A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis
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Title
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis
Authors
Keywords
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Journal
HUMAN GENETICS
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2020-01-25
DOI
10.1007/s00439-019-02102-9
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Note: Only part of the references are listed.- Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)
- (2019) Pauline Arnaud et al. GENETICS IN MEDICINE
- A de novo mutation in DHD domain of SKI causing spina bifida with no craniofacial malformation or intellectual disability
- (2019) Ling Zhang et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Shprintzen-Goldberg syndrome associated with first cervical vertebra defects
- (2017) Tomohiro Saito et al. PEDIATRICS INTERNATIONAL
- Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test
- (2016) J. Thevenon et al. CLINICAL GENETICS
- HGVS Recommendations for the Description of Sequence Variants: 2016 Update
- (2016) Johan T. den Dunnen et al. HUMAN MUTATION
- Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations
- (2016) J. K. Poninska et al. Journal of Translational Medicine
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- SMAD2Mutations Are Associated with Arterial Aneurysms and Dissections
- (2015) Dimitra Micha et al. HUMAN MUTATION
- Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections
- (2015) Aida M. Bertoli-Avella et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Reference Values for Echocardiographic Assessment of the Diameter of the Aortic Root and Ascending Aorta Spanning All Age Categories
- (2014) Laurence Campens et al. AMERICAN JOURNAL OF CARDIOLOGY
- Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life
- (2014) Julien Thevenon et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome
- (2014) Dorien Schepers et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- De novo exon 1 missense mutations ofSKIand Shprintzen-Goldberg syndrome: Two new cases and a clinical review
- (2013) P.Y. Billie Au et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome
- (2012) Virginie Carmignac et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Ski inhibits TGF-β/phospho-Smad3 signaling and accelerates hypertrophic differentiation in chondrocytes
- (2012) Kyung-Ok Kim et al. JOURNAL OF CELLULAR BIOCHEMISTRY
- TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome
- (2012) Catherine Boileau et al. NATURE GENETICS
- Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm
- (2012) Alexander J Doyle et al. NATURE GENETICS
- Protooncogene Ski cooperates with the chromatin-remodeling factor Satb2 in specifying callosal neurons
- (2012) C. Baranek et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The new Ghent criteria for Marfan syndrome: what do they change?
- (2011) L Faivre et al. CLINICAL GENETICS
- Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
- (2011) Ingrid M B H van de Laar et al. NATURE GENETICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- The revised Ghent nosology for the Marfan syndrome
- (2010) B. L. Loeys et al. JOURNAL OF MEDICAL GENETICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity-application to four genes:FBN1,FBN2,TGFBR1, andTGFBR2
- (2009) Mélissa Yana Frédéric et al. HUMAN MUTATION
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Ski and SnoN, potent negative regulators of TGF-β signaling
- (2008) Julien Deheuninck et al. CELL RESEARCH
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