Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity

Disease Severity ◽

Next Generation ◽

Steroid Resistant ◽

Steroid Resistant Nephrotic Syndrome ◽

Next generation sequencing (NGS) in the UK steroid resistant nephrotic syndrome (SRNS) study reveals complex genetic heterogeneity

Archives of Disease in Childhood ◽

10.1136/archdischild-2012-301885.379 ◽

2012 ◽

Vol 97 (Suppl 1) ◽

pp. A161.2-A162 ◽

Cited By ~ 1

Author(s):

HJ McCarthy ◽

A Bierzynska ◽

M Wherlock ◽

GI Welsh ◽

MA Saleem

Keyword(s):

Nephrotic Syndrome ◽

Genetic Heterogeneity ◽

Next Generation ◽

Steroid Resistant ◽

Steroid Resistant Nephrotic Syndrome ◽

The Uk ◽

Next Generation Sequencing Ngs ◽

Targeted Next-Generation Sequencing in Brazilian Children With Nephrotic Syndrome Submitted to Renal Transplant

Transplantation Journal ◽

10.1097/tp.0000000000001846 ◽

2017 ◽

Vol 101 (12) ◽

pp. 2905-2912 ◽

Cited By ~ 10

Author(s):

Luciana S. Feltran ◽

Patricia Varela ◽

Elton Dias Silva ◽

Camila Lopes Veronez ◽

Maria Carmo Franco ◽

...

Keyword(s):

Nephrotic Syndrome ◽

Renal Transplant ◽

Next Generation ◽

Generation Sequencing ◽

Brazilian Children

TARGETED NEXT GENERATION SEQUENCING PID PANEL IDENTIFIES A NOVEL NONSENSE CARD11 MUTATION TREATED SUCCESSFULLY WITH PHENOIDENTICAL HEMATOPOIETIC STEM CELL TRANSPLANT WITHOUT CONDITIONING

10.26226/morressier.57bc1757d462b80290b4cfb3 ◽

2016 ◽

Author(s):

Bashayer Alrasheed

Keyword(s):

Stem Cell ◽

Hematopoietic Stem Cell ◽

Hematopoietic Stem Cell Transplant ◽

Stem Cell Transplant ◽

Cell Transplant ◽

Next Generation ◽

Hematopoietic Stem ◽

PATHOGENIC GENETIC VARIANTS IDENTIFIED BY TARGETED NEXT-GENERATION SEQUENCING IN SOME UNDEFINED PRIMARY IMMUNODEFICIENCY CASES (IZMIR EXPERIENCE)

10.26226/morressier.594a7d45d462b8028d89348d ◽

2017 ◽

Author(s):

Kutukculer Necil

Keyword(s):

Primary Immunodeficiency ◽

Genetic Variants ◽

Next Generation ◽

Faculty Opinions recommendation of Targeted next-generation sequencing of head and neck squamous cell carcinoma identifies novel genetic alterations in HPV+ and HPV- tumors.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718014371.793495250 ◽

2014 ◽

Author(s):

Jean-Pascal Machiels

Keyword(s):

Squamous Cell Carcinoma ◽

Cell Carcinoma ◽

Head And Neck ◽

Squamous Cell ◽

Genetic Alterations ◽

Neck Squamous Cell Carcinoma ◽

Next Generation ◽

Faculty Opinions recommendation of Targeted next-generation sequencing panel (ThyroSeq) for detection of mutations in thyroid cancer.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718087053.793516496 ◽

2016 ◽

Author(s):

Bernard Corvilain

Keyword(s):

Thyroid Cancer ◽

Next Generation ◽

Detection Of Mutations ◽

Next-Generation Sequencing for Congenital Nephrotic Syndrome: A Multi-Center Cross-Sectional Study from India

Indian Pediatrics ◽

10.1007/s13312-021-2215-5 ◽

2021 ◽

Vol 58 (5) ◽

pp. 445-451

Author(s):

Aditi Joshi ◽

◽

Aditi Sinha ◽

Aakanksha Sharma ◽

Uzma Shamim ◽

...

Keyword(s):

Nephrotic Syndrome ◽

Congenital Nephrotic Syndrome ◽

Cross Sectional Study ◽

Next Generation ◽

Sectional Study ◽

Cross Sectional ◽

The mutation screening in candidate genes related to thyroid dysgenesis by targeted next‐generation sequencing panel in the Chinese congenital hypothyroidism

Clinical Endocrinology ◽

10.1111/cen.14577 ◽

2021 ◽

Author(s):

Rui‐Jia Zhang ◽

Guang‐lin Yang ◽

Feng Cheng ◽

Feng Sun ◽

Ya Fang ◽

...

Keyword(s):

Candidate Genes ◽

Congenital Hypothyroidism ◽

Mutation Screening ◽

Next Generation ◽

Thyroid Dysgenesis ◽

156 Identification of novel variants associated with feline hypertrophic cardiomyopathy (HCM) using targeted next-generation sequencing

Animal - science proceedings ◽

10.1016/j.anscip.2021.03.157 ◽

2021 ◽

Vol 12 (1) ◽

pp. 126

Author(s):

Jade Raffle ◽

Jose Novo Matos ◽

Perry Elliott ◽

David Connolly ◽

Virginia Luis Fuentes ◽

...

Keyword(s):

Hypertrophic Cardiomyopathy ◽

Next Generation ◽

Novel Variants ◽

Development and application of the Faba_bean_130K targeted next-generation sequencing SNP genotyping platform based on transcriptome sequencing

Theoretical and Applied Genetics ◽

10.1007/s00122-021-03885-0 ◽

2021 ◽

Author(s):

Chenyu Wang ◽

Rong Liu ◽

Yujiao Liu ◽

Wanwei Hou ◽

Xuejun Wang ◽

...

Keyword(s):

Transcriptome Sequencing ◽

Snp Genotyping ◽

Next Generation ◽

Genotyping Platform ◽