vargas H. Rosales-Rodríguez B, et al. Among authors: fernandez ramirez f. Arch Med Res. 2016 Nov;47(8):706-711. doi: 10.1016/j.arcmed.2016.12.002. Arch Med Res. 2016. PMID: 28476198
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.
Nevado J, Rosenfeld JA, Mena R, Palomares-Bralo M, Vallespín E, Ángeles Mori M, Tenorio JA, Gripp KW, Denenberg E, Del Campo M, Plaja A, Martín-Arenas R, Santos-Simarro F, Armengol L, Gowans G, Orera M, Sanchez-Hombre MC, Corbacho-Fernández E, Fernández-Jaén A, Haldeman-Englert C, Saitta S, Dubbs H, Bénédicte DB, Li X, Devaney L, Dinulos MB, Vallee S, Crespo MC, Fernández B, Fernández-Montaño VE, Rueda-Arenas I, de Torres ML, Ellison JW, Raskin S, Venegas-Vega CA, Fernández-Ramírez F, Delicado A, García-Miñaúr S, Lapunzina P. Nevado J, et al. Eur J Hum Genet. 2015 Dec;23(12):1615-26. doi: 10.1038/ejhg.2015.51. Epub 2015 Apr 8. Eur J Hum Genet. 2015. PMID: 25853300 Free PMC article.
Identification of genomic copy number variations in lung benign metastasizing leiomyomatosis.
Hernández-Plata E, Velázquez-Wong AC, Jiménez-Ramírez C, Fernández-Ramírez F, Galicia-Sánchez LM, Flores-García CA, Hernández-Hernández JM, Rosas-Vargas H, Huicochea-Montiel JC, Espinosa-Poblano E. Hernández-Plata E, et al. Among authors: fernandez ramirez f. Clin Respir J. 2019 Feb;13(2):105-113. doi: 10.1111/crj.12987. Epub 2019 Jan 29. Clin Respir J. 2019. PMID: 30597752
18 results