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Quoted phrase not found in phrase index: "Cranioectodermal dysplasia 1"
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Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35.
Walczak-Sztulpa J, Wawrocka A, Leszczynska B, Mikulska B, Arts HH, Bukowska-Olech E, Daniel M, Krawczynski MR, Latos-Bielenska A, Obersztyn E. Walczak-Sztulpa J, et al. Am J Med Genet A. 2020 Oct;182(10):2417-2425. doi: 10.1002/ajmg.a.61785. Epub 2020 Aug 17. Am J Med Genet A. 2020. PMID: 32804427
Cilia are organelles that project from the surface of many cell types and play an important role during prenatal and postnatal human development. Cranioectodermal dysplasia (Sensenbrenner syndrome, CED) is a ciliopathy primarily characterized by craniofacial, skelet …
Cilia are organelles that project from the surface of many cell types and play an important role during prenatal and postnatal human develop …
Identification of five novel genetic loci related to facial morphology by genome-wide association studies.
Cha S, Lim JE, Park AY, Do JH, Lee SW, Shin C, Cho NH, Kang JO, Nam JM, Kim JS, Woo KM, Lee SH, Kim JY, Oh B. Cha S, et al. BMC Genomics. 2018 Jun 19;19(1):481. doi: 10.1186/s12864-018-4865-9. BMC Genomics. 2018. PMID: 29921221 Free PMC article.
The OSR1-WDR35 [rs7567283, G allele, beta (se) = -0.536 (0.096), P = 2.75 10(- 8)] locus was associated with the facial frontal contour; the HOXD1-MTX2 [rs970797, A allele, beta (se) = 0.015 (0.003), P = 3.97 10(- 9)] and WDR27 [rs3736712, C allele, beta (se) = 0.293 (0.048), P = …
The OSR1-WDR35 [rs7567283, G allele, beta (se) = -0.536 (0.096), P = 2.75 10(- 8)] locus was associated with the facial frontal contour; the …
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium; Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F. Halbritter J, et al. Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17. Am J Hum Genet. 2013. PMID: 24140113 Free PMC article.
To identify additional IFT-B components defective in ciliopathies, we independently performed different mutation analyses: candidate-based sequencing of all IFT-B-encoding genes in 1,467 individuals with a nephronophthisis-related ciliopathy or whole-exome resequencing in …
To identify additional IFT-B components defective in ciliopathies, we independently performed different mutation analyses: candidate-based s …