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Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5
2020 - Forschungsinformationssystem des UKE
Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular non-compaction phenotype
2019 - Forschungsinformationssystem des UKE - frei zugänglich
Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.
2012 - Forschungsinformationssystem des UKE
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
2011 - Forschungsinformationssystem des UKE
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.
2009 - Forschungsinformationssystem des UKE
Loss of SFRP1 is associated with breast cancer progression and poor prognosis in early stage tumors.
2004 - Forschungsinformationssystem des UKE
Deletions of chromosome 8p and loss of sFRP1 expression are progression markers of papillary bladder cancer.
2004 - Forschungsinformationssystem des UKE