Results 201 to 210 of about 308,350 (333)

A Case of Gastric Cancer with Autosomal Dominant Polycystic Kidney Disease

open access: diamond, 2010
Hidetaka YAMANAKA   +7 more
openalex   +2 more sources

Effect of Simultaneous Nephrectomy on Perioperative Blood Pressure and Graft Outcome in Renal Transplant Recipients with Autosomal Dominant Polycystic Kidney Disease [PDF]

open access: diamond, 2016
Hyung Ah Jo   +12 more
openalex   +1 more source

Juvenile polyposis in a SMAD4‐mutated child: A call for early surveillance

open access: yesJPGN Reports, EarlyView.
Abstract We report the case of a 10‐year‐old boy with hereditary hemorrhagic telangiectasia (HHT) and a family history of SMAD4‐related juvenile polyposis syndrome (JPS), presenting with hypoferritinaemia unresponsive to oral supplementation. Endoscopic evaluation revealed multiple gastrointestinal polyps, including duodenal, gastric, and colonic ...
Claudia Lorusso   +10 more
wiley   +1 more source

No relationship between total kindey volume class or genotype and 24h blood pressure control in adult ADPKD patients [PDF]

open access: yes, 2018
Allamani, Mandelina   +4 more
core   +2 more sources

A-34A Three-Factor Structure of Cognitive Functioning Among Carriers and Non-Carriers of Autosomal-Dominant Alzheimer's Disease [PDF]

open access: bronze, 2016
Sehily Y. Jaimes   +11 more
openalex   +1 more source

Alagille syndrome- A rare autosomal dominant disorder [PDF]

open access: yesAl Ameen Journal of Medical Sciences, 2018
Rizwan-U-Zama   +4 more
doaj  

Elexacaftor–Tezacaftor–Ivacaftor Reduces Revision Sinus Surgery in People With Cystic Fibrosis

open access: yesThe Laryngoscope, EarlyView.
Elexacaftor–tezacaftor–ivacaftor (ETI) was associated with a significant decrease in the frequency and rate of endoscopic sinus surgeries in patients with cystic fibrosis. These findings suggest an improvement in CF‐related chronic rhinosinusitis outcomes following ETI and may influence future CF treatment decisions.
Amy Lin   +6 more
wiley   +1 more source

Retinoblastoma Plus Lipomatosis: An Autosomal Dominant Syndrome

open access: yesArchives of Plastic Surgery, 2014
Stefania Tenna   +3 more
doaj   +1 more source

Using a Brief Body Sway Assessment Device to Track Balance Differences across the Huntington's Disease Integrated Staging System Spectrum

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by a mutation in the huntingtin gene on chromosome 4, leading to progressive cognitive decline, motor impairment, and functional disability. Although balance impairment is recognized in HD, its onset and evolution with disease stage remain poorly ...
Japleen Kaur   +6 more
wiley   +1 more source

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