Results 121 to 130 of about 1,225,648 (255)

Relevance of ultrasound examination in general practice. A case report of a patient with autosomal dominant polycystic kidney disease [PDF]

, 2013
Autosomal dominant polycystic kidney disease is a genetic disorder which results in the development of multiple cysts in the kidneys and other parenchymal organs. The two genes in which mutations are known to cause autosomal dominant polycystic kidney
Izabela Cwojdzińska-Jankowska, Cwojdzińska-Jankowska, Izabela, Anna Plewa, Plewa, Anna   +3 more
core  

Autosomal dominant polycystic kidney disease in children

Saudi Journal of Kidney Diseases and Transplantation, 2016
Autosomal dominant polycystic kidney disease (ADPKD) presenting in adults is well documented, but the presentation in children is uncommon and is unclear why the disease presents early.
Kiran Chandra Patro, R Dilip, S Ramakrishnan   +2 more
doaj  

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Long-term safety profile of tolvaptan in autosomal dominant polycystic kidney disease patients: TEMPO Extension Japan Trial

, 2017
Satoru Muto,1 Tadashi Okada,2 Moriyoshi Yasuda,3 Hidetsugu Tsubouchi,4 Koji Nakajima,4 Shigeo Horie1,5 1Department of Advanced Informatics for Genetic Disease, Juntendo University Graduate School of Medicine, Tokyo, 2Department of Clinical Development ...
Nakajima K, Yasuda M, Horie S, Muto S, Tsubouchi H, Okada T   +5 more
core  

Zebrafish inversin mutants develop scoliosis in the absence of laterality defects

Developmental Dynamics, EarlyView.
Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick, Lorraine Eley, Deborah J. Henderson, Bill Chaudhry   +3 more
wiley   +1 more source

Autosomal Dominant Aniridia in A Nigerian Family: A Case Report.

, 2010
A 54year old man brought his son to our clinic because of large eyeballs and poor vision from birth. Family history revealed that father and another child had poor vision and used to squeeze their faces especially in bright light.
Ajibode, HA, Otulana, TO, TO Otulana, HA Ajibode   +3 more
core   +1 more source

The Genetics of Parkinson’s Disease

Genel Tıp Dergisi
Parkinson's disease (PD) is one of the most common neurodegenerative diseases worldwide. Approximately 15% of PD patients have a family history of the disease in one or more first-degree relatives, and 5-10% of PD cases exhibit a classical Mendelian ...
Levent Şimşek, Emine Berrin Yüksel, Zeliha Yücel   +2 more
doaj   +1 more source

Reflex seizures and epilepsy surgery: A network approach case‐based exploration

Epileptic Disorders, EarlyView.
Abstract Context Reflex seizures (RS) are defined by their consistent provocation by specific stimuli, encompassing a broad range from elementary sensory inputs to complex cognitive tasks. While RS are often encountered in clinical practice, their surgical management remains sparsely reported and poorly systematized.
Olivier Aron, Laure Salmon, Nicolas Nguyen, Dènahin Toffa, Sami Obaid, Alexis Robin, Dang Khoa Nguyen   +6 more
wiley   +1 more source

EDS IV (Acrogeria): New Autosomal Dominant and Recessive Types

, 1980
Evidence is presented that type IV of the Ehlers-Danlos syndrome (EDS IV) is genetically variable. A benign autosomal dominant form and two autosomal recessive variants are described with clinical and biochemical features that are distinct from ...
R S Wells, F M Pope, D Lawrence, P M Jones, A C Nicholls   +4 more
core   +1 more source

Cleidocranial dysplasia—A case report of incidentally found and lately diagnosed disorder

Clinical Case Reports, 2022
Aayush Adhikari, Suraj Shrestha, Prabin Bhattarai, Surendra Khanal, Rajan Lamichhane, Ramesh Balayar, Sobin Panta, Kundan Marasini   +7 more
doaj   +1 more source