☆ 4.4 Article

Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease

PEDIATRIC NEPHROLOGY (2022)

The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation

Eva Schrezenmeier et al.

Summary: This study demonstrates the diagnostic value of comprehensive genetic testing among patients with undetermined CKD. A considerable proportion of patients with CKD were found to have a known genetic cause, highlighting the importance of genetic testing in this population.

GENETICS IN MEDICINE (2021)

添加到收藏夹

Review Pediatrics

Genetics of Autosomal Recessive Polycystic Kidney Disease and its Differential Diagnoses

Carsten Bergmann

FRONTIERS IN PEDIATRICS (2018)

添加到收藏夹

Article Genetics & Heredity

Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease

Hao Lu et al.

NATURE GENETICS (2017)

添加到收藏夹

Article Physiology

Expression of transcellular and paracellular calcium and magnesium transport proteins in renal and intestinal epithelia during lactation

Megan R. Beggs et al.

AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2017)

添加到收藏夹

Article Biochemical Research Methods

Fiji: an open-source platform for biological-image analysis

Johannes Schindelin et al.

NATURE METHODS (2012)

添加到收藏夹

Article Genetics & Heredity

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Helen V. Firth et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2009)

添加到收藏夹

Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease

相关参考文献

The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation

Genetics of Autosomal Recessive Polycystic Kidney Disease and its Differential Diagnoses

Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease

Expression of transcellular and paracellular calcium and magnesium transport proteins in renal and intestinal epithelia during lactation

Fiji: an open-source platform for biological-image analysis

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

导出引文

分享论文