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Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán

2018, Número 4

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Rev Invest Clin 2018; 70 (4)


Combined Preimplantation Genetic Testing for Aneuploidy and Monogenic Disease in a Mexican Family Affected by X-linked Hypohidrotic Ectodermal Dysplasia

Piña-Aguilar RE, González-Ortega C, Calull-Bago A, Lanuza-López MC, Cancino-Villarreal P, Gutiérrez-Gamiño AM, Gutiérrez-Gutiérrez AM

Idioma: Ingles.
Referencias bibliográficas: 12
Paginas: 164-168
Archivo PDF: 100.66 Kb.


RESUMEN

Sin resumen.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Wright JT, Grange DK, Fete M, et al. Hypohidrotic ectodermal dysplasia. 1993.

  2. Zimmerman RS, Jalas C, Tao X, et al. Development and validation of concurrent preimplantation genetic diagnosis for single gene disorders and comprehensive chromosomal aneuploidy screening without whole genome amplification. Fertil Steril. 2016;105:286-94.

  3. Martínez-Robles IM, González-Ortega C, Saavedra-Campos P, et al. Administración de hormona luteinizante recombinante (LHr) como protocolo de estimulación ovárica controlada en FIV-ICSI. Ginecol Obstet Mex. 2016;84:630-8.

  4. González-Ortega C, Cancino-Villarreal P, Pérez-Torres A, et al. Inyección intracitoplásmica de espermatozoides morfológicamente seleccionados (IMSI) vs inyección intracitoplásmica de espermatozoides (ICSI) en pacientes con falla repetida a ICSI. Ginecol Obstet Mex. 2010;78:652-9.

  5. Salas-Alanis JC, Wozniak E, Mein CA, et al. Mutations in EDA and EDAR genes in a large Mexican Hispanic cohort with hypohidrotic ectodermal dysplasia. Ann Dermatol. 2015;27:474-7.

  6. Monroy-Jaramillo N, Abad-Flores JD, García-Delgado C, et al. Mutational spectrum of EDA and EDAR genes in a cohort of Mexican Mestizo patients with hypohidrotic ectodermal dysplasia. J Eur Acad Dermatol Venereol. 2017;31:e321-4.

  7. Zegers-Hochschild F, Schwarze JE, Crosby J, Musri C, Urbina MT; Latin American Network of Assisted Reproduction (REDLARA). Assisted reproduction techniques in Latin America: the Latin American Registry, 2014. Reprod Biomed Online. 2017;35 287-95.

  8. Piña-Aguilar RE, Regalado-Hernández MÁ, Moreno-García JD, et al. A rapidly progressive defective spermatogenesis in a Mexican family affected by spino-bulbar muscular atrophy. Syst Biol Reprod Med. 2016;62:146-51.

  9. Chacon-Camacho OF, Jitskii S, Buentello-Volante B, QuevedoMartinez J, Zenteno JC. Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa. Gene. 2013;528:178-82.

  10. Minasi MG, Fiorentino F, Ruberti A, et al. Genetic diseases and aneuploidies can be detected with a single blastocyst biopsy: a successful clinical approach. Hum Reprod. 2017;32:1770-7.

  11. Goldman KN, Nazem T, Berkeley A, Palter S, Grifo JA Preimplantation genetic diagnosis (PGD) for monogenic disorders: the value of concurrent aneuploidy screening. J Genet Couns. 2016; 25:1327-37.

  12. Natesan SA, Bladon AJ, Coskun S, et al. Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro Genet Med. 2014;16:838-45.




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