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1,006 results on '"*AUTOSOMAL recessive polycystic kidney"'

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1. Refining the genetic diagnostic puzzle: A case report on a Chinese ARPKD patient with a reciprocal balanced translocation and c.2507 T > C (p.V836A) in PKHD1.

2. Immunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis.

3. Autosomal recessive polycystic kidney disease: late-onset renal enlargement and proteinuria with rare PKHD1 mutation—a case report.

4. A rare cause of echogenic kidneys with oligohydramnios in the fetus: report of two different cases.

5. 长岛型掌跖角化症的发病机制与治疗进展.

6. Protocol for the nationwide registry of patients with polycystic kidney disease: japanese national registry of PKD (JRP).

7. Distribution and classifications of PKHD1 gene variants in a Turkish population using the next generation sequencing method.

8. Epidemiology and outcomes of pediatric autosomal recessive polycystic kidney disease in the Middle East and North Africa.

9. Polycystic kidney disease and other genetic kidney disorders.

10. 常染色体隐性遗传性多囊肾1例.

11. Renal Pathology of Ciliopathies.

12. Genetics of Chronic Kidney Disease.

13. PKHD1L1 blocks the malignant behavior of lung adenocarcinoma cells and restricts tumor growth by regulating CBX7.

14. Autoptic aspects in a case of autosomal dominant polycystic kidney disease.

16. Pathogenic relationship between phenotypes of ARPKD and novel compound heterozygous mutations of PKHD1.

17. Nephronophthisis: a pathological and genetic perspective.

18. A rare case report of the Cowden syndrome.

19. The ARPKD Protein DZIP1L Regulates Ciliary Protein Entry by Modulating the Architecture and Function of Ciliary Transition Fibers.

20. A case report of autosomal recessive polycystic kidney disease with noncompaction of ventricular myocardium: coincidence or different manifestations of ciliopathy?

21. Raising serum uric acid with a uricase inhibitor worsens PKD in rat and mouse models.

22. Metastatic Ovarian Tumor from Incidental Renal Cell Carcinoma: A Case Report and Literature Review.

23. Diagnostic cases from July to December 2023.

24. Possible Hepatic Torsion, a Pediatric Patient With Polycystic Kidney Disease.

25. Clinical manifestation, epidemiology, genetic basis, potential molecular targets, and current treatment of polycystic liver disease.

26. Unilateral multicystic dysplastic kidney complicated with urinary tract infection by E. coli in a premature newborn.

27. Evaluation of final heights in patients with congenital adrenal hyperplasia.

28. Posttest Questions.

29. Cinnamic acid, a natural plant compound, exhibits neuroprotection in a mouse model of Sandhoff disease via PPARα.

30. Short-Term Outcome of Isolated Kidney Transplantation in Children with Autosomal Recessive Polycystic Kidney Disease: A Case Series and Literature Review.

31. Combined liver‐kidney transplantation in pediatric patients.

32. High Resolution Ultrasonography for Assessment of Renal Cysts in the PCK Rat Model of Autosomal Recessive Polycystic Kidney Disease.

33. The Pathophysiology of Inherited Renal Cystic Diseases.

34. The molecular structure and function of fibrocystin, the key gene product implicated in autosomal recessive polycystic kidney disease (ARPKD).

35. Comprehensive characterization of PKHD1 mutation in human colon cancer.

36. Thurston syndrome in two Indian female siblings.

37. Differential regulation of MYC expression by PKHD1/Pkhd1 in human and mouse kidneys: phenotypic implications for recessive polycystic kidney disease.

38. Scalp Tumor and Hydroureteronephrosis in Patients with Nephronophthisis and Homozygous NPHP1 Deletion.

39. Prenatal identification of carrier status for autosomal recessive disorders on chromosomal microarray.

40. Case 36-2023: A 19-Year-Old Man with Diabetes and Kidney Cysts.

41. Phenotype Spectrum in Tunisian Population with NPHP1 Deletion.

43. Early onset Caroli's disease with associated renal cystic disease presented with recurrent fever and epigastric pain: a case report.

44. Prenatal ultrasound in fetuses with polycystic kidney appearance — expanding the diagnostic algorithm.

45. Caroli's Disease Associated with Autosomal Dominant Polycystic Kidney Disease with Acute Pancreatitis: A Case Report.

47. A Case Report of Isovaleric Acidemia without Acidosis.

48. Pkhd1cyli/cyli mice have altered renal Pkhd1 mRNA processing and hormonally sensitive liver disease.

49. Metformin does not slow cyst growth in the PCK rat model of polycystic kidney disease.

50. Genetic Contributions to Biliary Atresia: A Developmental Cholangiopathy.

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