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Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review.
Cuvelier V, Trost D, Stichelbout M, Michot C, Cormier-Daire V, Boutry N, Machet E, Vincent-Delorme C. Cuvelier V, et al. Prenat Diagn. 2024 Aug;44(9):1098-1104. doi: 10.1002/pd.6631. Epub 2024 Jun 23. Prenat Diagn. 2024. PMID: 38922934 Review.
This article presents two fetal cases of gnathodiaphyseal dysplasia (GDD), a rare autosomal dominant disorder, and reviews the relevant literature. ...
This article presents two fetal cases of gnathodiaphyseal dysplasia (GDD), a rare autosomal dominant disorder, and reviews the …
Lifting the veils on TMEM16E function.
Boccaccio A, Di Zanni E, Gradogna A, Scholz-Starke J. Boccaccio A, et al. Channels (Austin). 2019 Dec;13(1):33-35. doi: 10.1080/19336950.2018.1557470. Channels (Austin). 2019. PMID: 30672373 Free PMC article. Review. No abstract available.
Gnathodiaphyseal dysplasia with a novel R597I mutation of ANO5: Mandibular reconstruction strategies.
Marechal G, Schouman T, Mauprivez C, Benassarou M, Chaine A, Diner PA, Zazurca F, Soupre V, Michot C, Baujat G, Khonsari RH. Marechal G, et al. J Stomatol Oral Maxillofac Surg. 2019 Nov;120(5):428-431. doi: 10.1016/j.jormas.2019.01.005. Epub 2019 Jan 11. J Stomatol Oral Maxillofac Surg. 2019. PMID: 30641283 Review.
Gnathodiaphyseal Dysplasia (GDD) is a rare, often misdiagnosed, autosomal-dominant disorder due to point mutations in the ANO5 gene. ...
Gnathodiaphyseal Dysplasia (GDD) is a rare, often misdiagnosed, autosomal-dominant disorder due to point mutations in the ANO5
Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review.
Zhou Z, Zhang Y, Zhu L, Cui Y, Gao Y, Zhou CX. Zhou Z, et al. Mol Genet Genomic Med. 2024 Jan;12(1):e2277. doi: 10.1002/mgg3.2277. Epub 2023 Aug 30. Mol Genet Genomic Med. 2024. PMID: 37649308 Free PMC article. Review.
Furthermore, autosomal dominant mutations in ANO5 at this locus have been identified in patients with gnathodiaphyseal dysplasia (GDD) and are considered a potential causative agent, suggesting a genetic association between FGC and GDD. ...
Furthermore, autosomal dominant mutations in ANO5 at this locus have been identified in patients with gnathodiaphyseal dysplasia
Modulating Ca²⁺ signals: a common theme for TMEM16, Ist2, and TMC.
Kunzelmann K, Cabrita I, Wanitchakool P, Ousingsawat J, Sirianant L, Benedetto R, Schreiber R. Kunzelmann K, et al. Pflugers Arch. 2016 Mar;468(3):475-90. doi: 10.1007/s00424-015-1767-4. Epub 2015 Dec 23. Pflugers Arch. 2016. PMID: 26700940 Review.
Compromised anoctamin function is causing a wide range of diseases, such as hearing loss (ANO2), bleeding disorder (ANO6), ataxia and dystonia (ANO3, 10), persistent borrelia and mycobacteria infection (ANO10), skeletal syndromes like gnathodiaphyseal dysplasia and …
Compromised anoctamin function is causing a wide range of diseases, such as hearing loss (ANO2), bleeding disorder (ANO6), ataxia and dyston …