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Del Xq23 in a mosaic Turner female: molecular and cytogenetic studies.
Mesa-Cornejo VM, García-Cruz D, Monroy-Jaramillo N, Vásquez AI, Dávalos NO, Galaviz C, Kofman S. Mesa-Cornejo VM, et al. Among authors: kofman s. Ann Genet. 2001 Oct-Dec;44(4):171-4. doi: 10.1016/s0003-3995(01)01092-9. Ann Genet. 2001. PMID: 11755099
Diagnosis of familial Wolf-Hirschhorn syndrome due to a paternal cryptic chromosomal rearrangement by conventional and molecular cytogenetic techniques.
Venegas-Vega CA, Fernández-Ramírez F, Zepeda LM, Nieto-Martínez K, Gómez-Laguna L, Garduño-Zarazúa LM, Berumen J, Kofman S, Cervantes A. Venegas-Vega CA, et al. Among authors: kofman s. Biomed Res Int. 2013;2013:209204. doi: 10.1155/2013/209204. Epub 2013 Feb 3. Biomed Res Int. 2013. PMID: 23484094 Free PMC article.
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. Among authors: kofman s. BMC Med Genomics. 2014 Sep 15;7:55. doi: 10.1186/1755-8794-7-55. BMC Med Genomics. 2014. PMID: 25223409 Free PMC article.
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: kofman s. 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.
Amplified genes may be overexpressed, unchanged, or downregulated in cervical cancer cell lines.
Vazquez-Mena O, Medina-Martinez I, Juárez-Torres E, Barrón V, Espinosa A, Villegas-Sepulveda N, Gómez-Laguna L, Nieto-Martínez K, Orozco L, Roman-Basaure E, Muñoz Cortez S, Borges Ibañez M, Venegas-Vega C, Guardado-Estrada M, Rangel-López A, Kofman S, Berumen J. Vazquez-Mena O, et al. Among authors: kofman s. PLoS One. 2012;7(3):e32667. doi: 10.1371/journal.pone.0032667. Epub 2012 Mar 7. PLoS One. 2012. PMID: 22412903 Free PMC article.
Impact of gene dosage on gene expression, biological processes and survival in cervical cancer: a genome-wide follow-up study.
Medina-Martinez I, Barrón V, Roman-Bassaure E, Juárez-Torres E, Guardado-Estrada M, Espinosa AM, Bermudez M, Fernández F, Venegas-Vega C, Orozco L, Zenteno E, Kofman S, Berumen J. Medina-Martinez I, et al. Among authors: kofman s. PLoS One. 2014 May 30;9(5):e97842. doi: 10.1371/journal.pone.0097842. eCollection 2014. PLoS One. 2014. PMID: 24879114 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: kofman s. 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.
The Amerindian mtDNA haplogroup B2 enhances the risk of HPV for cervical cancer: de-regulation of mitochondrial genes may be involved.
Guardado-Estrada M, Medina-Martínez I, Juárez-Torres E, Roman-Bassaure E, Macías L, Alfaro A, Alcántara-Vázquez A, Alonso P, Gomez G, Cruz-Talonia F, Serna L, Muñoz-Cortez S, Borges-Ibañez M, Espinosa A, Kofman S, Berumen J. Guardado-Estrada M, et al. Among authors: kofman s. J Hum Genet. 2012 Apr;57(4):269-76. doi: 10.1038/jhg.2012.17. Epub 2012 Feb 23. J Hum Genet. 2012. PMID: 22357541
64 results