Results 61 to 70 of about 656,619 (173)

Clinical and Genetic Analysis of Pediatric Neurodevelopmental Disorders With Complex Chromosomal Rearrangements in Two Cases

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
This study investigates the impact of complex chromosomal rearrangement (CCR) breakpoints on pediatric developmental delay and epilepsy. By integrating karyotype analysis with WES and/or WGS, we identified an inversion on chromosome 3 likely affecting ROBO1/DNAJC13/ACAD11 in one patient and a complex chromosome 1 rearrangement with a novel KCNA2 ...
Jiaci Li, Wenxuan Fan, Nan Liu, Shuyue Zhang, Ping Wang, Chunyu Gu, Jianbo Shu   +6 more
wiley   +1 more source

Autosomal Dominant Polycystic Kidney Disease Induced by Ciliary Defects

, 2015
Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic renal disease, which is caused by pathogenic mutations of either PKD1 (85%) or PKD2 (15%) genes, encoding for polycystin-1 (PC1) or polycystin-2 (PC2), respectively.

core   +1 more source

Obesity in Classic Congenital Adrenal Hyperplasia: Mechanisms, Complications and Management

Clinical Endocrinology, Volume 105, Issue 3, Page 271-284, September 2026.
ABSTRACT Classic congenital adrenal hyperplasia (CCAH) is an autosomal recessive genetic disorder primarily caused by 21‐hydroxylase deficiency. Although the survival rate of patients has significantly improved with glucocorticoid replacement therapy, long‐term use of supraphysiological doses and multiple factors inherent to the disease itself have led
Jialin Mu, Yue Li, Meng Sun, Yulin Li, Panpan Li, Hui Zou   +5 more
wiley   +1 more source

Rare Combination of Phenotypes of Karyomegalic Interstitial Nephritis and Autosomal Recessive Polycystic Kidney Disease in an Omani Child

Oman Medical Journal
Autosomal recessive polycystic kidney disease is one of the most prevalent inherited cystic kidney diseases in infants and children, common in highly consanguineous societies such as Oman. Karyomegalic interstitial nephritis is a rare cause of hereditary
Intisar Al Alawi, Maryam Al Shehhi, Naifain Al Kalbani, Aliya Al Hosni, Ashwaq Al Mimani, Issa Al Salmi, John A. Sayer   +6 more
doaj   +1 more source

A Challenging Case of Hepatoblastoma Concomitant with Autosomal Recessive Polycystic Kidney Disease and Caroli Syndrome—Review of the Literature

Frontiers in Pediatrics, 2017
We report a rare case of an 18-month-old female with autosomal recessive polycystic kidney disease, Caroli syndrome, and pure fetal type hepatoblastoma. The liver tumor was surgically resected with no chemotherapy given.
Nevil Kadakia, Steven J. Lobritto, Nadia Ovchinsky, Helen E. Remotti, Darrell J. Yamashiro, Darrell J. Yamashiro, Darrell J. Yamashiro, Jean C. Emond, Mercedes Martinez   +8 more
doaj   +1 more source

Perfil Epidemiológico e clínico de pacientes com doença renal policística do adulto em hospitais de Florianópolis. [PDF]

, 2006
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Martins, Gustavo Eduardo Vieira
core  

Tolvaptan treatment for severe neonatal autosomal-dominant polycystic kidney disease [PDF]

, 2017
Severe neonatal autosomal-dominant polycystic kidney disease (ADPKD) is rare and easily confused with recessive PKD.
Gilbert, Rodney D., Nagra, Arvind, Hazel Evans, Mark Griffiths, Mushfequr R. Haq, Kazeem Olalekan, Rodney D. Gilbert, Olalekan, Kazeem, Babatunde, Haq, Mushfequr R., Griffiths, Mark, Evans, Hazel, Arvind Nagra   +11 more
core   +1 more source

Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease [PDF]

, 1990
Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease. Congenital hepatic fibrosis was found in four families with autosomal-dominant polycystic kidney disease.
COBBEN, JM, ZERRES, K, Cobben, Jan M., SCHOOTS, C, Schoots, Coen, ten Kate, Leo P., BREUNING, MH, TENKATE, LP, Zerres, Klaus, Breuning, Martijn H.   +9 more
core   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Ruptured intracranial aneurysm and recessive polycystic kidney Disease: A Rare Association

Saudi Journal of Kidney Diseases and Transplantation, 2019
Autosomal recessive polycystic kidney disease (ARPKD) is the most common childhood-onset ciliopathy. Intracranial aneurysms (ICA) are a serious complication of autosomal dominant polycystic kidney disease (ADPKD).
Imed Helal, Insaf Handous, Meriam Khadhar, Hamida Bezzine, Fethi Ben Hamida, Taib Ben Abdallah   +5 more
doaj   +1 more source