Results 71 to 80 of about 146,538 (175)
Thyroid Function Abnormalities in COVID-19 Patients
Purpose The novel coronavirus COVID-19, has caused a worldwide pandemic, impairing several human organs and systems. Whether COVID-19 affects human thyroid function remains unknown.
Weibin Wang +12 more
semanticscholar +1 more source
Quantitative Assessment of Whole-Body Tumor Burden in Adult Patients with Neurofibromatosis [PDF]
Patients with neurofibromatosis 1 (NF1), NF2, and schwannomatosis are at risk for multiple nerve sheath tumors and premature mortality. Traditional magnetic resonance imaging (MRI) has limited ability to assess disease burden accurately.
Alona Muzikansky +53 more
core +3 more sources
Eye phenotypes were investigated in Le-CreTg/−; Pax6fl/+ mice, which were expected to show tissue-specific reduction of Pax6 in surface ectoderm derivatives.
Natalie J. Dorà +3 more
semanticscholar +1 more source
IntroductionAbnormal body temperatures (Tb) are frequently seen in patients with severe sepsis. However, the relationship between Tb abnormalities and the severity of disease is not clear.
S. Kushimoto +18 more
semanticscholar +1 more source
Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients [PDF]
Paired box 1 (PAX1) deficiency has been reported in a small number of patients diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new patients who demonstrated variable clinical penetrance.
Adams, Stuart +38 more
core
Next-generation sequencing identifies mechanisms of tumourigenesis caused by loss of SMARCB1 in Malignant Rhabdoid Tumours [PDF]
PhD ThesisIntroduction: Malignant Rhabdoid Tumours (MRT) are unique malignancies caused by biallelic inactivation of a single gene (SMARCB1). SMARCB1 encodes for a protein that is part of the SWI/SNF chromatin remodelling complex, responsible for the ...
Finetti, Martina Anna
core
Relapsed and refractory malignant rhabdoid tumors – Evaluation of new therapeutic approaches [PDF]
Relapse or progression of malignant rhabdoid tumors (MRT) is a frequent event, but our knowledge on this topic is insufficient. There is no standard algorithm for salvage therapy and clinical trial access is limited for this young patient population. The
Steinbügl, Mona Juliane
core
Identification of the cellular origin and 'stemness' phenotype of Malignant Rhabdoid Tumours (MRT) may represent a new therapeutic approach in paediatric oncology [PDF]
PhD ThesisIntroduction: Malignant Rhabdoid Tumours (MRT) are especially lethal cancers that predominantly occur in infants and young children. MRT are caused by biallelic inactivation of a single gene; SMARCB1 which is a component of SWI/SNF chromatin
Ramli, Ras Azira Binti
core
Diffusion and Perfusion MRI in Paediatric Posterior Fossa Tumours [PDF]
Brain tumours in children frequently occur in the posterior fossa. Most undergo surgical resection, after which up to 25% develop cerebellar mutism syndrome (CMS), characterised by mutism, emotional lability and cerebellar motor signs; these typically ...
Toescu, Sebastian
core

