The microphthalmia-associated transcription factor (MITF) is a key regulator of melanocyte development, function and survival. The p.E318K variant affects SUMOylation at K316 and has been shown to ...
3 Medical Faculty of the University of Porto, Porto, Portugal ...
Background Recurrent preimplantation embryo developmental arrest (RPEA) is the most common phenotype in assisted reproductive technology treatment failure associated with identified genetic ...
1 Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK 2 European Molecular Biology ...
Objectives Mutations in the X-linked endosomal Na+/H+ exchanger 6 (NHE6) cause Christianson syndrome (CS). Here, in the largest study to date, we examine genetic diversity and clinical progression in ...
Background Multiple clinical scoring systems have been proposed for Silver-Russell syndrome (SRS). Here we aimed to test a clinical scoring system for SRS and to analyse the correlation between ...
1 Department of Urology, Peking University First Hospital, Beijing, People’s Republic of China 3 National Urological Cancer Center, Beijing, People’s Republic of China Correspondence to Professor Kan ...
1 Department of Pathology, Brigham and Women’s Hospital, Boston, Massachusetts, USA 2 Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA 3 Harvard Medical School, ...
Background Historically, renal cell carcinoma (RCC) is one of the main causes of death in von Hippel-Lindau (VHL) disease. However, the natural history of VHL-related RCC has not been thoroughly ...
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are imprinting disorders caused by genetic or epigenetic aberrations of 15q11.2-q13. Their clinical testing is often multitiered; diagnostic ...
2 Department of Obstetrics and Gynecology Mount Sinai Hospital, Toronto, ON, Canada 3 The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, ON, Canada 4 Department of ...
2 Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore 3 Duke-NUS Medical School, National University of Singapore, Singapore, Singapore Background Multiple ...
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