日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

The tight bond between Fanconi anemia and aging

范可尼贫血与衰老之间的紧密联系

Mejía-Barrera, Marco Antonio; Martínez-Torres, Enya Enara; Juárez-Figueroa, Ulises; Torres, Leda; Fiesco-Roa, Moisés O; García-de-Teresa, Benilde; Gomez-Verjan, Juan Carlos; Meléndez-Zajgla, Jorge; Rodríguez, Alfredo; Sánchez, Silvia; Molina, Bertha; Frias, Sara

BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

BRCA1、BRCA2 和 PALB2 相关范可尼贫血:拓展疾病表型特征并预测杂合子乳腺癌风险的潜力

Johnatty, Sharon E; Tudini, Emma; Parsons, Michael T; Michailidou, Kyriaki; Zanti, Maria; Canson, Daffodil M; Davidson, Aimee L; Berger, Tamar; Rosti, Rasim Ozgur; Kratz, Christian P; Kalb, Reinhard; McReynolds, Lisa J; Giri, Neelam; Richardson, Marcy E; Pesaran, Tina; Surrallés, Jordi; Pujol, Roser; Vundinti, Babu Rao; George, Merin; Maxwell, Kara N; Nathanson, Kate; Domchek, Susan; Fiesco-Roa, Moisés Ó; Frias, Sara; García-de-Teresa, Benilde; Jongmans, Marjolijn; Lalani, Seema; Maiburg, Merel; Prescott, Katrina; Robinson, Rachel; Rajagopalan, Sulekha; Blok, Lot Snijders; Temple, Suzanna E L; Tucker, Kathy; Auerbach, Arleen D; Cancio, Maria I; Kennedy, Jennifer A; MacMillan, Margaret L; Tryon, Rebecca; Wagner, John E; Walsh, Michael; Boddicker, Nicholas J; Hu, Chunling; Weitzel, Jeffrey N; Dingemans, Alexander J M; Hadler, Johanna; Rotenberg, Nitsan; Ramadane-Morchadi, Lobna; Hoya, Miguel de la; James, Paul; Van Overeem Hansen, Thomas; Vreeswijk, Maaike P G; Walker, Logan C; Sharan, Shyam K; Easton, Douglas F; Couch, Fergus; Smogorzewska, Agata; Nelson, Adam; Ngeow, Joanne; Tischkowitz, Marc; Gomez-Garcia, Encarnacion; Spurdle, Amanda B

High Burden of Non-Clonal Chromosome Aberrations Before Onset of Detectable Neoplasia in Fanconi Anemia Bone Marrow

范可尼贫血骨髓中,在出现可检测肿瘤之前,非克隆性染色体畸变负荷较高

Sánchez, Silvia; García-de-Teresa, Benilde; Mejía-Barrera, Marco A; Reyes-Jiménez, Pedro V; Paz-Martínez, Antonio; Martínez, Miguel A; Fiesco-Roa, Moisés Ó; Monsiváis-Orozco, Angélica; Molina, Bertha; Torres, Leda; Rodríguez, Alfredo; Frias, Sara

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

对 BRCA1、BRCA2 和 PALB2 相关范可尼贫血症的分析表明,可以扩展疾病表型特征并预测杂合子患乳腺癌的风险。

Johnatty, Sharon E; Tudini, Emma; Parsons, Michael T; Michailidou, Kyriaki; Zanti, Maria; Canson, Daffodil; Davidson, Aimee L; Berger, Tamar; Rosti, Rasim Ozgur; Kratz, Christian P; Kalb, Reinhard; McReynolds, Lisa J; Giri, Neelam; Richardson, Marcy; Pesaran, Tina; Surrallés, Jordi; Pujol, Roser; Vundinti, Babu Rao; George, Merin; Maxwell, Kara N; Nathanson, Kate; Domchek, Susan; Fiesco-Roa, Moisés Ó; Frias, Sara; Garcia-de-Teresa, Benilde; Jongmans, Marjolijn; Lalani, Seema; Maiburg, Merel; Prescott, Katrina; Robinson, Rachel; Rajagopalan, Sulekha; Blok, Lot Snijders; Temple, Suzanna E L; Tucker, Kathy; Auerbach, Arleen D; Cancio, Maria I; Kennedy, Jennifer A; MacMillan, Margaret L; Tryon, Rebecca; Wagner, John E; Walsh, Michael; Boddicker, Nicholas J; Hu, Chunling; Weitzel, Jeffrey N; Dingemans, Alexander J M; Hadler, Johanna; Rotenberg, Nitsan; Ramadane-Morchadi, Lobna; de la Hoya, Miguel; James, Paul; Van Overeem Hansen, Thomas; Vreeswijk, Maaike P G; Walker, Logan C; Sharan, Shyam K; Easton, Douglas F; Couch, Fergus; Smogorzewska, Agata; Nelson, Adam; Ngeow, Joanne; Tischkowitz, Marc; Gomez-Garcia, Encarnacion; Spurdle, Amanda B

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

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

Fanconi Anemia Patients from an Indigenous Community in Mexico Carry a New Founder Pathogenic Variant in FANCG

来自墨西哥一个土著社区的范可尼贫血症患者携带FANCG基因中的一种新的致病性创始变异。

Reyes, Pedro; García-de Teresa, Benilde; Juárez, Ulises; Pérez-Villatoro, Fernando; Fiesco-Roa, Moisés O; Rodríguez, Alfredo; Molina, Bertha; Villarreal-Molina, María Teresa; Meléndez-Zajgla, Jorge; Carnevale, Alessandra; Torres, Leda; Frias, Sara

Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability

范可尼贫血和先天性角化不良/端粒生物学疾病:两种伴有基因组不稳定性遗传性骨髓衰竭综合征

Fiesco-Roa, Moisés Ó; García-de Teresa, Benilde; Leal-Anaya, Paula; van 't Hek, Renée; Wegman-Ostrosky, Talia; Frías, Sara; Rodríguez, Alfredo

Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center

四氢生物蝶呤代谢缺陷的基因型谱:墨西哥单一参考中心的经验

Vela-Amieva, M; Alcántara-Ortigoza, M A; Ibarra-González, I; González-Del Angel, A; Fernández-Hernández, L; Guillén-López, S; López-Mejía, L; Carrillo-Nieto, R I; Fiesco-Roa, M O; Fernández-Lainez, C

ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele

ALG1-CDG 由涉及新型致病复合等位基因的非功能性可变剪接引起

Carlos Alberto González-Domínguez, Moisés O Fiesco-Roa, Samuel Gómez-Carmona, Anke Paula Ingrid Kleinert-Altamirano, Miao He, Earnest James Paul Daniel, Kimiyo M Raymond, Melania Abreu-González, Sandra Manrique-Hernández, Ana González-Jaimes, Roberta Salinas-Marín, Carolina Molina-Garay, Karol Carri

Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele

更正:ALG1-CDG是由涉及新型致病复合等位基因的非功能性选择性剪接引起的

González-Domínguez, Carlos Alberto; Fiesco-Roa, Moisés O; Gómez-Carmona, Samuel; Kleinert-Altamirano, Anke Paula Ingrid; He, Miao; Daniel, Earnest James Paul; Raymond, Kimiyo M; Abreu-González, Melania; Manrique-Hernández, Sandra; González-Jaimes, Ana; Salinas-Marín, Roberta; Molina-Garay, Carolina; Carrillo-Sánchez, Karol; Flores-Lagunes, Luis Leonardo; Jiménez-Olivares, Marco; Muñoz-Rivas, Anallely; Cruz-Muñoz, Mario E; Ruíz-García, Matilde; Freeze, Hudson H; Mora-Montes, Héctor M; Alaez-Verson, Carmen; Martínez-Duncker, Iván