Found: 92
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Identification of copy number variants associated with BPES-like phenotypes.
- Published in:
- Human Genetics, 2008, v. 124, n. 5, p. 489, doi. 10.1007/s00439-008-0574-9
- By:
- Publication type:
- Article
Tonsillar Hypertrophy in Goltz-Gorlin Syndrome: Case Report and Literature Review.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0655-0
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- Publication type:
- Article
Replacing vascular corrosion casting by in vivo micro-CT imaging for building 3D cardiovascular models in mice.
- Published in:
- 2011
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- Publication type:
- journal article
Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature.
- Published in:
- European Journal of Pediatrics, 2014, v. 173, n. 5, p. 671, doi. 10.1007/s00431-013-2217-y
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- Publication type:
- Article
Educational paper. Connective tissue disorders with vascular involvement: from gene to therapy.
- Published in:
- 2013
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- Publication type:
- journal article
Educational paper.
- Published in:
- European Journal of Pediatrics, 2013, v. 172, n. 8, p. 997, doi. 10.1007/s00431-012-1773-x
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- Publication type:
- Article
Comparability of different Z-score equations for aortic root dimensions in children with Marfan syndrome.
- Published in:
- Cardiology in the Young, 2021, v. 31, n. 12, p. 1962, doi. 10.1017/S1047951121001311
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- Publication type:
- Article
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 3, p. 342, doi. 10.1111/cge.12990
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- Publication type:
- Article
Current progress in clinical, molecular, and genetic aspects of adult fibromuscular dysplasia.
- Published in:
- Cardiovascular Research, 2022, v. 118, n. 1, p. 65, doi. 10.1093/cvr/cvab086
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- Publication type:
- Article
PTGIR, a susceptibility gene for fibromuscular dysplasia?
- Published in:
- Cardiovascular Research, 2021, v. 117, n. 4, p. 990, doi. 10.1093/cvr/cvaa353
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- Publication type:
- Article
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1824, doi. 10.1002/humu.24433
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- Publication type:
- Article
The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.
- Published in:
- Human Mutation, 2022, v. 43, n. 7, p. 815, doi. 10.1002/humu.24383
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- Publication type:
- Article
A mutation update for the FLNC gene in myopathies and cardiomyopathies.
- Published in:
- Human Mutation, 2020, v. 41, n. 6, p. 1091, doi. 10.1002/humu.24004
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- Publication type:
- Article
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 534, doi. 10.1038/ejhg.2011.239
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- Publication type:
- Article
Nasal speech in patients with 12q15 microdeletions.
- Published in:
- 2012
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- Publication type:
- Letter
Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1032, doi. 10.1038/ejhg.2011.67
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- Publication type:
- Article
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1, doi. 10.1038/ejhg.2011.68
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- Publication type:
- Article
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1100, doi. 10.1038/ejhg.2010.79
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- Publication type:
- Article
Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1].
- Published in:
- 2010
- By:
- Publication type:
- Correction notice
Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 8, p. 895, doi. 10.1038/ejhg.2010.45
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- Publication type:
- Article
Telomeric refinement of the MCKD1 locuson chromosome 1q21.
- Published in:
- Kidney International, 2004, v. 66, n. 2, p. 580, doi. 10.1111/j.1523-1755.2004.00799.x
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- Publication type:
- Article
Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics.
- Published in:
- European Heart Journal, 2022, v. 43, n. 20, p. 1901, doi. 10.1093/eurheartj/ehab895
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- Publication type:
- Article
The search for genotype/phenotype correlation in Marfan syndrome: to be or not to be?
- Published in:
- European Heart Journal, 2016, v. 37, n. 43, p. 3291, doi. 10.1093/eurheartj/ehw154
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- Publication type:
- Article
Neutrophilic dermatoses and aneurysms: An overlooked association?
- Published in:
- Journal of the European Academy of Dermatology & Venereology, 2023, v. 37, n. 12, p. e1461, doi. 10.1111/jdv.19365
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- Publication type:
- Article
varAmpliCNV: analyzing variance of amplicons to detect CNVs in targeted NGS data.
- Published in:
- Bioinformatics, 2023, v. 39, n. 1, p. 1, doi. 10.1093/bioinformatics/btac756
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- Publication type:
- Article
pBRIT: gene prioritization by correlating functional and phenotypic annotations through integrative data fusion.
- Published in:
- Bioinformatics, 2018, v. 34, n. 13, p. 2254, doi. 10.1093/bioinformatics/bty079
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- Publication type:
- Article
iPSC-Derived Cardiomyocytes in Inherited Cardiac Arrhythmias: Pathomechanistic Discovery and Drug Development.
- Published in:
- Biomedicines, 2023, v. 11, n. 2, p. 334, doi. 10.3390/biomedicines11020334
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- Publication type:
- Article
Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1797
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- Publication type:
- Article
Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 9, p. 1, doi. 10.1002/mgg3.1768
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- Publication type:
- Article
Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1251675
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- Publication type:
- Article
Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature.
- Published in:
- Genes, 2019, v. 10, n. 7, p. 528, doi. 10.3390/genes10070528
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- Publication type:
- Article
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants.
- Published in:
- 2019
- By:
- Publication type:
- journal article
SMAD6-deficiency in human genetic disorders.
- Published in:
- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00338-5
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- Publication type:
- Article
Improved selection of zebrafish CRISPR editing by early next-generation sequencing based genotyping.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-27503-9
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- Publication type:
- Article
Genetic testing in patients with unexplained coronary aneurysms or dilation.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
2023 ESC Guidelines for the management of cardiomyopathies: Developed by the task force on the management of cardiomyopathies of the European Society of Cardiology (ESC).
- Published in:
- European Heart Journal, 2023, v. 44, n. 37, p. 3503, doi. 10.1093/eurheartj/ehad194
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- Publication type:
- Article
The emerging role of endothelial cells in the pathogenesis of thoracic aortic aneurysm and dissection.
- Published in:
- European Heart Journal, 2023, v. 44, n. 14, p. 1262, doi. 10.1093/eurheartj/ehac771
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- Publication type:
- Article
Differentiation of Induced Pluripotent Stem Cells Into Chondrocytes: Methods and Applications for Disease Modeling and Drug Discovery.
- Published in:
- Journal of Bone & Mineral Research, 2022, v. 37, n. 3, p. 397, doi. 10.1002/jbmr.4524
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- Publication type:
- Article
Variants in structural cardiac genes in patients with cancer therapy-related cardiac dysfunction after anthracycline chemotherapy: a case control study.
- Published in:
- Cardio-Oncology, 2024, v. 10, n. 1, p. 1, doi. 10.1186/s40959-024-00231-3
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- Publication type:
- Article
Progressive Pulmonary Artery Dilatation is Associated with Type B Aortic Dissection in Patients with Marfan Syndrome.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 11, p. 1848, doi. 10.3390/jcm8111848
- By:
- Publication type:
- Article
Preventing the aortic complications of Marfan syndrome: a case-example of translational genomic medicine.
- Published in:
- British Journal of Clinical Pharmacology, 2011, v. 72, n. 1, p. 6, doi. 10.1111/j.1365-2125.2011.03929.x
- By:
- Publication type:
- Article
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 4, p. 1106, doi. 10.1093/hmg/ddu523
- By:
- Publication type:
- Article
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2590, doi. 10.1093/hmg/ddt107
- By:
- Publication type:
- Article
Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 23, p. 3379, doi. 10.1093/hmg/ddl414
- By:
- Publication type:
- Article
Absence of Cardiovascular Manifestations in a Haploinsufficient Tgfbr1 Mouse Model.
- Published in:
- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0089749
- By:
- Publication type:
- Article
Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02618-4
- By:
- Publication type:
- Article
Corrigendum: Angiotensin II type 1 receptor blockade attenuates TGF-β–induced failure of muscle regeneration in multiple myopathic states.
- Published in:
- 2007
- By:
- Publication type:
- Correction notice