Prostate cancer (PCa) is one of the most common malignancies found in males. The
development of PCa involves several mutations in prostate epithelial cells, usually linked to …

Adipose tissue-derived stem cells (ASCs) association to fat in autologous lipotransfer is
promising for a more effective soft tissue reconstruction, and optimization of protocols to …

Gain-of-function mutations in FGFR2 cause Apert syndrome (AS), a disease characterized
by craniosynostosis and limb bone defects both due to abnormalities in bone differentiation …

Approximately a hundred patients with terminal 10q deletions have been described. They
present with a wide range of clinical features always accompanied by delayed development …

Background Pathogenic heterozygous SIX1 variants (predominantly missense) occur in
branchio-otic syndrome (BOS), but an association with craniosynostosis has not been …

Apert Syndrome (AS) is one of the most severe forms of craniosynostosis. It is caused by
gain-of-function mutations in the receptor fibroblast growth factor receptor 2 (FGFR2), which …

Richieri-Costa-Pereira syndrome (RCPS; OMIM# 268305) is a rare autosomal-recessive
acrofacial dysostosis characterised by midline mandibular cleft, micrognathia, Robin …

Results: 1. On page 690 where is written “Four weeks after the surgery, the right-side: left-
side ossification ratio was 4.9 in S252W fibroblasts and 1.9 compared to WT fibroblasts (2.6 …

As craniossinostoses são malformações craniofaciais caracterizadas pelo fechamento
precoce de uma ou mais suturas cranianas. Elas são doenças congênitas e são causadas …

Mutações do tipo ganho de função em FGFR2 causam a síndrome de Apert, uma doença
rara caracterizada por craniossinostose e defeitos ósseos nos membros devidos a …