Results 121 to 130 of about 24,828 (211)
A key component of the collagen internalization and lysosomal degradation cellular machinery, uPARAP may contribute to cancer progression. Here, the authors explored the expression of uPARAP in gastrointestinal stromal tumors using well‐annotated clinical patient samples and specimens from cell line‐ and patient‐derived xenografts.
Chao‐Chi Wang +10 more
wiley +1 more source
End-stage renal disease due to retroperitoneal fibrosis in neurofibromatosis type I. [PDF]
Ramanzini LG +4 more
europepmc +1 more source
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
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 +4 more
wiley +1 more source
Abstract Background Spinal cerebrospinal fluid (CSF) leaks, a rare but debilitating condition, have been described following spinal manipulative therapy (SMT) in case reports. However, the nature of the potential association between SMT and CSF leak is uncertain, and symptoms such as neck pain or headache may reflect preexisting leaks rather than ...
Robert J. Trager +4 more
wiley +1 more source
Audiological Characteristics in Vestibular Schwannoma Patients
ABSTRACT Objective Vestibular schwannoma (VS) is a benign tumor that originates from the Schwann cells of the vestibular nerve sheath in the internal auditory canal. This retrospective study collected data from patients with VS who underwent surgical treatment to identify their demographic characteristics and audiometric features.
Shan Zeng +4 more
wiley +1 more source
A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic +3 more
wiley +1 more source
Selumetinib as a Target Therapy in Progressive Paediatric Low‐Grade Gliomas—Case Series (pLGG)
ABSTRACT Background Optic pathway gliomas (OPGs) occur in 15%–20% of children with neurofibromatosis type 1 (NF1). While smaller gliomas may be only monitored, the current standard of care for symptomatic ones relies on chemotherapy, most commonly carboplatin and vincristine.
Laura Trapani +12 more
wiley +1 more source
Neurofibromatosis Type I and Hodgkin Lymphoma: Case Report and Review of the Literature. [PDF]
Yıldırım ÜM, Kebudi R.
europepmc +1 more source
Rapid airway stenosis due to ruptured occipital artery in a patient with neurofibromatosis type I. [PDF]
Ando H +7 more
europepmc +1 more source

