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Más de 600 publicaciones de usuarios de Alamut® Visual o Alamut® Batch.

01.07.16

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.
Saber más : Markova, Simona et al. International Journal of Pediatric Otorhinolaryngology. 2016 Jul

01.06.16

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.
Saber más : Ciara, E. et al. Molecular Genetics and Metabolism Reports. 2016 Jun

15.05.16

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.
Saber más : Balicza, Peter et al. Journal of the Neurological Sciences. 2016 May

13.05.16

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.
Saber más : Weckhuysen, Sarah et al. Epilepsia. 2016 May

05.05.16

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.
Saber más : van den Boogaard, Marlinde L. et al. The American Journal of Human Genetics. 2016 May

05.05.16

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.
Saber más : Jelsig, Anne Marie et al. Scandinavian Journal of Gastroenterology. 2016 May

04.05.16

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.
Saber más : Tang, Rongying et al. Advances in Bioinformatics. 2016 May

01.05.16

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.
Saber más : Dimitri, Paul et al. American Journal of Medical Genetics Part A. 2016 May

26.04.16

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.
Saber más : Latger-Cannard, Veronique et al. Orphanet Journal of Rare Diseases. 2016 Apr

26.04.16

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.
Saber más : Tong, J. H. S. et al. Molecular Psychiatry. 2016 Apr



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acerca de Alamut Visual

"In developing new genetic assays and evaluating the implications of newly identified sequence variations, Alamut helps me work faster and safer to ensure and document quality in assay design and interpretations."

HELGE ROOTWELT M.D. Ph.D.
Oslo University Hospital, Norway

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31.10.2016

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