ReviewGenes2019
Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.
Review in Genes, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed, 40 citations in OpenAlex.
- Staged surgical management of multiple arterial aneurysms in aneurysms osteoarthritis syndrome with a novel SMAD3 mutation.Journal of vascular surgery cases and innovative techniques · 2026Article
- From Lived Experiences to Systemic Change: Patient Perspectives on the Diagnostic Journey of Loeys-Dietz Syndrome.CJC open · 2026Article
- Development of a zebrafish model of Loeys-Dietz syndrome through tgfbr2b knockdown.Journal of human genetics · 2026Article
- Review
- The Role of Genetic Variation in Phenotypic Variability in Loeys-Dietz Syndrome.Human mutation · 2026Article
- Diagnosis of skeletal fragility due to Loeys-Dietz syndrome and treatment with romosozumab followed by denosumab.Bone reports · 2025Article
- Chemokine (C-C Motif) Ligand 2 Expressing Adventitial Fibroblast Expansion During Loeys-Dietz Syndrome Aortic Aneurysm Formation.Arteriosclerosis, thrombosis, and vascular biology · 2025Article
- Identification of TGFBR1 Gene Variants in Two Chinese Pedigrees with Loeys-Dietz Syndrome.Brazilian journal of cardiovascular surgery · 2025Article
- The double whammy of ER-retention and dominant-negative effects in numerous autosomal dominant diseases: significance in disease mechanisms and therapy.Journal of biomedical science · 2024Review
- Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation.Human molecular genetics · 2024Article
- Impact of self-assessment on dental student's performance in pre-clinical conservative dentistry course.BMC oral health · 2024Article
- Unraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disorders.Advances in rheumatology (London, England) · 2024Review
- Impact of Genotype-Phenotype Interactions on Cardiovascular Function in Paediatric Loeys-Dietz Syndrome.CJC pediatric and congenital heart disease · 2024Article
- Understanding genomic medicine for thoracic aortic disease through the lens of induced pluripotent stem cells.Frontiers in cardiovascular medicine · 2024Review
- Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies.Diagnostics (Basel, Switzerland) · 2023Review
- Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.European journal of human genetics : EJHG · 2023Article
- Unusual presentation of Loeys-Dietz syndrome: A case report of clinical findings and treatment challenges.World journal of clinical cases · 2022Article
- Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method.Journal of medical genetics · 2022Article
- Integration of multiple imaging platforms to uncover cardiovascular defects in adult zebrafish.Cardiovascular research · 2022Article
- Cleft Palate and Aortic Dilatation as Clues for Loeys-Dietz Syndrome.Children (Basel, Switzerland) · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Loeys-Dietz syndrome (LDS) is a connective tissue disorder first described in 2005 featuring aortic/arterial aneurysms, dissections, and tortuosity associated with craniofacial, osteoarticular, musculoskeletal, and cutaneous manifestations. Heterozygous mutations in 6 genes (
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.