Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome
Kohlhase, Jürgen, Taschner, Peter E.M., Burfeind, Peter, Pasche, Bastian, Newman, Bill, Blanck, Christopher, Breuning, Martijn H., ten Kate, Leo P. +16 more·1999·The American Journal of Human Genetics
DOI 10.1086/302238
Cited by (114)
Items 101–114 of 114
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- Novel mutation in the SALL1 gene in a four-generation Chinese family with uraemia: A case reportJiaxiang Fang, Jin-Shi Zhang, Min-min Wang, Lin Liu · 2022 · World Journal of Clinical Cases
- Etiology and genes.T. Matsunaga · 2014 · Advances in Oto-Rhino-Laryngology
- Expanded spectrum of oculo–auriculo–vertebral spectrum with imperforate anus in a male patient who is negative for SALL1 mutationsA. Slavotinek, K. Vargervik · 2011 · Clinical Dysmorphology
- Tetramerisation governs SALL transcription factor function in development and diseaseGiuliani, Sara, Chhatbar, Kashyap, Wear, Martin, Guy, Jacky, Mathieson, Tricia, Burdett, Hayden, George, Lisa, Alston, Grace, Spanos, Christos, McHugh, Toni et al. · 2025 · bioRxiv
- Townes-Brocks Syndrome as Familial Isolated Bilateral Cup Ear Deformity: A Case ReportYanbin Chang, Li-Shuo Yang, Zihan Zhang, Huayu Zhang, Feng Xue · 2026 · Clinical, Cosmetic and Investigational Dermatology
- A function of Spalt proteins in heterochromatin organization and maintenance of genomic DNA integrityCristina M. Ostalé, Natalia Azpiazu, A. Peropadre, Mercedes Martín, Mireya Ruiz-Losada, Ana López-Varea, R. R. Viales, C. Girardot, E. Furlong, J. D. de Celis · 2024 · bioRxiv
- Townes–Brocks syndrome with adult renal impairment in a Chinese family: A case reportJing Wu, J. Zhang, Ta Xiao, Ting He · 2023 · World Journal of Clinical Cases
- Townes-Brocks Syndrome in Barranquilla, Colombia: Case report and state of the artVanessa Sabella-Jiménez, Carlos Otero-Herrera, Rafael Tovar Berardinelli, Gloria Rolón Martínez, C. Silvera-Redondo, Pilar Garavito-Galofre · 2020 · Salud Uninorte
- On-Top Index Pollicization After a Partial Amputation of a Syndactylized Hypoplastic Thumb in a Patient With Townes-Brocks Syndrome.M. Lorencin, K. Bulić · 2017 · Annals of Plastic Surgery
- Variable expression observed in a Korean family with Townes-Brocks syndrome caused by a SALL1 mutationY. Seo, K. Lee, Min-Ko Jung, Gu-Hwan Kim, H. Yoo · 2015
- Avaliação genética-clínica e audiológica de indivíduos com anomalias de 1º e 2º arcos branquiais associadas à anomalia radialSiulan Vendramini · 2006
- Gastrointestinal Tract and Hepatobiliary Duct SystemE. Passarge · 2020 · Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics
- Renal DysgenesisFangming Lin, Vishal Patel, Peter Igarashi · 2009 · Elsevier eBooks