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1989 1
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2004 2
2008 1
2012 1
2015 1
2016 3
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2019 1
2020 1
2022 1
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17 results

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Page 1
Toward an orofacial gene regulatory network.
Kousa YA, Schutte BC. Kousa YA, et al. Dev Dyn. 2016 Mar;245(3):220-32. doi: 10.1002/dvdy.24341. Epub 2015 Sep 17. Dev Dyn. 2016. PMID: 26332872 Free PMC article. Review.
Rare variants in IRF6 can lead to Van der Woude syndrome (1/35,000 live births) and popliteal pterygium syndrome (1/300,000 live births). Furthermore, IRF6 regulates GRHL3 and rare variants in this downstream target can also lead to Van der Woude syndrome. ...
Rare variants in IRF6 can lead to Van der Woude syndrome (1/35,000 live births) and popliteal pterygium syndrome (1/300,000 li …
Periderm: Life-cycle and function during orofacial and epidermal development.
Hammond NL, Dixon J, Dixon MJ. Hammond NL, et al. Semin Cell Dev Biol. 2019 Jul;91:75-83. doi: 10.1016/j.semcdb.2017.08.021. Epub 2017 Aug 10. Semin Cell Dev Biol. 2019. PMID: 28803895 Review.
Disruption of periderm formation and/or function underlies a series of birth defects that exhibit multiple inter-epithelial adhesions including the autosomal dominant popliteal pterygium syndrome and the autosomal recessive cocoon syndrome and Bartsocas Papas syndro …
Disruption of periderm formation and/or function underlies a series of birth defects that exhibit multiple inter-epithelial adhesions includ …
An update on the aetiology of orofacial clefts.
Wong FK, Hagg U. Wong FK, et al. Hong Kong Med J. 2004 Oct;10(5):331-6. Hong Kong Med J. 2004. PMID: 15479962 Free article. Review.
Three of them--namely T-box transcription factor-22 (TBX22), poliovirus receptor like-1 (PVRL1), and interferon regulatory factor-6 (IRF6)--are responsible for causing X-linked cleft palate, cleft lip/palate-ectodermal dysplasia syndrome, and Van der Woude's and popliteal
Three of them--namely T-box transcription factor-22 (TBX22), poliovirus receptor like-1 (PVRL1), and interferon regulatory factor-6 (IRF6)-- …
Popliteal pterygium syndrome: an orthopaedic perspective.
Oppenheim WL, Larson KR, McNabb MB, Smith CF, Setoguchi Y. Oppenheim WL, et al. J Pediatr Orthop. 1990 Jan-Feb;10(1):58-64. J Pediatr Orthop. 1990. PMID: 2405020 Review.
Popliteal pterygium syndrome (PPS) is a rare autosomal dominant disorder consisting of popliteal webs and craniofacial, genitourinary, and extremity anomalies. The popliteal webs make this syndrome particularly important to the orthopaedic surgeon. ...
Popliteal pterygium syndrome (PPS) is a rare autosomal dominant disorder consisting of popliteal webs and craniofacial,
Management of knee deformities in children with arthrogryposis.
Lampasi M, Antonioli D, Donzelli O. Lampasi M, et al. Musculoskelet Surg. 2012 Dec;96(3):161-9. doi: 10.1007/s12306-012-0218-z. Epub 2012 Aug 9. Musculoskelet Surg. 2012. PMID: 22875688 Review.
Surgical procedures vary with severity of contracture and patient age and include soft-tissue release, femoral shortening-extension osteotomy, gradual correction with Ilizarov, and femoral anterior epiphysiodesis. The presence of pterygium greatly complicates treatment, gi …
Surgical procedures vary with severity of contracture and patient age and include soft-tissue release, femoral shortening-extension osteotom …
The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility.
Askarian S, Gholami M, Khalili-Tanha G, Tehrani NC, Joudi M, Khazaei M, Ferns GA, Hassanian SM, Avan A, Joodi M. Askarian S, et al. Oral Maxillofac Surg. 2023 Jun;27(2):177-186. doi: 10.1007/s10006-022-01052-3. Epub 2022 Apr 15. Oral Maxillofac Surg. 2023. PMID: 35426585 Review.
There is a growing body of data illustrating the association of several genes with risk of developing this malformation, including genetic defects in T-box transcription factor-22 (TBX22), interferon regulatory factor-6 (IRF6), and poliovirus receptor-like-1 (PVRL1), responsible …
There is a growing body of data illustrating the association of several genes with risk of developing this malformation, including genetic d …
Genetic Factors in Selected Complex Congenital Malformations with Cleft Defect.
Wójcicki P, Koźlik MJ, Wójcicka K. Wójcicki P, et al. Adv Clin Exp Med. 2016 Sep-Oct;25(5):977-987. doi: 10.17219/acem/61911. Adv Clin Exp Med. 2016. PMID: 28028964 Free article. Review.
The aim of this study was to present various clinical aspects and the latest discoveries with regard to genetic research in complex malformations, such as Van der Woude syndrome, popliteal pterygium syndrome, EEC syndrome, Pierre Robin sequence, various forms of Sti …
The aim of this study was to present various clinical aspects and the latest discoveries with regard to genetic research in complex malforma …
Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.
Alade AA, Buxo-Martinez CJ, Mossey PA, Gowans LJJ, Eshete MA, Adeyemo WL, Naicker T, Awotoye WA, Adeleke C, Busch T, Toraño AM, Bello CA, Soto M, Soto M, Ledesma R, Marquez M, Cordero JF, Lopez-Del Valle LM, Salcedo MI, Debs N, Li M, Petrin A, Olotu J, Aldous C, Olutayo J, Ogunlewe MO, Abate F, Hailu T, Muhammed I, Gravem P, Deribew M, Gesses M, Hassan M, Pape J, Adeniyan OA, Obiri-Yeboah S, Arthur FKN, Oti AA, Olatosi O, Miller SE, Donkor P, Dunnwald MM, Marazita ML, Adeyemo AA, Murray JC, Butali A. Alade AA, et al. Mol Genet Genomic Med. 2020 Aug;8(8):e1355. doi: 10.1002/mgg3.1355. Epub 2020 Jun 17. Mol Genet Genomic Med. 2020. PMID: 32558391 Free PMC article. Review.
METHODS: We used PubMed with the search terms; "Van der Woude syndrome," "Popliteal pterygium syndrome," "IRF6," and "Orofacial cleft" to identify eligible studies. ...
METHODS: We used PubMed with the search terms; "Van der Woude syndrome," "Popliteal pterygium syndrome," "IRF6," and "Orofacia …
[Pterygium syndrome, popliteal].
Kurosawa K. Kurosawa K. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):548-9. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11528887 Review. Japanese. No abstract available.
Bartsocas-Papas Syndrome: A Case Report and Review of the Literature.
Erturan G, Holton J, Wall S, Giele H. Erturan G, et al. Ann Plast Surg. 2016 Apr;76(4):459-62. doi: 10.1097/SAP.0000000000000348. Ann Plast Surg. 2016. PMID: 25275471 Review.
Bartsocas-Papas syndrome (BPS) is an autosomal recessively inherited form of the popliteal pterygium syndrome characterized by severe growth retardation, midface hypoplasia, popliteal pterygia, and syndactyly. ...
Bartsocas-Papas syndrome (BPS) is an autosomal recessively inherited form of the popliteal pterygium syndrome characterized by …
17 results