Results 81 to 90 of about 2,901 (167)
Parental magnetic resonance imaging for the evaluation of fetuses with brain anomalies
Developmental Medicine &Child Neurology, Volume 67, Issue 4, Page 463-474, April 2025.This original article is commented by Fogel on pages 422–423 of this issue. Abstract Aim To evaluate the role of parental magnetic resonance imaging (MRI) in assessing fetuses with suspected brain anomalies and its use in prenatal counselling. Method A retrospective, multicentre chart review was conducted on fetuses who underwent brain MRI because of ...
Stephanie Libzon +7 more
wiley +1 more source
Linchuang shenzangbing zazhiObjective To analyze genetic variation in two cases of autosomal recessive polycystic kidney disease （ARPKD） and provide theoretical rationales for its early diagnosis， treatment， genetic counseling and prenatal diagnosis.
Lan Zeng +5 more
doaj +1 more source
Clinical and Translational Medicine, Volume 15, Issue 3, March 2025.• Canonical Hippo pathway activated in nphp1‐deficient disease models and patients. • Kibra was a key upstream molecule in regulating the activation of canonical Hippo pathway in nphp1‐deficient disease models and patients and closely related to renal cyst formation and fibrosis in nphp1KO mice.
Yichen Yang +9 more
wiley +1 more source
Clinical Genetics, Volume 107, Issue 3, Page 323-327, March 2025.We compared the reported prevalence of rare recessive diseases obtained from epidemiological data with the population mutational load in their causative genes. If the knowledge of the genetic etiology of the disease is correct, the two estimates should be similar (A).
Stefano Medaglia +10 more
wiley +1 more source
, 2006 Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of renal- and liver related morbidity and mortality in neonates and infants, occurring 1 in 20000-40000 live births. Principal histological manifestations involve the fusiform dilatation of renal collecting ducts and hepatobiliary ductal plate malformations.
Marc Küpper
openalex +3 more sources
The role of next generation sequencing in the differential diagnosis of caroli’s syndrome
Balkan Journal of Medical Genetics, 2018 We report the case of a 41-year-old man on conservative treatment for more than 20 years for chronic renal insufficiency, chronic hepatitis and recurrent cholangitis.
Smolović B +4 more
doaj +1 more source
Coincidence the Autosomal Recessive Polycystic Kidney Disease With Placenta Membranacea (A Probably Genetic Relation with PKHD1 Gene) [PDF]
, 2016 Ehsan Hosseini +2 more
openalex +1 more source
Renal–hepatic–pancreatic dysplasia: An autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1‐p12 [PDF]
, 2007 Kasmintan A. Schrader +4 more
openalex +1 more source