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Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion.
Mol Cytogenet. 2019 Aug 1;12:35. doi: 10.1186/s13039-019-0438-0. eCollection 2019.
Mol Cytogenet. 2019.
PMID: 31388356
Free PMC article.
Molecular Analysis Confirms that FKRP-Related Disorders are Underdiagnosed in Mexican Patients with Neuromuscular Diseases.
Navarro-Cobos MJ, González-Del Angel A, Estandia-Ortega B, Ruiz-Herrera A, Becerra A, Vargas-Ramírez G, Bermúdez-López C, Alcántara-Ortigoza MA.
Navarro-Cobos MJ, et al.
Neuropediatrics. 2017 Dec;48(6):442-450. doi: 10.1055/s-0037-1607054. Epub 2017 Oct 24.
Neuropediatrics. 2017.
PMID: 29065428
No abstract available.
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Derivation of a minimal functional XIST by combining human and mouse interaction domains.
Navarro-Cobos MJ, Morales-Guzman SI, Baldry SEL, Brown CJ.
Navarro-Cobos MJ, et al.
Hum Mol Genet. 2023 Apr 6;32(8):1289-1300. doi: 10.1093/hmg/ddac285.
Hum Mol Genet. 2023.
PMID: 36426827
Free PMC article.
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Genes that escape from X-chromosome inactivation: Potential contributors to Klinefelter syndrome.
Navarro-Cobos MJ, Balaton BP, Brown CJ.
Navarro-Cobos MJ, et al.
Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):226-238. doi: 10.1002/ajmg.c.31800. Epub 2020 May 22.
Am J Med Genet C Semin Med Genet. 2020.
PMID: 32441398
Free PMC article.
Review.
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