The DOI matches its Crossref record; 57 of the 57 references it cites were found in a registry or an index.
Genetic analysis of non‐syndromic craniosynostosis
Open accessAbstract
Structured Abstract: Authors – Simeon A. Boyadjiev Craniosynostosis is a common malformation occurring in 3–5 per 10 000 live births. Most often craniosynostosis occurs as an isolated (i.e. non‐syndromic) anomaly. Non‐syndromic craniosynostosis (NSC) is a clinically and genetically heterogeneous condition that has the characteristics of a multifactorial trait. It is believed that each sutural synostosis (e.g. sagittal, coronal) represents a different disease. Significant progress has been made in understanding the clinical and molecular aspects of monogenic syndromic craniosynostosis. However, the phenotypic characterization of NSC is incomplete and its causes remain unknown. This review summarizes the available knowledge on NSC and presents a systematic approach aimed at the identification of genetic and non‐genetic factors contributing to the risk of this common craniofacial defect.
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“Although the numbers of patients tested in some groups were relatively small, the low success rate of molecular diagnosis in sagittal synostosis has been independently confirmed.39”
From Craniosynostosis (2011) · cites this paper as [39]
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Metadata
- Authors
- Boyadjiev, S., & for the International Craniosynostosis Consortium
- Affiliations
- University of California, Davis (US)
- Corresponding author
- Boyadjiev, SA
- Venue
- Orthodontics & Craniofacial Research
- Publisher
- Wiley
- Published
- 2007-07-21
- Volume
- 10
- Issue
- 3
- Pages
- 129-137
- ISSN
- 1601-6335 (ISSN-L)
- 1601-6343
- OpenAlex
- W2164204351
- Cited by
- 135
- References
- 56
- Citations by year
- 2026: 1 · 2025: 5 · 2024: 8 · 2023: 10 · 2022: 12 · 2021: 6 · 2020: 7 · 2019: 9 · 2018: 6 · 2017: 15 · 2016: 9 · 2015: 5 · 2014: 6 · 2013: 9 · 2012: 9
- FWCI
- 0.28
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Orthodontics and Craniofacial Research (publishedVersion)
- PubMed (publishedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- Funders
- University of Missouri
- Washington University in St. Louis
- University of Washington
- Johns Hopkins University
- University of Oklahoma
- Deutsches Krebsforschungszentrum
- Children's Miracle Network Hospitals
- University of Oxford
- Universität zu Köln
- National Institutes of Health (RR-00052)
- University of California, Davis
- University of California, Irvine
- National Institute on Deafness and Other Communication Disorders (M01-RR00052)
- National Institute of Dental and Craniofacial Research (K23 DE 00462, R03DE016342, K23DE000462, R01DE016886)
- National Center for Research Resources (M01 RR-00052, RR 000 52, M01RR000052)
- Topics
- Health Sciences › Medicine › Surgery › Craniofacial Disorders and Treatments
- Health Sciences › Dentistry › General Dentistry › dental development and anomalies
- Health Sciences › Dentistry › Oral Surgery › Cleft Lip and Palate Research
- Keywords
- nonsyndromic craniosynostosis, cranial sutures, sagittal synostosis, coronal synostosis, genetic risk factors, craniofacial defects
- MeSH terms
- Cranial Sutures, Craniosynostoses, Humans, Molecular Biology, Phenotype, Risk Factors, Syndrome
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