Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren–Larsson syndrome

the past hospitalization and its association with suicide attempts and ideation in patients with mdd and comparison with bmd (depressed type) group

چکیده ندارد.

Three Novel Mutations in Iranian Patients with Tay-Sachs Disease

Background: Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing mutations in‌ an Iranian population. Methods: In this study, we examined 31 patients for TSD-causing m...

126 novel mutations in Italian patients with neurofibromatosis type 1

Genetic analysis of Neurofibromatosis type 1 (NF1) may facilitate the identification of patients in early phases of the disease. Here, we present an overview of our diagnostic research spanning the last 11 years, with a focus on the description of 225 NF1 mutations, 126 of which are novel, found in a series of 607 patients (513 unrelated) in Italy. Between 2003 and 2013, 443 unrelated patients ...

Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome.

Novel and recurrent FERMT1 gene mutations in Kindler syndrome.

Kindler syndrome (OMIM 173650) is an autosomal recessive condition characterized by skin blistering, skin atrophy, photosensitivity, colonic inflammation and mucosal stenosis. Fewer than 100 cases have been described in the literature. First reported in 1954, the molecular basis of Kindler syndrome was elucidated in 2003 with the discovery of FERMT1 (KIND1) loss-of-function mutations in affecte...