Małgorzata Krajewska-Walasek

TL;DR: An international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management of Beckwith–Wiedemann syndrome, including comprehensive protocols for the molecular investigation, care and treatment of patients from the prenatal period to adulthood.

TL;DR: It is suggested that promoter elements at SNRPN play a key role in the initiation of imprint switching during spermatogenesis, since the epigenetic effect of an IM in the parental germ line determines the phenotypic effect in the patient.

TL;DR: The identification of SMARCA2 mutations in humans provides insight into the function of the Snf2 helicase family and alterations likely do not impair SWI/SNF complex assembly but may be associated with disrupted ATPase activity.

TL;DR: The mitochondrial localization together with the immunohistopathological findings suggests a pathomechanistic overlap with common forms of neurodegenerative disorders.

TL;DR: One hundred and thirty-four families or individuals with auditory-pigmentary syndromes such as Waardenburg syndrome (WS) or probable neurocristopathies were screened for mutations in the PAX3 and MITF genes as mentioned in this paper.