Works matching DE "AUTOSOMAL recessive polycystic kidney"
Results: 450
Síndrome de Joubert-Boltshauser con asociación a malformación Dandy- Walker. Reporte de dos casos.
- Published in:
- Revista Mexicana de Neurociencia, 2014, v. 15, n. 2, p. 112
- By:
- Publication type:
- Article
First Report of a Novel Missense CLDN19 Mutations Causing Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in a Chinese Family.
- Published in:
- Calcified Tissue International, 2015, v. 96, n. 4, p. 265, doi. 10.1007/s00223-014-9951-7
- By:
- Publication type:
- Article
Pregnancy in autosomal recessive polycystic kidney disease.
- Published in:
- 2015
- By:
- Publication type:
- Report
Occupational Therapy in Cockayne Syndrome: A Case Report.
- Published in:
- Journal of Modern Rehabilitation, 2017, v. 11, n. 3, p. 189
- By:
- Publication type:
- Article
Electrolyte and metabolite composition of cystic fluid from a rat model of ARPKD.
- Published in:
- Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-025-07631-w
- By:
- Publication type:
- Article
Distribution and classifications of PKHD1 gene variants in a Turkish population using the next generation sequencing method.
- Published in:
- Turkish Journal of Medical Sciences, 2024, v. 54, n. 5, p. 1135, doi. 10.55730/1300-0144.5892
- By:
- Publication type:
- Article
Caroli综合征合并常染色体显性遗传性多囊肾1例报告.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
- Published in:
- Clinical & Translational Medicine, 2024, v. 14, n. 11, p. 1, doi. 10.1002/ctm2.70074
- By:
- Publication type:
- Article
Mechanistic Insights into the Role of C-Type Lectin Receptor/CARD9 Signaling in Human Antifungal Immunity.
- Published in:
- Frontiers in Cellular & Infection Microbiology, 2016, v. 6, p. 1, doi. 10.3389/fcimb.2016.00039
- By:
- Publication type:
- Article
A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
A Novel Mutation of the CYP11B2 in a Saudi Infant with Primary Hypoaldosteronism.
- Published in:
- Case Reports in Endocrinology, 2017, p. 1, doi. 10.1155/2017/8431475
- By:
- Publication type:
- Article
Immunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 12, p. 3471, doi. 10.1007/s00467-024-06443-0
- By:
- Publication type:
- Article
Epidemiology and outcomes of pediatric autosomal recessive polycystic kidney disease in the Middle East and North Africa.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 9, p. 2569, doi. 10.1007/s00467-024-06281-0
- By:
- Publication type:
- Article
Nephronophthisis: a pathological and genetic perspective.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 7, p. 1977, doi. 10.1007/s00467-023-06174-8
- By:
- Publication type:
- Article
Kidney concentrating capacity in children with autosomal recessive polycystic kidney disease is linked to glomerular filtration and hypertension.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 7, p. 2093, doi. 10.1007/s00467-022-05834-5
- By:
- Publication type:
- Article
A 5-year-old girl with kidney impairment and severe anemia: Answers.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 2, p. 393, doi. 10.1007/s00467-022-05608-z
- By:
- Publication type:
- Article
Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 11, p. 2657, doi. 10.1007/s00467-022-05441-4
- By:
- Publication type:
- Article
An unusual cause of elevated serum creatinine after kidney transplantation in an adolescent: Questions.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
A 7-year-old girl with renal medullary hyperechogenicity and hypertension: Answers.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 1, p. 135, doi. 10.1007/s00467-021-05314-2
- By:
- Publication type:
- Article
Systematic review on outcomes used in clinical research on autosomal recessive polycystic kidney disease—are patient-centered outcomes our blind spot?
- Published in:
- Pediatric Nephrology, 2021, v. 36, n. 12, p. 3841, doi. 10.1007/s00467-021-05192-8
- By:
- Publication type:
- Article
Early clinical management of autosomal recessive polycystic kidney disease.
- Published in:
- Pediatric Nephrology, 2021, v. 36, n. 11, p. 3561, doi. 10.1007/s00467-021-04970-8
- By:
- Publication type:
- Article
Correction to: "Predictors of progression in autosomal dominant and autosomal recessive polycystic kidney disease".
- Published in:
- Pediatric Nephrology, 2021, v. 36, n. 9, p. 2895, doi. 10.1007/s00467-021-04971-7
- By:
- Publication type:
- Article
Predictors of progression in autosomal dominant and autosomal recessive polycystic kidney disease.
- Published in:
- Pediatric Nephrology, 2021, v. 36, n. 9, p. 2639, doi. 10.1007/s00467-020-04869-w
- By:
- Publication type:
- Article
Long-term kidney and liver outcome in 50 children with autosomal recessive polycystic kidney disease.
- Published in:
- Pediatric Nephrology, 2021, v. 36, n. 5, p. 1165, doi. 10.1007/s00467-020-04808-9
- By:
- Publication type:
- Article
The "salt and pepper" pattern on renal ultrasound in a group of children with molecular-proven diagnosis of ciliopathy-related renal diseases.
- Published in:
- Pediatric Nephrology, 2020, v. 35, n. 6, p. 1033, doi. 10.1007/s00467-020-04480-z
- By:
- Publication type:
- Article
A child with bilateral multiple renal cysts presenting with ascites and pleural effusion: Answers.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 9, p. 1543, doi. 10.1007/s00467-019-4198-1
- By:
- Publication type:
- Article
Combined and sequential liver-kidney transplantation in children.
- Published in:
- Pediatric Nephrology, 2018, v. 33, n. 12, p. 2227, doi. 10.1007/s00467-017-3880-4
- By:
- Publication type:
- Article
Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
- Published in:
- Pediatric Nephrology, 2018, v. 33, n. 10, p. 1713, doi. 10.1007/s00467-018-3992-5
- By:
- Publication type:
- Article
Expanding the role of vasopressin antagonism in polycystic kidney diseases: From adults to children?
- Published in:
- Pediatric Nephrology, 2018, v. 33, n. 3, p. 395, doi. 10.1007/s00467-017-3672-x
- By:
- Publication type:
- Article
Successful long-term outcome of pediatric liver-kidney transplantation: a single-center study.
- Published in:
- Pediatric Nephrology, 2018, v. 33, n. 2, p. 351, doi. 10.1007/s00467-017-3782-5
- By:
- Publication type:
- Article
Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations.
- Published in:
- Pediatric Nephrology, 2017, v. 32, n. 7, p. 1269, doi. 10.1007/s00467-017-3648-x
- By:
- Publication type:
- Article
Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities.
- Published in:
- Pediatric Nephrology, 2017, v. 32, n. 5, p. 791, doi. 10.1007/s00467-016-3556-5
- By:
- Publication type:
- Article
Hepatorenal fibrocystic diseases in children.
- Published in:
- Pediatric Nephrology, 2016, v. 31, n. 1, p. 113, doi. 10.1007/s00467-015-3185-4
- By:
- Publication type:
- Article
Pleuro-peritoneal or pericardio-peritoneal leak in children on chronic peritoneal dialysis-A survey from the European Paediatric Dialysis Working Group.
- Published in:
- Pediatric Nephrology, 2015, v. 30, n. 11, p. 2021, doi. 10.1007/s00467-015-3137-z
- By:
- Publication type:
- Article
Whether or not to accept a deceased donor kidney offer for a pediatric patient.
- Published in:
- Pediatric Nephrology, 2015, v. 30, n. 9, p. 1529, doi. 10.1007/s00467-015-3139-x
- By:
- Publication type:
- Article
Transplantation in autosomal recessive polycystic kidney disease: liver and/or kidney?
- Published in:
- Pediatric Nephrology, 2015, v. 30, n. 8, p. 1233, doi. 10.1007/s00467-014-2887-3
- By:
- Publication type:
- Article
Rationale for early treatment of polycystic kidney disease.
- Published in:
- Pediatric Nephrology, 2015, v. 30, n. 7, p. 1053, doi. 10.1007/s00467-014-2882-8
- By:
- Publication type:
- Article
Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD.
- Published in:
- Pediatric Nephrology, 2015, v. 30, n. 2, p. 273, doi. 10.1007/s00467-014-2917-1
- By:
- Publication type:
- Article
ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies.
- Published in:
- Pediatric Nephrology, 2015, v. 30, n. 1, p. 15, doi. 10.1007/s00467-013-2706-2
- By:
- Publication type:
- Article
Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes.
- Published in:
- Pediatric Nephrology, 2014, v. 29, n. 10, p. 1915, doi. 10.1007/s00467-013-2634-1
- By:
- Publication type:
- Article
Neurocognition in children with autosomal recessive polycystic kidney disease in the CKiD cohort study.
- Published in:
- Pediatric Nephrology, 2014, v. 29, n. 10, p. 1957, doi. 10.1007/s00467-014-2816-5
- By:
- Publication type:
- Article
Combined liver and kidney transplantation in children.
- Published in:
- Pediatric Nephrology, 2014, v. 29, n. 5, p. 805, doi. 10.1007/s00467-013-2487-7
- By:
- Publication type:
- Article
Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.
- Published in:
- Pediatric Nephrology, 2014, v. 29, n. 2, p. 223, doi. 10.1007/s00467-013-2657-7
- By:
- Publication type:
- Article
Looking at the (w)hole: magnet resonance imaging in polycystic kidney disease.
- Published in:
- Pediatric Nephrology, 2013, v. 28, n. 9, p. 1771, doi. 10.1007/s00467-012-2370-y
- By:
- Publication type:
- Article
Cystic kidney diseases: many ways to form a cyst.
- Published in:
- Pediatric Nephrology, 2013, v. 28, n. 1, p. 33, doi. 10.1007/s00467-012-2221-x
- By:
- Publication type:
- Article
Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease.
- Published in:
- 2012
- By:
- Publication type:
- Report
The Pathophysiology of Inherited Renal Cystic Diseases.
- Published in:
- Genes, 2024, v. 15, n. 1, p. 91, doi. 10.3390/genes15010091
- By:
- Publication type:
- Article
Whole Exome Sequencing in a Series of Patients with a Clinical Diagnosis of Tuberous Sclerosis Not Confirmed by Targeted TSC1/TSC2 Sequencing.
- Published in:
- Genes, 2021, v. 12, n. 9, p. 1401, doi. 10.3390/genes12091401
- By:
- Publication type:
- Article
Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.
- Published in:
- Genes, 2018, v. 9, n. 4, p. 216, doi. 10.3390/genes9040216
- By:
- Publication type:
- Article
Prenatal Ultrasound Diagnosis of Fetal Urogenital Anomalies.
- Published in:
- Donald School Journal of Ultrasound in Obstetrics & Gynecology, 2016, v. 10, n. 3, p. 301, doi. 10.5005/jp-journals-10009-1476
- By:
- Publication type:
- Article