| 1 | CCP110, CEP97, SALL1, TBS
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| Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome.
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| Bozal-Basterra L, Martín-Ruíz I, Pirone L, Liang Y, Sigurđsson JO, Gonzalez-Santamarta M, Giordano I, Gabicagogeascoa E, de Luca A, Rodríguez JA, Wilkie AOM, Kohlhase J, Eastwood D, Yale C, Olsen JV, Rauchman M, Anderson KV, Sutherland JD, Barrio R.
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| Am J Hum Genet 102(2):249-265. doi: 10.1016/j.ajhg.2017.12.017. 2018
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| 2 | SALL1, TBS
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| Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation.
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| Liberalesso PBN, Cordeiro ML, Karuta SCV, Koladicz KRJ, Nitsche A, Zeigelboim BS, Raskin S, Rauchman M.
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| BMC Med Genet 18(1):125. doi: 10.1186/s12881-017-0483-7.
2017
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| 3 | SALL1, TBS
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| A mouse model of Townes-Brocks syndrome expressing a truncated mutant Sall1 protein is protected from acute kidney injury.
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| Hirsch S, El-Achkar T, Robbins L, Basta J, Heitmeier M, Nishinakamura R, Rauchman M.
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| Am J Physiol Renal Physiol 309(10):F852-63. doi: 10.1152/ajprenal.00222.2015. Epub 2015 Aug 26.
2015
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| 4 | SALL1, TBS
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| Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome.
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| Vodopiutz J, Zoller H, Fenwick AL, Arnhold R, Schmid M, Prayer D, Müller T, Repa A, Pollak A, Aufricht C, Wilkie AO, Janecke AR.
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| J Pediatr 162(3):612-7. doi: 10.1016/j.jpeds.2012.08.042. Epub 2012 Oct 12.
2013
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| 5 | SALL1, TBS
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| Sall1 regulates cortical neurogenesis and laminar fate specification in mice: implications for neural abnormalities in Townes-Brocks syndrome.
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| Harrison SJ, Nishinakamura R, Jones KR, Monaghan AP.
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| Dis Model Mech 5(3):351-65. doi: 10.1242/dmm.002873. Epub 2011 Dec 22.
2012
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| 6 | SALL1, TBS
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| Phenotypic variability in a family with Townes-Brocks syndrome.
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| Sudo Y, Numakura C, Abe A, Aiba S, Matsunaga A, Hayasaka K.
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| J Hum Genet 55(8):550-1. Epub 2010 Jun 3.PMID: 20520617 2010
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| 7 | SALL1, TBS
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| Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly.
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| van den Akker PC, van de Graaf R, Dooijes D, van Essen AJ.
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| Am J Med Genet A 149A(4):812-5. No abstract available. PMID: 19291771 2009
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| 8 | SALL1, TBS
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| Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.
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| Botzenhart EM, Bartalini G, Blair E, Brady AF, Elmslie F, Chong KL, Christy K, Torres-Martinez W, Danesino C, Deardorff MA, Fryns JP, Marlin S, Garcia-Minaur S, Hellenbroich Y, Hay BN, Penttinen M, Shashi V, Terhal P, Van Maldergem L, Whiteford ML, Zackai E, Kohlhase J.
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| Hum Mutat 28(2):204-5. 2007
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| 9 | SALL1,TBS
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| Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome.
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| Kosaki R, Fujimaru R, Samejima H, Yamada H, Izumi K, Iijima K, Kosaki K.
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| Am J Med Genet A 143(10):1087-90. 2007
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| 10 | CHARGE, CHD7, DEL22Q11, FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCJ, MYCN, ODED1, SALL1, TBS, TBX1, VACTERLH
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| Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology.
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| Shaw-Smith C.
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| J Med Genet 43(7):545-54. Epub 2005 Nov 18. Review. 2006
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| 11 | TBS, SALL1
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| SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect.
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| Bohm J, Munk-Schulenburg S, Felscher S, Kohlhase J.
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| Am J Med Genet A 140(18):1904-8. 2006
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| 12 | DEL16QO, SALL1, TBS
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| Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome.
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| Borozdin W, Steinmann K, Albrecht B, Bottani A, Devriendt K, Leipoldt M, Kohlhase J.
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| Hum Mutat 27(2):211-2. 2006
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| 13 | SALL1, TBS
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| Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin.
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| Sato A, Kishida S, Tanaka T, Kikuchi A, Kodama T, Asashima M, Nishinakamura R.
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| Biochem Biophys Res Commun 319(1):103-13. 2004
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| 14 | SALL1, TBS
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| Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects.
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| Kiefer SM, Ohlemiller KK, Yang J, McDill BW, Kohlhase J, Rauchman M.
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| Hum Mol Genet 12(17):2221-7. Epub 2003 Jul 15. 2003
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| 15 | SALL1, TBS
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| Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects.
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| Surka WS, Kohlhase J, Neunert CE, Schneider DS, Proud VK.
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| Am J Med Genet 102(3):250-7. 2001
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| 16 | SALL1, TBS
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| Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome.
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| Blanck C, Kohlhase J, Engels S, Burfeind P, Engel W, Bottani A, Patel MS, Kroes HY, Cobben JM.
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| J Med Genet 37(4):303-7. No abstract available. 2000
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| 17 | TBS
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| A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype.
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| Engels S, Kohlhase J, McGaughran J.
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| J Med Genet 37(6):458-60. No abstract available. 2000
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| 18 | SALL1, TBS
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| Clinical and molecular cytogenetic studies of a large de novo interstitial deletion 16q11.2-16q21 including the putative transcription factor gene SALL1.
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| Knoblauch H, Thiel G, Tinschert S, Korner H, Tennstedt C, Chaoui R, Kohlhase J, Dixkens C, Blanck C.
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| J Med Genet 37(5):389-92. No abstract available. 2000
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| 19 | SALL1, TBS
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| SALL1 mutations in townes-brocks syndrome and related disorders.
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| Kohlhase J.
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| Hum Mutat 16(6):460-6. 2000
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| 20 | TBS
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| Townes-Brocks syndrome.
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| Powell CM, Michaelis RC.
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| J Med Genet 36 : 89-93. 1999
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| 21 | SALL1, TBS
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| Molecular analysis of SALL1 mutations in townes-brocks syndrome.
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| Kohlhase J, et al.
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| Am J Hum Genet 64(2):435-45. 1999
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| 22 | SALL1, TBS
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| Townes-Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.
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| Marlin S, et al.
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| Hum Mutat 14(5):377-386 1999
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| 23 | SALL1, TBS
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| Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.
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| Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W.
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| Nat Genet 18(1):81-3. 1998
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