Results 131 to 140 of about 340,349 (250)

Supplementary Figure S3 from Identification of a Novel Pathogenic Germline KDR Variant in Melanoma

, 2023
Inês Pires da Silva, Amel Salhi, Keith M. Giles, Matjaž Vogelsang, Sung Won Han, Naı̈ma Ismaı̈li, Kevin P. Lui, Eric M. Robinson, Melissa Wilson, Richard L. Shapiro, Anna C. Pavlick, Judy Zhong, Tomas Kirchhoff, Iman Osman   +13 more
openalex   +1 more source

Characterization of the Rbfox3‐IRES‐iCre knock‐in mouse: Revealing gene recombination activity in neural and non‐neural peripheral tissues

FASEB BioAdvances
In vivo cell type‐specific genetic recombination based on the Cre‐loxP system has contributed to the understanding of biological processes and diseases.
Shiho Nishino, Misuzu Hashimoto, Swapna Paramanya Biswas, Natsuki Mikami, Yoshikazu Hasegawa, Hayate Suzuki, Woojin Kang, Seiya Mizuno, Kazuya Murata   +8 more
doaj   +1 more source

Two novel germline mutations of MLH1 and investigation of their pathobiology in hereditary non-polyposis colorectal cancer families in China

, 2007
Chao‐Fu Wang, Xiao-Yan Zhou, Tai-Ming Zhang, Ye Xu, San-Jun Cai, Da-Ren Shi   +5 more
openalex   +2 more sources

Role for Germline Mutations and a Rare Coding Single Nucleotide Polymorphism Within the KCNJ5 Potassium Channel in a Large Cohort of Sporadic Cases of Primary Aldosteronism [PDF]

, 2014
Meena Murthy, Shengxin Xu, Gianmichele Massimo, Martin Wolley, Richard D. Gordon, Michael Stowasser, Kevin M. O’Shaughnessy   +6 more
openalex   +1 more source

Table S2 from Predicting Cancer Risk from Germline Whole-exome Sequencing Data Using a Novel Context-based Variant Aggregation Approach

, 2023
Zoe Guan, Colin B. Begg, Ronglai Shen
openalex   +1 more source

Data from Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier <i>SLC25A11</i> Gene Confer a Predisposition to Metastatic Paragangliomas

, 2023
Alexandre Buffet, Aurélie Morin, Luis-Jaime Castro-Vega, Florence Habarou, Charlotte Lussey‐Lepoutre, Éric Letouzé, Hervé Lefèbvre, Isabelle Guilhem, Magalie Haissaguerre, I. Raingeard, Mathilde Padilla-Girola, Thi Ngoc Anh Tran, Lucien Tchara, Jérôme Bertherat, Laurence Amar, Chris Ottolenghi, Nelly Burnichon, Anne‐Paule Gimenez‐Roqueplo, Judith Favier   +18 more
openalex   +1 more source

CRISPR-mediated germline mutagenesis for genetic sterilization of Anopheles gambiae males [PDF]

, 2023
Andrea L. Smidler, Douglas G. Paton, George M. Church, Kevin M. Esvelt, W. Robert Shaw, Flaminia Catteruccia   +5 more
openalex   +1 more source

Additional file 5: of Efficient identification of CRISPR/Cas9-induced insertions/deletions by direct germline screening in zebrafish

, 2016
Isabel Brocal, Richard White, Christopher M. Dooley, Samantha Carruthers, Richard Clark, Amanda Hall, Elisabeth M. Busch‐Nentwich, Derek L. Stemple, Ross Kettleborough   +8 more
openalex   +1 more source

A minimally invasive assay detects BRCA1 and BRCA2 protein truncations indicative of the presence of a germline mutation.

, 2023
T. J. Byrne
openalex   +2 more sources

TP53 Germline Variations Influence the Predisposition and Prognosis of B-Cell Acute Lymphoblastic Leukemia in Children

, 2018
Maoxiang Qian, Xueyuan Cao, Meenakshi Devidas, Wenjian Yang, Cheng Cheng, Yunfeng Dai, Andrew J. Carroll, Nyla A. Heerema, Hui Zhang, Takaya Moriyama, Julie M. Gastier‐Foster, Heng Xu, Elizabeth A. Raetz, Eric Larsen, Naomi Winick, W. Paul Bowman, Paul L. Martin, Elaine R. Mardis, Robert S. Fulton, Gerard P. Zambetti, Michael J. Borowitz, Brent L. Wood, Kim E. Nichols, William L. Carroll, Ching‐Hon Pui, Charles G. Mullighan, William E. Evans, Stephen P. Hunger, Mary V. Relling, Mignon L. Loh, Jun J. Yang   +30 more
openalex   +1 more source