Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3

por Pouria Mohammadi, Elham Salehi Siavashani, Mohammad Farid Mohammadi, Afshin Bahramy, Navid Almadani, Masoud Garshasbi
Publicado 2021

Phenotypes, Lung Microbiota and Cytokine Responses in Pneumonia After Hematopoietic Stem Cell Transplantation

por Hu Y, Jiang Y, Liu S, Shen J, An Y
Publicado 2021

Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy

por Hui Chen, Shaukat Khan, Betul Celik, Yasuyuki Suzuki, Yasuhiko Ago, Shunji Tomatsu
Publicado 2021

Association Between the Interferon-γ +874 T/A Polymorphism and the Risk and Clinical Manifestations of Systemic Lupus Erythematosus: A Preliminary Study

por Liu S, Li J, Li Y, Liu Y, Wang K, Pan W
Publicado 2021

A Prospective Observational Study of Osimertinib for Chemo-Naive Elderly Patients with EGFR Mutation-Positive Non-Small Cell Lung Cancer

por Igawa S, Kasajima M, Ono T, Ozawa T, Kakegawa M, Kusuhara S, Sato T, Nakahara Y, Fukui T, Yokoba M, Kubota M, Mitsufuji H, Sasaki J, Naoki K
Publicado 2021

The Network of Pro-Inflammatory Factors CD147, DcR3, and IL33 in the Development of Kawasaki Disease

por Qi Y, Xu J, Lin Z, Tao Y, Zheng F, Wang Y, Sun Y, Fu S, Wang W, Xie C, Zhang Y, Gong F
Publicado 2021

Identification of novel ACAN mutations in two Chinese families and genotype–phenotype correlation in patients with 74 pathogenic ACAN variations

por Ming Wei, Yanqin Ying, Zhuxi Li, Ying Weng, Xiaoping Luo
Publicado 2021

Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C

por Lucie Tosca, Loïc Drévillon, Aurélie Mouka, Laure Lecerf, Audrey Briand, Valérie Ortonne, Virginie Benoit, Sophie Brisset, Lionel Van Maldergem, Quitterie Laudouar, Solveig Heide, Michel Goossens, Irina Giurgea, Gérard Tachdjian, Corinne Métay
Publicado 2021

Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11

por Ana Latorre‐Pellicer, Ángela Ascaso, Cristina Lucia‐Campos, Marta Gil‐Salvador, María Arnedo, Rebeca Antoñanzas, Ariadna Ayerza‐Casas, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Feliciano J. Ramos, Juan Pié, Beatriz Puisac
Publicado 2021

Rapid high‐resolution melting method to identify human leukocyte antigen‐G (HLA‐G) 3′ untranslated region polymorphism +3142C/G (rs1063320)

por Hamza Ben Salah, Refka Jelassi, Ines Zidi, Amor Ben Amor, Sondes Bizid, Radhia Ammi, Lamia Guizani, Aida Bouratbine, Karim Aoun, Hanen Chelbi
Publicado 2021

Comparison of 3D Digitally Assisted Visualization System with Current Standard Visualization for the Removal of Vitreous in a Preclinical Model

por Mura M, Martin W, Williams KK, Abulon DJK
Publicado 2021

Aberrant Fluid Shear Stress Contributes to Articular Cartilage Pathogenesis via Epigenetic Regulation of ZBTB20 by H3K4me3

por Jin Y, Li Z, Wu Y, Li H, Liu Z, Liu L, Ouyang N, Zhou T, Fang B, Xia L
Publicado 2021

Epidemiology of variant transthyretin amyloidosis at a reference center in Argentina

por Maria S. Saez, Maria A. Aguirre, Diego Pérez de Arenaza, Patricia Sorroche, Elsa Nucifora, Maria L. Posadas Martinez
Publicado 2021

Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study

por Yue Yu, Ruixue Shuai, Lili Liang, Wenjuan Qiu, Linghua Shen, Shengnan Wu, Haiyan Wei, Yongxing Chen, Chiju Yang, Peng Xu, Xigui Chen, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Jun Ye, Huiwen Zhang, Deyun Lu, Zhuwen Gong, Xia Zhan, Wenjun Ji, Xuefan Gu, Lianshu Han
Publicado 2021

Analysis of PLXNA1, NRP1, and NRP2 variants in a cohort of patients with isolated hypogonadotropic hypogonadism

por Meichao Men, Dan‐Na Chen, Jia‐Da Li, Xinying Wang, Wang Zeng, Fang Jiang, Ruizhi Zheng, Wenting Dai
Publicado 2021

Determinants of Overweight Among Primary School Children in Arba Minch Town, Southern Ethiopia, 2021

por Ezo E, Gashawbeza B
Publicado 2021

A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus...

por Bertrand Chesneau, Aurélie Plancke, Guillaume Rolland, Bertrand Marcheix, Yves Dulac, Thomas Edouard, Julie Plaisancié, Marion Aubert‐Mucca, Sophie Julia, Maud Langeois, Thierry Lavabre‐Bertrand, Philippe Khau Van Kien
Publicado 2021

Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review

por Jill K. Tjon, Phillis Lakeman, Elisabeth vanLeeuwen, Quinten Waisfisz, Marjan M. Weiss, Gita M. B. Tan‐Sindhunata, Peter G. J. Nikkels, Patrick J. P. van derVoorn, Gajja S. Salomons, George L. Burchell, Ingeborg H. Linskens, Bloeme J. van derKnoop, Johanna I. P. deVries
Publicado 2021

Update on a previously reported missense mutation: The c.1160 C>A mutation in the UGT1A1 gene result in Crigler–Najjar syndrome type 1

por Mohammad Javad Ghorbani, Seyed Mohsen Dehghani
Publicado 2021

PM2.5 Aggravated OVA-Induced Epithelial Tight Junction Disruption Through Fas Associated via Death Domain-Dependent Apoptosis in Asthmatic Mice

por He X, Zhang L, Hu L, Liu S, Xiong A, Wang J, Xiong Y, Li G
Publicado 2021