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578 results on '"*AUTOSOMAL recessive polycystic kidney"'

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151. Original tumour suppressor gene polycystic kidney and hepatic disease 1-like 1 is associated with thyroid cancer cell progression.

152. Prenatal ultrasonography of autosomal dominant polycystic kidney disease mimicking recessive type: case series.

153. Novel CLCN7 mutations cause autosomal dominant osteopetrosis type II and intermediate autosomal recessive osteopetrosis.

154. Novel variants in the KERA gene cause autosomal recessive cornea plana in a Chinese family: A case report.

155. Diffusion tensor imaging of the kidney in healthy controls and in children and young adults with autosomal recessive polycystic kidney disease.

157. Heterozygous Pkhd1C642* mice develop cystic liver disease and proximal tubule ectasia that mimics radiographic signs of medullary sponge kidney.

158. Truncating PKHD1 and PKD2 mutations alter energy metabolism.

159. Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test.

160. Whole‐exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype.

161. Hypomagnesaemia is absent in children with autosomal dominant polycystic kidney disease.

162. Cinacalcet/vitamin-D: Lack of efficacy.

163. Patent Issued for Target-enriched multiplexed parallel analysis for assessment of risk for genetic conditions (USPTO 11879157).

164. Researchers Submit Patent Application, "Oral Octreotide For The Treatment Of Disease", for Approval (USPTO 20240016899).

165. Researchers from Mayo Clinic Provide Details of New Studies and Findings in the Area of Liver Diseases and Conditions (Genetic Spectrum of Polycystic Kidney and Liver Diseases and the Resulting Phenotypes).

166. New Liver Diseases and Conditions Data Has Been Reported by a Researcher at Department of Pediatrics (Short-Term Outcome of Isolated Kidney Transplantation in Children with Autosomal Recessive Polycystic Kidney Disease: A Case Series and...).

167. Polycystic Liver Disease: Advances in Understanding and Treatment

168. Caroli's syndrome evaluated by ultrasound and magnetic resonance imaging during pregnancy.

169. T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature.

170. Combined and sequential liver-kidney transplantation in children.

171. Clinical Manifestation, Management and Prognosis of Acute Myocardial Infarction in Autosomal Dominant Polycystic Kidney Disease.

172. A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia.

173. Mutation analysis of the ABCC2 gene in Chinese patients with Dubin-Johnson syndrome.

174. Outcome of autosomal dominant polycystic kidney disease patients on peritoneal dialysis: a national retrospective study based on two French registries (the French Language Peritoneal Dialysis Registry and the French Renal Epidemiology and Information Network)

175. Fundus phenotype in retinitis pigmentosa associated with EYS mutations.

176. Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.

177. Clinical manifestations, imaging findings and laboratory abnormalities in 51 patients with autosomal dominant polycystic kidney disease: Experience at Tirupati, South India.

178. Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically.

179. Diagnostic of Early Onset Polycystic Kidney Disease in Neonates.

180. A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys.

181. Primary Hyperoxaluria Type 1 with Thrombophilia in Pregnancy: A Case Report.

182. Staphylococcus aureus in the airways of cystic fibrosis patients - A retrospective long-term study.

183. Management of Abdominoperineal Excision of the Rectum in a Patient with Glanzmann Thrombasthenia.

184. Forensic investigation of 23 autosomal STRs and application in Han and Mongolia ethnic groups.

185. Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease.

186. Aniridia due to a novel microdeletion affecting PAX6 regulatory enhancers: case report and review of the literature.

187. Autosomal recessive polycystic kidney disease (ARPKD) in a Nigerian newborn: a case report.

188. Expanding the clinical and genetic spectra of <italic>NKX6‐2</italic>‐related disorder.

189. Identification of a novel mutation in the ABCA4 gene in a Chinese family with retinitis pigmentosa using exome sequencing.

190. Evaluation of Two Liver Treatment Strategies in a Mouse Model of Niemann-Pick-Disease Type C1.

191. Expanding the role of vasopressin antagonism in polycystic kidney diseases: From adults to children?

192. The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families.

193. Genetic screening of SCNN1B and SCNN1G genes in early-onset hypertensive patients helps to identify Liddle syndrome.

194. Clinical and genetic characterisation of a series of patients with triple A syndrome.

195. World's smallest combined en bloc liver‐pancreas transplantation.

196. Successful long-term outcome of pediatric liver-kidney transplantation: a single-center study.

197. Whole exome sequencing reveals a stopgain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection.

198. Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings.

199. A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia.

200. A variant allele of the Mediterranean‐fever gene increases the severity of gout.

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