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

Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes

全基因组测序揭示了9p染色体综合征的个体和群体层面信息

Wang, Yingxi; Sams, Eleanor I; Slaugh, Rachel; Crocker, Sandra; Hurtado, Emily Cordova; Tracy, Sophia; Hou, Ying-Chen Claire; Markovic, Christopher; Valle, Kostandin; Tate, Victoria; Belhassan, Khadija; Appelbaum, Elizabeth; Akinwe, Titilope; Tzovenos, Rodrigo Starosta; Cao, Yang; Neilson, Amber; Liu, Yu; Jensen, Nathaniel; Ghasemi, Reza; Lindsay, Tina; Manuel, Juana; Couteranis, Sophia; Kremitzki, Milinn; Ustanik, Jack; Antonacci, Thomas; Ng, Jeffrey K; Emory, Andrew; Metz, Laura; DeLuca, Tracie; Lyons, Katherine N; Sinnwell, Toni; Thomeczek, Brianne; Wang, Kymme; Sisneros, Nick; Muraleedharan, Megha; Kethireddy, Anantha; Corbo, Marco; Gowda, Harsha; King, Katherine; Gurnett, Christina A; Dutcher, Susan K; Gooch, Catherine; Li, Yang E; Mitchell, Matthew W; Peterson, Kevin A; Horani, Amjad; Rosenfeld, Jill A; Bi, Weimin; Stankiewicz, Pawel; Chao, Hsiao-Tuan; Posey, Jennifer; Grochowski, Christopher M; Dardas, Zain; Puffenberger, Erik; Pearson, Christopher E; Kooy, Frank; Annear, Dale; Innes, A Micheil; Heinz, Michael; Head, Richard; Fulton, Robert; Toutain, Stephan; Antonacci-Fulton, Lucinda; Cui, Xiaoxia; Mitra, Robi D; Cole, F Sessions; Neidich, Julie; Dickson, Patricia I; Milbrandt, Jeffrey; Turner, Tychele N

Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome

利用一种新的分析方法对9p染色体缺失综合征进行基因分型和表型分析

Starosta, Rodrigo Tzovenos; Jensen, Nathaniel; Couteranis, Sophia; Slaugh, Rachel; Easterlin, Dawn; Tate, Victoria; Sams, Eleanor I; Valle, Kostandin; Akinwe, Titilope; Hou, Ying-Chen Claire; Turner, Tychele N; Cole, F Sessions; Milbrandt, Jeffrey; Dickson, Patricia

DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype

DDOST-CDG:第三名患者的临床和分子特征,其症状较轻,且主要表现为运动障碍

Ibrahim Elsharkawi, Parith Wongkittichote, Earnest James Paul Daniel, Rodrigo Tzovenos Starosta, Keisuke Ueda, Bobby G Ng, Hudson H Freeze, Miao He, Marwan Shinawi

A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study

糖原贮积症IV型患者的广泛特征:一项临床、遗传和组织病理学研究

Wilke, Matheus Vernet Machado Bressan; de Oliveira, Bibiana Mello; Starosta, Rodrigo Tzovenos; Shinawi, Marwan; Lu, Liang; He, Mai; Ma, Yamin; Stoll, Janis; de Souza, Carolina Fischinger Moura; de Siqueira, Ana Cecilia Menezes; Vieira, Sandra Maria Gonçalves; Cerski, Carlos Thadeu; Refosco, Lilia Farret; Schwartz, Ida Vanessa Doederlein

PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations

PIGO-CDG:一种新的基因型、表型扩展、文献综述和疾病分类学考量的案例研究

Starosta, Rodrigo Tzovenos; Kerashvili, Nino; Pruitt, Cassandra; Schultz, Matthew J; Boyer, Suzanne W; Morava, Eva; Lasio, Maria Laura Duque; Grange, Dorothy K

Nuclear morphometry and chromatin texture changes in hepatocellular carcinoma samples may predict outcomes of liver transplanted patients

肝细胞癌样本的核形态测量和染色质纹理变化可能预测肝移植患者的预后

Dos Santos, Jordan Boeira; Starosta, Rodrigo Tzovenos; Pilar, Emily Ferreira Salles; Kunz, Jefferson Daniel; Tomedi, Joelson; Cerski, Carlos Thadeu Schmidt; Ruppenthal, Rúbia Denise

Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations

婴儿期发病的庞贝病合并镰状细胞贫血:病例报告及治疗考虑

Starosta, Rodrigo Tzovenos; Hou, Ying-Chen Claire; Leestma, Katelyn; Singh, Prapti; Viehl, Luke; Manwaring, Linda; Granadillo, Jorge Luis; Schroeder, Molly C; Colombo, Jamie N; Whitehead, Halana; Dickson, Patricia Irene; Hulbert, Monica L; Nguyen, Hoanh Thi

Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up

39例先天性糖基化障碍患者的肝脏表现:明确肝损伤特征并提出随访建议

Starosta, Rodrigo Tzovenos; Boyer, Suzanne; Tahata, Shawn; Raymond, Kimiyo; Lee, Hee Eun; Wolfe, Lynne A; Lam, Christina; Edmondson, Andrew C; Schwartz, Ida Vanessa Doederlein; Morava, Eva

Histomorphometric analysis of liver biopsies of treated patients with Gaucher disease type 1

对接受治疗的戈谢病1型患者肝脏活检组织进行组织形态计量学分析

Starosta, Rodrigo Tzovenos; Siebert, Marina; Vairo, Filippo Pinto E; Costa, Bruno Lafaiete de Lima; Ponzoni, Christiano Tomaso; Schwartz, Ida Vanessa Doederlein; Cerski, Carlos Thadeu Schmidt

Liver involvement in patients with Gaucher disease types I and III

戈谢病I型和III型患者的肝脏受累情况

Starosta, Rodrigo Tzovenos; Vairo, Filippo Pinto E; Dornelles, Alícia Dorneles; Basgalupp, Suélen Porto; Siebert, Marina; Pedroso, Maria Lúcia Alves; Cerski, Carlos Thadeu Schmidt; Álvares-da-Silva, Mário Reis; Schwartz, Ida Vanessa Doederlein