メディアセンター



文献

600以上の科学技術文献がAlamut Visual または Alamut Batchソフトウェアを引用しています。

01.07.2016

Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients

Alamut® Visual

Simona Markova and colleagues report a Sanger-sequecing analysis done on eight small NSHL-AR (non-syndromic deafness, autosomal recessive) genes to hereditary hearing loss in Czech patients. They identified variants predicted as pathogenic in genes CABP2, ILDR1, LHFPL5 and LRTOMT. Their diagnostic approach permitted the clarification of HL in only one patient - two heterozygous mutations were detected in LHFPL5 gene for the first time in Central Europe.
続きを読む : Markova, Simona et al. International Journal of Pediatric Otorhinolaryngology. 2016 Jul

01.06.2016

Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing

Alamut® Visual

E. Ciara and colleagues conduct a study to assess the diagnostic value of biochemical methods in recognition of Pyruvate dehydrogenase complex (PDHc) defect in Polish patients with suspicion of mitochondrial disorders (MD). They also conducted whole exome sequencing and identified seven different PDHA1 changes, including two novel variants [c.464T > C (p.Met155Thr) and c.856_859dupACTT (p.Arg288Leufs*10)] and one DLD variant.
続きを読む : Ciara, E. et al. Molecular Genetics and Metabolism Reports. 2016 Jun

15.05.2016

Genetic background of the hereditary spastic paraplegia phenotypes in Hungary ? An analysis of 58 probands

Alamut® Visual

Peter Balicza and colleagues conduct a study on known HSP causing genes on patients with Background Hereditary spastic paraplegias (HSPs). They performed sequencing analyses including next generation sequencing and found nine previously unreported mutations with high confidence for pathogenicity.
続きを読む : Balicza, Peter et al. Journal of the Neurological Sciences. 2016 May

13.05.2016

Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia – Weckhuysen – 2016 – Epilepsia – Wiley Online Library

Alamut® Visual

Sarah Weckhuysen and colleagues report a study based on targeted sequencing of the genes encoding the components of the GATOR1 (DEPDC5, NPRL2, and NPRL3) and GATOR2 (MIOS, SEC13, SEH1L, WDR24, and WDR59) complex in European probands with focal epilepsy with or without focal cortical dysplasia. They identified four pathogenic variants in DEPDC5, two in NPRL2, and one in NPRL3 and showed hyperactivation of the mTORC1 pathway in brain tissue from patients with NPRL2 and NPRL3 mutations.
続きを読む : Weckhuysen, Sarah et al. Epilepsia. 2016 May

05.05.2016

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy

Alamut® Visual

Marlinde L. van den Boogaard conduct analyses suggesting transcription of DUX4 in somatic cells is modified by variations in its epigenetic state and provide a basis for understanding the reduced penetrance of Facioscapulohumeral dystrophy (FSHD) within families.
続きを読む : van den Boogaard, Marlinde L. et al. The American Journal of Human Genetics. 2016 May

05.05.2016

Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps

Alamut® Visual

Anne Marie Jelsig and colleagues conduct gene panel sequencing expirements26 hamartomatous polyposis-associated genes on patients with hamartomatous polyps in the GI tract has a hereditary Hamartomatous Polyposis Syndrome with an increased risk of cancer. They identified several germline variants, among them three in ENG, two in BMPR1A, one in PTEN, and one in SMAD4. Their results suggested that although some of the detected variants have been reported previously none could be definitely pathogenic or likely pathogenic.
続きを読む : Jelsig, Anne Marie et al. Scandinavian Journal of Gastroenterology. 2016 May

04.05.2016

Evaluation of bioinformatic programmes for the analysis of variants within splice site consensus regions

Alamut® Visual

Debra O. Prosser, Rongying Tang, Donald R. Love evaluate the sensitivity and specificity of four in silico programmes in predicting the effect of each variant on splicing. The programmes comprised Human Splice Finder (HSF), Max Entropy Scan (MES), NNSplice and ASSP.
続きを読む : Tang, Rongying et al. Advances in Bioinformatics. 2016 May

01.05.2016

An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3)

Alamut® Batch

Paul Dimitri and Meena Balasubramanian and colleagues report a study that describes the common facial dysmorphism consisting of bilateral low-set ears, depressed nasal bridge with overhanging columella, elongated, upslanted palpebral fissures, persistent long philtrum with a thin vermilion border of the upper lip in a cohort of seven patients with GLIS3 mutations. They reported the emergence of a distinct, probably recognizable facial gestalt in this group which evolves with age.
続きを読む : Dimitri, Paul et al. American Journal of Medical Genetics Part A. 2016 May

26.04.2016

Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders

Alamut® Visual

Veronique Latger-Cannard and colleagues conduct analyses to describe the natural history, the haematological features and the genotype-phenotype correlations of FPD/AML (OMIM 601309) condition. They identified five missense, one non-sense, three frameshift mutations and two large deletions involving several genes including RUNX1.
続きを読む : Latger-Cannard, Veronique et al. Orphanet Journal of Rare Diseases. 2016 Apr

26.04.2016

Separating the wheat from the chaff: systematic identification of functionally relevant noncoding variants in ADHD

Alamut® Visual

J H S Tong and colleagues report a study that brings into sharp focus the likely relevance of noncoding variants for the genetic risk associated with Attention deficit hyperactivity disorder (ADHD). They conducted a bioinformatics approach that should be relevant to other psychiatric disorders.
続きを読む : Tong, J. H. S. et al. Molecular Psychiatry. 2016 Apr



Alamut Visualに
寄せられた感想

"We were early Alamut adopters and this software has become essential to our daily diagnosis lab practice, saving time and reducing mistakes. The intuitivity of use and the new functionalities are a very useful help in our daily work."

PASCALE RICHARD M.D. Ph.D.
Paris, France

イベント

22.03.2017

ACMG 2017

USA

31.10.2016

Variant Effect Prediction Training Course

Greece