Emiy相关文献与解析，生知库 | 链接生命科学的每一步

Guerra, Enrique C; Beutelspacher-Fernandez, Kerstin; Silva-Estrada, Jorge A; Santa-Ana-Bayona, Maria Jose; Martinez-Dominguez, Pavel; Agredano-Chavez, Cristina P; Pardiño-Vega, Miguel Angel; Yanez-Felix, Ana Lucia; Yokoyama-Rebollar, Emiy; Espinola-Zavaleta, Nilda

发表日期：2024

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Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico

遗传性骨髓衰竭综合征：表型作为墨西哥一家大型参考中心早期诊断怀疑的工具

期刊:Frontiers in Genetics

影响因子:2.8

doi:10.3389/fgene.2023.1293929

Leal-Anaya, Paula; Kimball, Tamara N; Yanez-Felix, Ana Lucia; Fiesco-Roa, Moisés Ó; García-de Teresa, Benilde; Monsiváis, Angélica; Juárez-Velázquez, Rocío; Lieberman, Esther; Villarroel, Camilo; Yokoyama, Emiy; Fernández-Hernández, Liliana; Rivera-Osorio, Anet; Sosa, David; Ortiz Sandoval, Maria Magdalena; López-Santiago, Norma; Frías, Sara; Del Castillo, Victoria; Rodríguez, Alfredo

发表日期：2023

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Frequent copy number variants in a cohort of Mexican-Mestizo individuals

墨西哥-混血人群中频繁出现的拷贝数变异

期刊:Molecular Cytogenetics

影响因子:1.3

doi:10.1186/s13039-022-00631-z

Silvia Sánchez, Ulises Juárez, Julieta Domínguez, Bertha Molina, Rehotbevely Barrientos, Angélica Martínez-Hernández, Alessandra Carnevale, Patricia Grether-González, Dora Gilda Mayen, Camilo Villarroel, Esther Lieberman, Emiy Yokoyama, Victoria Del Castillo, Leda Torres, Sara Frias1

发表日期：2023

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First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations

墨西哥 PACS1 相关神经发育障碍患者的首份报告以及 PACS1、PACS2 和 WDR37 相关眼科表现的回顾

期刊:Molecular Syndromology

影响因子:0.9

doi:10.1159/000526975

Jorge Román Corona-Rivera, Juan Carlos Zenteno, Leopoldo Gildardo López-Pérez, Emiy Yokoyama-Rebollar, Camilo E Villarroel, Tania Barragán-Arévalo, Luis Ángel Montes-Almanza, Luz Consuelo Zepeda-Romero, Guadalupe Elena Morales-Domínguez, Christian Peña-Padilla, Lucina Bobadilla-Morales, Alfredo Coro

神经

发表日期：2023

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Cryptorchidism and Testicular Tumor: Comprehensive Analysis of Common Clinical Features and Search of SNVs in the KIT and AR Genes

隐睾症和睾丸肿瘤：常见临床特征的综合分析及KIT和AR基因中SNV的检测

期刊:Frontiers in Cell and Developmental Biology

影响因子:4.3

doi:10.3389/fcell.2020.00762

Landero-Huerta, Daniel Adrian; Vigueras-Villaseñor, Rosa María; Yokoyama-Rebollar, Emiy; García-Andrade, Fabiola; Rojas-Castañeda, Julio César; Herrera-Montalvo, Luis Alonso; Díaz-Chávez, José; Pérez-Añorve, Isidro Xavier; Aréchaga-Ocampo, Elena; Chávez-Saldaña, Margarita Dolores

Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review

杜安氏回缩综合征患者非经典型1p36缺失：病例报告及文献综述

期刊:Molecular Cytogenetics

影响因子:1.4

doi:10.1186/s13039-020-00510-5

Yokoyama, Emiy; Villarroel, Camilo E; Diaz, Sinhué; Del Castillo, Victoria; Pérez-Vera, Patricia; Salas, Consuelo; Gómez, Samuel; Barreda, Reneé; Molina, Bertha; Frias, Sara

发表日期：2020

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Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics

使用传统细胞遗传学方法无法发现涉及 5p 大重排片段的衍生染色体

期刊:Molecular Cytogenetics

影响因子:1.3

doi:10.1186/s13039-018-0374-4

Emiy Yokoyama, Victoria Del Castillo, Silvia Sánchez, Sandra Ramos, Bertha Molina, Leda Torres, María José Navarro, Silvia Avila, José Luis Castrillo, Benilde García-De Teresa, Bárbara Asch, Sara Frías

Epilepsy and concomitant obsessive-compulsive disorder

癫痫和伴随的强迫症

期刊:Epilepsy and Behavior Case Reports

影响因子:

doi:10.1016/j.ebcr.2018.07.001

Bird, Jacob S; Shah, Emiy; Shotbolt, Paul

7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype

7p15缺失是手足生殖器综合征的病因：病例报告、文献综述及该表型最小区域的提出

期刊:Molecular Cytogenetics

影响因子:1.4

doi:10.1186/s13039-017-0345-1

Yokoyama, Emiy; Smith-Pellegrin, Dennise Lesley; Sánchez, Silvia; Molina, Bertha; Rodríguez, Alfredo; Juárez, Rocío; Lieberman, Esther; Avila, Silvia; Castrillo, José Luis; Del Castillo, Victoria; Frías, Sara

发表日期：2017

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Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization

由家族性易位引起的安格曼综合征：基于微阵列的比较基因组杂交技术揭示的意外额外结果

期刊:Molecular Cytogenetics

影响因子:1.3

doi:10.1186/s13039-015-0127-6.

Emiy Yokoyama-Rebollar ,Adriana Ruiz-Herrera ,Esther Lieberman-Hernández ,Victoria Del Castillo-Ruiz ,Silvia Sánchez-Sandoval ,Silvia M Ávila-Flores ,José Luis Castrillo

发表日期：2015

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Danon Disease in a 14-Year-Old: An Exclusively Cardiac Phenotype

14岁青少年达农病：一种纯粹的心脏表型

Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico

遗传性骨髓衰竭综合征：表型作为墨西哥一家大型参考中心早期诊断怀疑的工具

Frequent copy number variants in a cohort of Mexican-Mestizo individuals

墨西哥-混血人群中频繁出现的拷贝数变异

First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations

墨西哥 PACS1 相关神经发育障碍患者的首份报告以及 PACS1、PACS2 和 WDR37 相关眼科表现的回顾

Cryptorchidism and Testicular Tumor: Comprehensive Analysis of Common Clinical Features and Search of SNVs in the KIT and AR Genes

隐睾症和睾丸肿瘤：常见临床特征的综合分析及KIT和AR基因中SNV的检测

Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review

杜安氏回缩综合征患者非经典型1p36缺失：病例报告及文献综述

Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics

使用传统细胞遗传学方法无法发现涉及 5p 大重排片段的衍生染色体

Epilepsy and concomitant obsessive-compulsive disorder

癫痫和伴随的强迫症

7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype

7p15缺失是手足生殖器综合征的病因：病例报告、文献综述及该表型最小区域的提出

Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization

由家族性易位引起的安格曼综合征：基于微阵列的比较基因组杂交技术揭示的意外额外结果