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Sự phong phú của các biến thể lâm sàng trong các exon được bao gồm trong nhiều bản sao Dịch bởi AI
Springer Science and Business Media LLC - Tập 12 - Trang 1-5 - 2018
Sankar Subramanian
Các nghiên cứu trước đây chỉ ra rằng cường độ áp lực chọn lọc trong các exon cấu trúc là cao hơn so với các exon được cắt ghép thay thế. Cường độ chọn lọc cũng cho thấy rằng nó phụ thuộc vào mức độ bao gồm của các exon: số lượng các bản sao bao gồm một exon. Ở đây, chúng tôi đã kiểm tra cách sự khác biệt về áp lực chọn lọc ảnh hưởng đến các mẫu biến thể lâm sàng trong các exon của con người. Phân ...... hiện toàn bộ
#biến thể lâm sàng #exon #áp lực chọn lọc #cắt ghép thay thế #đột biến gây bệnh
Preimplantation genetic testing for aneuploidy: challenges in clinical practice
Springer Science and Business Media LLC - Tập 16 - Trang 1-5 - 2022
Hui Yang, Andrew Thomas DeWan, Mayur M. Desai, Sten H. Vermund
Preimplantation genetic testing for aneuploidy (PGT-A) has been used widely during in vitro fertilization procedures in assisted reproductive centers throughout the world. Despite its wide use, concerns arise from the use of PGT-A technology in clinical decision-making. We address knowledge gaps in PGT-A, summarizing major challenges and current professional guidelines. First, PGT-A is a screening...... hiện toàn bộ
IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients
Springer Science and Business Media LLC - Tập 13 - Trang 1-11 - 2019
Lidiia Zhytnik, Katre Maasalu, Binh Ho Duy, Andrey Pashenko, Sergey Khmyzov, Ene Reimann, Ele Prans, Sulev Kõks, Aare Märtson
Osteogenesis imperfecta (OI) covers a spectrum of bone fragility disorders. OI is classified into five types; however, the genetic causes of OI might hide in pathogenic variants of 20 different genes. Often clinical OI types mimic each other. This sometimes makes it impossible to identify the OI type clinically, which can be a risk for patients. Up to 90% of OI types I–IV are caused by pathogenic ...... hiện toàn bộ
Erratum
Springer Science and Business Media LLC - - 2005
Letter to the Editor
Springer Science and Business Media LLC - Tập 2 - Trang 1-2 - 2006
David R Nelson
Cellular and clinical impact of protein phosphatase enzyme epigenetic silencing in multiple cancer tissues
Springer Science and Business Media LLC - - 2024
Edward Wiltshire, Manuel Castro de Moura, David Piñeyro, Ricky S. Joshi
Protein Phosphatase Enzymes (PPE) and protein kinases simultaneously control phosphorylation mechanisms that tightly regulate intracellular signalling pathways and stimulate cellular responses. In human malignancies, PPE and protein kinases are frequently mutated resulting in uncontrolled kinase activity and PPE suppression, leading to cell proliferation, migration and resistance to anti-cancer th...... hiện toàn bộ
Response to Stenson et al. in Human GenomicsVol. 4, No. 2, pp. 69-72: 'The Human Gene Mutation Database: Providing a comprehensive central mutation database for molecular diagnostics and personalised genomics'
Springer Science and Business Media LLC - Tập 4 - Trang 1-2 - 2010
Richard GH Cotton
Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population
Springer Science and Business Media LLC - Tập 2 Số 4 - 2006
Tom Walsh, Amal Rayan, Judeh Abu Sa'ed, Hashem Shahin, Jeanne Shepshelovich, Ming K. Lee, Koret Hirschberg, Mustafa Tekin, Wa'el Salhab, Karen B. Avraham, Mary Claire King, Moien Kanaan
Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes
Springer Science and Business Media LLC - Tập 17 - Trang 1-15 - 2023
Sara Silvaieh, Theresa König, Raphael Wurm, Tandis Parvizi, Evelyn Berger-Sieczkowski, Stella Goeschl, Christoph Hotzy, Matias Wagner, Riccardo Berutti, Esther Sammler, Elisabeth Stögmann, Alexander Zimprich
Early-onset dementia (EOD), with symptom onset before age 65, has a strong genetic burden. Due to genetic and clinical overlaps between different types of dementia, whole-exome sequencing (WES) has emerged as an appropriate screening method for diagnostic testing and novel gene-finding approaches. We performed WES and C9orf72 repeat testing in 60 well-defined Austrian EOD patients. Seven patients ...... hiện toàn bộ
Genetics and functions of the retinoic acid pathway, with special emphasis on the eye
Springer Science and Business Media LLC - Tập 13 - Trang 1-15 - 2019
Brian Thompson, Nicholas Katsanis, Nicholas Apostolopoulos, David C. Thompson, Daniel W. Nebert, Vasilis Vasiliou
Retinoic acid (RA) is a potent morphogen required for embryonic development. RA is formed in a multistep process from vitamin A (retinol); RA acts in a paracrine fashion to shape the developing eye and is essential for normal optic vesicle and anterior segment formation. Perturbation in RA-signaling can result in severe ocular developmental diseases—including microphthalmia, anophthalmia, and colo...... hiện toàn bộ
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