First report on female monozygotic twins discordant for congenital nephrogenic diabetes insipidus
Published 2023 View Full Article
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Title
First report on female monozygotic twins discordant for congenital nephrogenic diabetes insipidus
Authors
Keywords
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Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2023-11-01
DOI
10.1002/ajmg.a.63407
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Note: Only part of the references are listed.- Escape from X-inactivation in twins exhibits intra- and inter-individual variability across tissues and is heritable
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- (2022) Li Zang et al. Biomed Research International
- X-chromosome inactivation patterns in females with Fabry disease examined by both ultra-deep RNA sequencing and methylation-dependent assay
- (2021) Rini Rossanti et al. Clinical and Experimental Nephrology
- Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus
- (2021) Q. Li et al. JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
- Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease
- (2018) Shogo Minamikawa et al. JOURNAL OF HUMAN GENETICS
- Menkes disease with discordant phenotype in female monozygotic twins
- (2015) Anna Lena Burgemeister et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study
- (2015) Alejandro García Castaño et al. EUROPEAN JOURNAL OF PEDIATRICS
- Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus
- (2015) Detlef Bockenhauer et al. Nature Reviews Nephrology
- Comparison of Genomic and Epigenomic Expression in Monozygotic Twins Discordant for Rett Syndrome
- (2013) Miyake Kunio et al. PLoS One
- Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2
- (2012) Sei Sasaki et al. Clinical and Experimental Nephrology
- A Longitudinal Twin Study of Skewed X Chromosome-Inactivation
- (2011) Chloe Chung Yi Wong et al. PLoS One
- Discordance for X-Linked Hypophosphataemic Rickets in Identical Twin Girls
- (2009) Catherine J. Owen et al. Hormone Research in Paediatrics
- Correlation between Clinical Phenotypes and X-inactivation Patterns in Six Female Carriers with Heterozygote Vasopressin Type 2 Receptor Gene Mutations
- (2008) Mari SATOH et al. ENDOCRINE JOURNAL
- AVPR2 variants and mutations in nephrogenic diabetes insipidus: Review and missense mutation significance
- (2008) Elias Spanakis et al. JOURNAL OF CELLULAR PHYSIOLOGY
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