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MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported
(ELSEVIER SCIENCE BV, 2009)
Sotos syndrome (MIM #117550) is an autosomal dominant condition characterized by pre and postnatal overgrowth, macrocephaly and typical facial gestalt with frontal bossing, hypertelorism, antimongoloid slant of the palpebral ...
MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported
(Elsevier B.V., 2009-09-01)
Sotos syndrome (MIM #117550) is an autosomal dominant condition characterized by pre and postnatal overgrowth, macrocephaly and typical facial gestalt with frontal bossing, hypertelorism, antimongoloid slant of the palpebral ...
NSD1 inactivation defines an immune cold, DNA hypomethylated subtype in squamous cell carcinoma
(Nature Publishing Group, 2017-12)
Chromatin modifying enzymes are frequently mutated in cancer, resulting in widespread epigenetic deregulation. Recent reports indicate that inactivating mutations in the histone methyltransferase NSD1 define an intrinsic ...
Clinical and Molecular Heterogeneity in Brazilian Patients with Sotos Syndrome
(Karger, 2015-01-01)
Sotos syndrome (SoS) is a multiple anomaly, congenital disorder characterized by overgrowth, macrocephaly, distinctive facial features and variable degree of intellectual disability. Haploinsufficiency of the NSD1 gene at ...
Estudo metabólico da proteína PDP3 de Saccharomyces cerevisiae, cujo domínio PWWP se assemelha ao do oncogene humano NSD3
(Universidade Federal do Rio de JaneiroBrasilInstituto de QuímicaUFRJ, 2018)