Search Results - "Monroy Jaramillo, N"

Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia by Monroy‐Jaramillo, N., Abad‐Flores, J.D., García‐Delgado, C., Villaseñor‐Domínguez, A., Mena‐Cedillos, C., Toledo‐Bahena, M.E., Valencia‐Herrera, A.M., Sánchez‐Boiso, A., Akaki‐Carreño, Y.I., Del Río Navarro, B., Aguirre‐Hernández, J., López‐López, M., Cervantes, A., Cerbón, M., Morán‐Barroso, V.F.

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PP139—Association of ABCB1, ABCC2, CYP2C9 and CYP2C19 polymorphism with phenytoin plasma concentrations by Ortega Vázquez, A, Monroy Jaramillo, N, Dorado, P, Galindo, I.F, Juárez Martínez, I.E, Jung Cook, H, Peñas-Lledó, E.M, Ochoa Morales, A, Alonso Vilatela, M.E, Llerena, A, Lopez Lopez, M

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PP143—Impact of UGT1A4 genotype in the clinical response to lamotrigine in patients with epilepsy by Ortega Vázquez, A, Dorado, P, Rojas Tomé, S, Iris Martínez Juárez, I, Jung Cook, H, Monroy Jaramillo, N, Alonso Vilatela, M.E, Peñas-Lledó, E.M, Llerena, A, Lopez Lopez, M

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BACE1-Deficient Mice Exhibit Alterations in Immune System Pathways by Stertz, L., Contreras-Shannon, V., Monroy-Jaramillo, N., Sun, J., Walss-Bass, C.

“…BACE1 encodes for the beta-site amyloid precursor protein cleaving enzyme 1 or β-secretase. Genetic deletion of Bace1 leads to behavioral alterations and…”
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CYP2C9, CYP2C19, ABCB1 genetic polymorphisms and phenytoin plasma concentrations in Mexican-Mestizo patients with epilepsy by Ortega-Vázquez, A, Dorado, P, Fricke-Galindo, I, Jung-Cook, H, Monroy-Jaramillo, N, Martínez-Juárez, I E, Familiar-López, I, Peñas-Lledó, E, LLerena, A, López-López, M

“…We aimed to explore the possible influence of CYP2C9 ( *2, *3 and IVS8-109 A>T), CYP2C19 ( *2 , *3 and *17 ) and ABCB1 (1236C>T, 2677G>A/T and 3435C>T) on…”
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The L444P GBA mutation is associated with early-onset Parkinson's disease in Mexican Mestizos by González-del Rincón, M de L, Monroy Jaramillo, N, Suárez Martínez, AI, Yescas Gómez, P, Boll Woehrlen, MC, López López, M, Alonso Vilatela, ME

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New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia by Machuca-Tzili, L, Monroy-Jaramillo, N, González-del Angel, A, Kofman-Alfaro, S

“…Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal disorder exhibiting a wide clinical spectrum ranging from minimal anomalies to classic CCD…”
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Frequency of single nucleotide polymorphisms and alpha-synuclein haplotypes associated with sporadic Parkinson's disease in the Mexican population by Davila-Ortiz de Montellano, D J, Rodriguez-Violante, M, Fresan, A, Monroy-Jaramillo, N, Yescas-Gomez, P

“…Parkinson's disease (PD) is a common neurodegenerative disease which begins in adulthood. Its incidence in Mexico is estimated to be 40-50 cases per 100,000…”
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Del Xq23 in a Mosaic Turner Female: Molecular and Cytogenetic Studies by Mesa-Cornejo, Viviana Matilde, García-Cruz, Diana, Monroy-Jaramillo, Nancy, Vásquez, Ana Isabel, Dávalos, Nory Omayra, Galaviz, Carlos, Kofman, Susana

“…We report a Turner patient aged 22 years with a 45,X/46,X,del(X)(q23) karyotype. Late replication studies showed preferential inactivation of the deleted X…”
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