All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.

Craniosynostosis

Human Genetics   Research Article

A targeted NGS approach to identify a c.352C>G variant in the TWIST1 gene in an Albanian family with Saethre�Chotzen syndrome

Authors: Elena Manara, Denisa Guraj, Francesca Fanelli, Paolo E Maltese, Anila Babameto-Laku, Natale Capodicasa , Sandro Michelini, Bruno Amato, Matteo Bertelli

A targeted next generation sequencing (NGS) approach analysing contemporaneously 20 different genes mainly involved in craniosynostosis was adopted to molecularly diagnose the family of a 2-years old girl affected by Saethre–Chotzen syndrome, a syndromic form of craniosynostosis. The identified pathogenic variant in the .. Read More»

Genet. Mol. Res. 16(4):
gmr16039828
DOI:
10.4238/gmr16039828
Human Genetics   Research Article

Mutations in the FGFR2 gene in Mexican patients with Apert syndrome

Authors: A. Ibarra-Arce, G. Ortiz de Z�¡rate-Alarc�³n, L.G. Flores-Pe�±a,F. Mart�­nez-Hern�¡ndez, M. Romero-Valdovinos and A. Olivo-D�­az

Apert syndrome (AS) is a frequent acrocephalosyndactyly, with autosomal dominant inheritance. AS has been associated with mutations in fibroblast growth factor receptor 2 (FGFR2), and approximately 99% of cases show 2 of the frequent mutations located in exon IIIa (Ser252Trp or Pro253Arg). The purpose of the present study was to describe the mutations in .. Read More»

Genet. Mol. Res. 14(1):
2015.March.27.19
DOI:
10.4238/2015.March.27.19