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7. Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III). Weaver DD; Norby AR; Rosenfeld JA; Proud VK; Spangler BE; Ming JE; Chisholm E; Zackai EH; Lee BH; Edelmann L; Desnick RJ Am J Med Genet A; 2015 May; 167A(5):1061-70. PubMed ID: 25728400 [TBL] [Abstract][Full Text] [Related]
8. Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance. Lee BH; Kasparis C; Chen B; Mei H; Edelmann L; Moss C; Weaver DD; Desnick RJ J Hum Genet; 2015 Nov; 60(11):717-22. PubMed ID: 26311541 [TBL] [Abstract][Full Text] [Related]
9. Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells. Crespo NE; Torres-Bracero A; Renta JY; Desnick RJ; Cadilla CL Int J Environ Res Public Health; 2021 Feb; 18(4):. PubMed ID: 33669496 [No Abstract] [Full Text] [Related]
10. Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. Marchegiani S; Davis T; Tessadori F; van Haaften G; Brancati F; Hoischen A; Huang H; Valkanas E; Pusey B; Schanze D; Venselaar H; Vulto-van Silfhout AT; Wolfe LA; Tifft CJ; Zerfas PM; Zambruno G; Kariminejad A; Sabbagh-Kermani F; Lee J; Tsokos MG; Lee CC; Ferraz V; da Silva EM; Stevens CA; Roche N; Bartsch O; Farndon P; Bermejo-Sanchez E; Brooks BP; Maduro V; Dallapiccola B; Ramos FJ; Chung HY; Le Caignec C; Martins F; Jacyk WK; Mazzanti L; Brunner HG; Bakkers J; Lin S; Malicdan MC; Boerkoel CF; Gahl WA; de Vries BB; van Haelst MM; Zenker M; Markello TC Am J Hum Genet; 2015 Jul; 97(1):99-110. PubMed ID: 26119818 [TBL] [Abstract][Full Text] [Related]
11. Focal facial dermal dysplasias type III: Two families with Setleis syndrome in China. Cao Q; Zhang S; Wang J; Wang Y; Pan C; Wang X; Zhao A; Chen X; Qin P; Zhang S; Yao Z; Lv D; Yang Y; Li M J Dermatol; 2022 Oct; 49(10):1057-1061. PubMed ID: 35713327 [TBL] [Abstract][Full Text] [Related]
12. Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans. Kim S; Twigg SRF; Scanlon VA; Chandra A; Hansen TJ; Alsubait A; Fenwick AL; McGowan SJ; Lord H; Lester T; Sweeney E; Weber A; Cox H; Wilkie AOM; Golden A; Corsi AK Hum Mol Genet; 2017 Jun; 26(11):2118-2132. PubMed ID: 28369379 [TBL] [Abstract][Full Text] [Related]
13. The TWIST2 mutation causes Setleis syndrome: a rare clinical case report. Ayaz A; Yalcintepe S; Ozalp Yuregir O; Sahin Y; Ozer A; Eser M; Celik U Clin Dysmorphol; 2017 Apr; 26(2):128-131. PubMed ID: 27750268 [No Abstract] [Full Text] [Related]
14. The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity. Lee BH; Aggarwal A; Slavotinek A; Edelmann L; Chen B; Desnick RJ J Med Genet; 2017 Sep; 54(9):585-590. PubMed ID: 28663233 [TBL] [Abstract][Full Text] [Related]
15. De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III). Oh RY; Chun K; Kowalski PE; Chitayat D Am J Med Genet A; 2023 Jun; 191(6):1607-1613. PubMed ID: 36942595 [TBL] [Abstract][Full Text] [Related]
16. Biological function and molecular mechanism of Twist2. Zhao CX; Yang Z Yi Chuan; 2015 Jan; 37(1):17-24. PubMed ID: 25608809 [TBL] [Abstract][Full Text] [Related]
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18. Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome). Graul-Neumann LM; Stieler KM; Blume-Peytavi U; Tzschach A Am J Med Genet A; 2009 Feb; 149A(4):746-50. PubMed ID: 19291768 [TBL] [Abstract][Full Text] [Related]
19. Twist1- and Twist2-haploinsufficiency results in reduced bone formation. Huang Y; Meng T; Wang S; Zhang H; Mues G; Qin C; Feng JQ; D'Souza RN; Lu Y PLoS One; 2014; 9(6):e99331. PubMed ID: 24971743 [TBL] [Abstract][Full Text] [Related]
20. Twist2 amplification in rhabdomyosarcoma represses myogenesis and promotes oncogenesis by redirecting MyoD DNA binding. Li S; Chen K; Zhang Y; Barnes SD; Jaichander P; Zheng Y; Hassan M; Malladi VS; Skapek SX; Xu L; Bassel-Duby R; Olson EN; Liu N Genes Dev; 2019 Jun; 33(11-12):626-640. PubMed ID: 30975722 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]