scholarly journals A novel pathogenic splice site variation in STK11 gene results in Peutz–Jeghers syndrome

2021 ◽  
Author(s):  
Na Zhao ◽  
Huizhi Wu ◽  
Ping Li ◽  
Yuxian Wang ◽  
Li Dong ◽  
...  
Keyword(s):  
Splice Site ◽  
Stk11 Gene ◽  
Site Variation ◽  
Peutz Jeghers Syndrome

scholarly journals A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Chinese patients

2011 ◽  
Vol 12 (1) ◽  
Author(s):  
Zhiqing Wang ◽  
Yulan Chen ◽  
Baoping Wu ◽  
Haoxuan Zheng ◽  
Jiman He ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Patients ◽  
Stk11 Gene ◽  
Peutz Jeghers Syndrome

Analysis of STK11 Gene Variant in Five Chinese Patients with Peutz-Jeghers Syndrome

2013 ◽  
Vol 58 (10) ◽  
pp. 2868-2872 ◽  
Author(s):  
BiXia Zheng ◽  
Jian Pan ◽  
Yaping Wang ◽  
Mei Li ◽  
Min Lian ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Gene Variant ◽  
Stk11 Gene ◽  
Peutz Jeghers Syndrome

scholarly journals Clinical characteristics and STK11 gene mutations in Chinese children with Peutz-Jeghers syndrome

2015 ◽  
Vol 15 (1) ◽  
Author(s):  
Zhiheng Huang ◽  
Shijian Miao ◽  
Lin Wang ◽  
Ping Zhang ◽  
Bingbing Wu ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Gene Mutations ◽  
Chinese Children ◽  
Stk11 Gene ◽  
Peutz Jeghers Syndrome

scholarly journals Targeted Long-Read RNA Sequencing Demonstrates Transcriptional Diversity Driven by Splice-Site Variation in MYBPC3

2019 ◽  
Vol 12 (5) ◽  
Author(s):  
Alexandra Dainis ◽  
Elizabeth Tseng ◽  
Tyson A. Clark ◽  
Ting Hon ◽  
Matthew Wheeler ◽  
...  
Keyword(s):  
Rna Sequencing ◽  
Splice Site ◽  
Site Variation ◽  
Long Read

scholarly journals Specific Alu elements involved in a significant percentage of copy number variations of the STK11 gene in patients with Peutz–Jeghers syndrome

2015 ◽  
Vol 14 (3) ◽  
pp. 455-461 ◽  
Author(s):  
Pawel Borun ◽  
Marina De Rosa ◽  
Boguslaw Nedoszytko ◽  
Jaroslaw Walkowiak ◽  
Andrzej Plawski
Keyword(s):  
Copy Number ◽  
Copy Number Variations ◽  
Stk11 Gene ◽  
Alu Elements ◽  
Significant Percentage ◽  
Peutz Jeghers Syndrome

Germline Mutation of the LKB1/STK11 Gene with Loss of the Normal Allele in an Aggressive Breast Cancer of Peutz-Jeghers Syndrome

Oncology ◽  
2004 ◽  
Vol 67 (5-6) ◽  
pp. 476-479 ◽  
Author(s):  
Chikashi Nakanishi ◽  
Tatsuro Yamaguchi ◽  
Takeru Iijima ◽  
Shigehira Saji ◽  
Masakazu Toi ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Germline Mutation ◽  
Normal Allele ◽  
Stk11 Gene ◽  
Peutz Jeghers Syndrome ◽  
Aggressive Breast Cancer

A De Novo Mutation of STK11 Gene in a Chinese Patient with Peutz–Jeghers Syndrome

2009 ◽  
Vol 55 (4) ◽  
pp. 1032-1036 ◽  
Author(s):  
Ying Gao ◽  
Fa-Ming Zhang ◽  
Shu Huang ◽  
Xiang Wang ◽  
Ping Zhang ◽  
...  
Keyword(s):  
De Novo ◽  
Chinese Patient ◽  
De Novo Mutation ◽  
Stk11 Gene ◽  
Peutz Jeghers Syndrome

scholarly journals STK11 gene mutations in patients with Peutz-Jeghers syndrome

2015 ◽  
Vol 23 (2) ◽  
pp. 332 ◽  
Author(s):  
Xu-Yan Mao ◽  
Ya-Fei Zhang ◽  
Gao-Ping Mao ◽  
Hai-Feng Wang ◽  
Shou-Bin Ning
Keyword(s):  
Gene Mutations ◽  
Stk11 Gene ◽  
Peutz Jeghers Syndrome
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