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

Evaluation of pathogenic variants detected in high homology regions of the PMS2 gene. How effective is long-range PCR?

对PMS2基因高同源性区域中检测到的致病性变异进行评估。长片段PCR的有效性如何?

Paixão, Daniele; Lima, Thalitta Hetamaro Ayala; de Souza, Rafaela Rogério Floriano; Carnavalli, Juliana Emilia Prior; Picanço-Albuquerque, Clarissa Gondim; Silva-Fernandes, Isabelle Joyce de Lima; de Barros Silva, Paulo Goberlânio; Mitne-Neto, Miguel; Moreira, Caroline Mônaco; Baratela, Wagner Antônio da Rosa

Development and cross-sectional morphology of the recurrent laryngeal nerves in human fetuses

人类胎儿喉返神经的发育和横截面形态

Baratela, Maria Cecília; Mayer, William Paganini; Baptista, Josemberg da Silva

Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study

软骨发育不全对医疗并发症和健康相关生活质量的影响以及对沃索利肽长期疗效的预期:一项改良的德尔菲研究

Savarirayan, Ravi; Baratela, Wagner; Butt, Thomas; Cormier-Daire, Valérie; Irving, Melita; Miller, Bradley S; Mohnike, Klaus; Ozono, Keiichi; Rosenfeld, Ron; Selicorni, Angelo; Thompson, Dominic; White, Klane K; Wright, Michael; Fredwall, Svein O

Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients

拉丁美洲软骨发育不全:儿科患者多学科护理的实用建议

Llerena, Juan Jr; Kim, Chong Ae; Fano, Virginia; Rosselli, Pablo; Collett-Solberg, Paulo Ferrez; de Medeiros, Paula Frassinetti Vasconcelos; Del Pino, Mariana; Bertola, Débora; Lourenço, Charles Marques; Cavalcanti, Denise Pontes; Félix, Têmis Maria; Rosa-Bellas, Antonio; Rossi, Norma Teresa; Cortes, Fanny; Abreu, Flávia; Cavalcanti, Nicolette; Ruz, Maria Cecilia Hervias; Baratela, Wagner

ODP547 Familial Carney Complex: Follow Up of a Family With Negative PRKAR1A Genetic Screening

ODP547 家族性卡尼综合征:PRKAR1A 基因筛查阴性家族的随访

Montacer, Khaoula El; Haddad, Fouad; Kharbachi, Fz; Tahiri, Mohammed; Hliwa, Wafaa; Bellabah, Ahmed; Badre, Wafaa; Araújo, Jacqueline Montalvão; Cançado, Natalia Amaral; Cherniauskas de Souza Morikawa, Vanessa; Asato, Marilia Tomiyoshi; Antonio da Rosa Baratela, Wagner; Bueno, Cristina Belotti Formiga; da Cunha Scalço Tirapelli, Renata; Dolci, Ricardo Landini Lutaif; Leite dos Santos, Americo Rubens; da Silva, Maria Antonieta Longo Galvão; Krakauer, Rogerio; Scalissi, Nilza Maria; Lima Junior, Jose Viana

Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases

外显子组测序和靶向基因panel:基于158例罕见病患者数据的诊断效能模拟比较

Quaio, Caio Robledo D'Angioli Costa; Obando, María José Rivadeneira; Perazzio, Sandro Felix; Dutra, Aurelio Pimenta; Chung, Christine Hsiaoyun; Moreira, Caroline Monaco; Novo Filho, Gil Monteiro; Sacramento-Bobotis, Patricia Rossi; Penna, Michele Groenner; Souza, Rafaela Rogerio Floriano de; Cintra, Vivian Pedigone; Carnavalli, Juliana Emilia Prior; Silva, Rafael Alves da; Santos, Monize Nakamoto Provisor; Paixão, Daniele; Baratela, Wagner Antonio da Rosa; Olivati, Caroline; Spolador, Gustavo Marquezani; Pintao, Maria Carolina; Fornari, Alexandre Ricardo Dos Santos; Burger, Matheus; Ramalho, Rodrigo Fernandes; Pereira, Otavio Jose Eulalio; Ferreira, Elisa Napolitano E; Mitne-Neto, Miguel; Kim, Chong Ae

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

GGC 重复扩增和 XYLT1 外显子 1 甲基化是 Baratela-Scott 综合征的常见致病变异

Amy J LaCroix, Deborah Stabley, Rebecca Sahraoui, Margaret P Adam, Michele Mehaffey, Kelly Kernan, Candace T Myers, Carrie Fagerstrom, George Anadiotis, Yassmine M Akkari, Katherine M Robbins, Karen W Gripp, Wagner A R Baratela, Michael B Bober, Angela L Duker, Dan Doherty, Jennifer C Dempsey, Danie

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

染色质重塑因子BPTF的单倍体不足会导致综合征性发育和语言迟缓、出生后小头畸形和面部畸形。

Paweł Stankiewicz,Tahir N Khan,Przemyslaw Szafranski,Leah Slattery,Haley Streff,Francesco Vetrini,Jonathan A Bernstein,Chester W Brown,Jill A Rosenfeld,Surya Rednam,Sarah Scollon,Katie L Bergstrom,Donald W Parsons,Sharon E Plon,Marta W Vieira,Caio R D C Quaio,Wagner A R Baratela,Johanna C Acosta Guio,Ruth Armstrong,Sarju G Mehta,Patrick Rump,Rolph Pfundt,Raymond Lewandowski,Erica M Fernandes,Deepali N Shinde,Sha Tang,Juliane Hoyer,Christiane Zweier,André Reis,Carlos A Bacino,Rui Xiao,Amy M Breman,Janice L Smith

Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology

基于 Ion Torrent 技术的 BRCA1 和 BRCA2 基因变异检测工作流程的开发和验证及其临床应用

Ana Lígia Buzolin, Caroline Mônaco Moreira, Patricia Rossi Sacramento, Andre Yuji Oku, Alexandre Ricardo Dos Santos Fornari, David Santos Marco Antonio, Caio Robledo D Angioli Costa Quaio, Wagner Rosa Baratela, Miguel Mitne-Neto

Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

Stüve-Wiedemann综合征:临床和遗传学方面的最新进展

Romeo Bertola, Débora; Honjo, Rachel S; Baratela, Wagner A R