Results 191 to 200 of about 131,275 (354)

Genotype–Phenotype Correlations, Treatment, and Prognosis of Children With Early‐Onset (Neonatal) Marfan Syndrome

open access: yesClinical Genetics, EarlyView.
Early‐onset Marfan syndrome (eoMFS) is a rare disorder with atrioventricular valve insufficiency being the most severe symptom. We propose to regard eoMFS as a spectrum, ranging from a severe disorder life‐threatening already before or immediately after birth, to a disorder with a better survival rate, creating a window for atrioventricular valve ...
Eva C. van der Leest   +12 more
wiley   +1 more source

Cannabis and the lung [PDF]

open access: yes, 2010
Macleod, J, Reid, P T, Robertson, Roy
core   +1 more source

Limited Diagnostic Utility of PRDM10 Analysis in Birt–Hogg–Dubé Syndrome: Experience in 313 Consecutive Patients

open access: yesClinical Genetics, EarlyView.
This short letter shows the limited diagnostic utility of PRDM10 screening in patients with a clinical suspicion of BHD syndrome. In a cohort of 313 patients with a suspicion of BHD syndrome and no FLCN mutations, none carry a pathogenic PRDM10 variation.
Agathe Hercent   +2 more
wiley   +1 more source

A Case of Hybrid Cellular Neurothekeoma and Perineurioma With a Folliculin Gene Mutation

open access: yesJournal of Cutaneous Pathology, Volume 52, Issue 5, Page 374-378, May 2025.
ABSTRACT Hybrid peripheral nerve sheath tumors (PNSTs) are benign tumors that show features of more than one type of PNST. Benign cutaneous plexiform hybrid tumor of perineurioma and cellular neurothekeoma (BCPHTPCN) is a rare, recently described entity that shows various combinations of histomorphologic and immunophenotypic features of the PNSTs ...
Taylor J. Prechtel   +3 more
wiley   +1 more source

Common Radiological Features on Chest X‐Rays of Infants With Bronchiolitis: Do They Support Management?

open access: yes
Acta Paediatrica, Volume 114, Issue 6, Page 1478-1480, June 2025.
C. Towriss   +4 more
wiley   +1 more source

Peroral endoscopic myotomy in spastic esophageal disorders: Clinical outcomes and optimal approaches

open access: yesDigestive Endoscopy, EarlyView.
Objectives The efficacy and safety of peroral endoscopic myotomy (POEM) for spastic esophageal disorders (SED), including type III achalasia, distal esophageal spasm (DES), and jackhammer esophagus (JE), remain uncertain due to its rarity. This study aimed to evaluate the clinical outcomes and optimal strategies for managing SED.
Tetsuya Tatsuta   +15 more
wiley   +1 more source

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