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1989 1
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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 …
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. ...
Popliteal pterygium syndrome (PPS) is a rare autosomal dominant disorder consisting of popliteal webs and craniofacial,
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 …
Disruption of periderm formation and/or function underlies a series of birth defects that exhibit multiple inter-epithelial adhesions includ …
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 …
The aim of this study was to present various clinical aspects and the latest discoveries with regard to genetic research in complex malforma …
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 character …
Popliteal pterygium syndrome with unusual features.
Sasidharan CK, Ravi KV. Sasidharan CK, et al. Indian J Pediatr. 2004 Mar;71(3):269-70. doi: 10.1007/BF02724282. Indian J Pediatr. 2004. PMID: 15080416 Review.
Popliteal pterygium syndrome is a well defined complex that consists of popliteal pterygium, intercrural pterygium, various digital anomalies that include hypoplasia or agenesis of digits, syndactyly, valgus or varus deformities of the feet and oral anomalies
Popliteal pterygium syndrome is a well defined complex that consists of popliteal pterygium, intercrural pterygium, var
A familial case of popliteal pterygium syndrome.
Bertelè G, Mercanti M, Gangini GN, Carletti V. Bertelè G, et al. Minerva Stomatol. 2008 Jun;57(6):309-22. Minerva Stomatol. 2008. PMID: 18617879 Review. English, Italian.
Popliteal pterygium syndrome (PPS) is a rare malformation disorder characterized by autosomal dominant inheritance, highly variable expressivity and incomplete penetrance. ...Mutations in the IRF6 gene give rise to popliteal pterygium syndrom
Popliteal pterygium syndrome (PPS) is a rare malformation disorder characterized by autosomal dominant inheritance, hig
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 "O …
Syngnathia: a report of two cases.
Valnicek SM, Clarke HM. Valnicek SM, et al. Cleft Palate Craniofac J. 1993 Nov;30(6):582-5. doi: 10.1597/1545-1569_1993_030_0582_sarotc_2.3.co_2. Cleft Palate Craniofac J. 1993. PMID: 8280738 Review.
Less than 50 cases have been described, most commonly in association with popliteal pterygium syndrome. Surgical management involves division of the adhesions in the first few days of life. ...
Less than 50 cases have been described, most commonly in association with popliteal pterygium syndrome. Surgical manage …
13 results