Results 211 to 220 of about 608,875 (341)

Real‐World Outcomes of Mycosis Fungoides and Site‐Specific Nodal Involvement: A Registry‐Based Study of 25 467 Patients

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Mycosis fungoides (MF) is a rare extranodal T‐cell lymphoma with primary cutaneous involvement. While it is the most common primary skin lymphoma, large‐scale real‐world data defining survival benchmarks and the prognostic significance of specific nodal sites remain limited.
Charalampos Filippatos   +4 more
wiley   +1 more source

Adult-onset PLEC-related congenital myasthenic syndrome-myopathy overlap with upper limb predominant weakness. [PDF]

open access: yesNeurogenetics
Jose A   +8 more
europepmc   +2 more sources

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth   +7 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide   +10 more
wiley   +1 more source

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