Clinicopathological features of Egyptian colorectal cancer patients regarding somatic genetic mutations especially in KRAS gene and microsatellite instability status: a pilot study

by Neemat M. Kassem, Gamal Emera, Hebatallah A. Kassem, Nashwa Medhat, Basant Nagdy, Mustafa Tareq, Rabab Abdel Moneim, Mohammed Abdulla, Wafaa H. El Metenawy
Published 2019-11-01

Targeted next-generation sequencing identifies clinically relevant somatic mutations in a large cohort of inflammatory breast cancer

by Xu Liang, Sophie Vacher, Anais Boulai, Virginie Bernard, Sylvain Baulande, Mylene Bohec, Ivan Bièche, Florence Lerebours, Céline Callens
Published 2018-08-01

Simultaneous Methylation-Level Assessment of Hundreds of CpG Sites by Targeted Bisulfite PCR Sequencing (TBPseq)

by Kyuheum Jeon, Kyuheum Jeon, Byungkuk Min, Jung S. Park, Yong-Kook Kang, Yong-Kook Kang
Published 2017-07-01

STRN-ALK Fusion in Lung Adenocarcinoma with Excellent Response Upon Alectinib Treatment: A Case Report and Literature Review

by Su C, Jiang Y, Jiang W, Wang H, Liu S, Shao Y, Zhao W, Ning R, Yu Q
Published 2020-12-01

Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next‐generation sequencing technology

by Tao Wang, Qinggang Li, Shunlai Shang, Guangrui Geng, Yuansheng Xie, Guangyan Cai, Xiangmei Chen
Published 2019-06-01

Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis

by Yah-Huei Wu-Chou, Tzu-Chao Hung, Yin-Ting Lin, Hsing-Wen Cheng, Ju-Li Lin, Chih-Hung Lin, Chung-Chih Yu, Kuo-Ting Chen, Tu-Hsueh Yeh, Yu-Ray Chen
Published 2018-10-01

Molecular profiling of hormone receptor-positive, HER2-negative breast cancers from patients treated with neoadjuvant endocrine therapy in the CARMINA 02 trial (UCBG-0609)

by Xu Liang, Adrien Briaux, Véronique Becette, Camille Benoist, Anais Boulai, Walid Chemlali, Anne Schnitzler, Sylvain Baulande, Sofia Rivera, Marie-Ange Mouret-Reynier, Laurence Venat Bouvet, Thibaut De La Motte Rouge, Jérôme Lemonnier, Florence Lerebours, Céline Callens
Published 2018-10-01

Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report

by Hairong Wang, Yang Wan, Yun Yang, Hao Li, Liangwei Mao, Shuyang Gao, Jingjing Xu, Jing Wang
Published 2019-07-01

A Novel FLCN Intragenic Deletion Identified by NGS in a BHDS Family and Literature Review

by Minghui Cai, Xinxin Zhang, Lizhen Fan, Shuwen Cheng, Abdukahar Kiram, Shaoqin Cen, Baofu Chen, Minhua Ye, Qian Gao, Chengchu Zhu, Long Yi, Long Yi, Dehua Ma
Published 2021-04-01

Identification of Three Novel Frameshift Mutations in the PKD1 Gene in Iranian Families with Autosomal Dominant Polycystic Kidney Disease Using Efficient Targeted Next-Generation S...

by Fariba Ranjzad, Nasser Aghdami, Ahmad Tara, Marzieh Mohseni, Reza Moghadasali, Abbas Basiri
Published 2018-03-01

A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report

by Hai-rong Wang, Yan-qiu Liu, Xue-lian He, Jun Sun, Fan-wei Zeng, Cheng-bin Yan, Hao Li, Shu-yang Gao, Yun Yang
Published 2020-08-01

Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study

by Elisa Fermo, Cristina Vercellati, Anna Paola Marcello, Ebru Yilmaz Keskin, Silverio Perrotta, Anna Zaninoni, Valentina Brancaleoni, Alberto Zanella, Juri A. Giannotta, Wilma Barcellini, Paola Bianchi
Published 2021-05-01

SGCD Homozygous Nonsense Mutation (p.Arg97∗) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report

by Muhammad Younus, Muhammad Younus, Farooq Ahmad, Erum Malik, Muhammad Bilal, Mehran Kausar, Mehran Kausar, Safdar Abbas, Shabnam Shaheen, Mohib Ullah Kakar, Majid Alfadhel, Majid Alfadhel, Muhammad Umair, Muhammad Umair
Published 2019-01-01

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)

by Anna Skorczyk-Werner, Zuzanna Niedziela, Marcin Stopa, Maciej Robert Krawczyński
Published 2020-12-01

Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection

by Abeer E. Mustafa, Tariq Faquih, Batoul Baz, Rana Kattan, Abdulelah Al-Issa, Asma I. Tahir, Faiqa Imtiaz, Khushnooda Ramzan, Moeenaldeen Al-Sayed, Mohammed Alowain, Zuhair Al-Hassnan, Hamad Al-Zaidan, Mohamed Abouelhoda, Bashayer R. Al-Mubarak, Nada A. Al Tassan
Published 2018-05-01

Genotyping data of routinely processed matched primary/metastatic tumor samples

by Vassiliki Kotoula, Kyriakos Chatzopoulos, Kyriaki Papadopoulou, Eleni Giannoulatou, Georgia-Angeliki Koliou, Vasilios Karavasilis, Elissavet Pazarli, Stavroula Pervana, Georgia Kafiri, Georgios Tsoulfas, Sofia Chrisafi, Helen Sgouramali, Pavlos Papakostas, Dimitrios Pectasides, Prodromos Hytiroglou, George Pentheroudakis, George Fountzilas
Published 2021-02-01