PubMed (OMIM) for id: 6299

Year	Number of Results
1972	2
1976	1
1977	1
1978	1
1982	1
1984	1
1988	1
1989	1
1990	1
1991	1
1993	2
1996	3
1997	1
1998	1
1999	4
2000	3
2001	4
2003	2
2004	1
2005	1
2006	2
2007	2
2008	1
2010	1
2017	1
2018	1
2024	0

1

Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome.

Bozal-Basterra L, Martín-Ruíz I, Pirone L, Liang Y, Sigurðsson 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. Bozal-Basterra L, et al. Am J Hum Genet. 2018 Feb 1;102(2):249-265. doi: 10.1016/j.ajhg.2017.12.017. Am J Hum Genet. 2018. PMID: 29395072 Free PMC article.

2

Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.

Webb BD, Metikala S, Wheeler PG, Sherpa MD, Houten SM, Horb ME, Schadt EE. Webb BD, et al. Hum Mutat. 2017 Apr;38(4):373-377. doi: 10.1002/humu.23171. Epub 2017 Feb 2. Hum Mutat. 2017. PMID: 28054444 Free PMC article.

3

Phenotypic variability in a family with Townes-Brocks syndrome.

Sudo Y, Numakura C, Abe A, Aiba S, Matsunaga A, Hayasaka K. Sudo Y, et al. J Hum Genet. 2010 Aug;55(8):550-1. doi: 10.1038/jhg.2010.64. Epub 2010 Jun 3. J Hum Genet. 2010. PMID: 20520617

4

SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes.

Kiefer SM, Robbins L, Barina A, Zhang Z, Rauchman M. Kiefer SM, et al. Hum Mutat. 2008 Sep;29(9):1133-40. doi: 10.1002/humu.20759. Hum Mutat. 2008. PMID: 18470945

5

Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.

Furniss D, Critchley P, Giele H, Wilkie AO. Furniss D, et al. Am J Med Genet A. 2007 Dec 15;143A(24):3150-60. doi: 10.1002/ajmg.a.32097. Am J Med Genet A. 2007. PMID: 18000979

6

Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome.

Kosaki R, Fujimaru R, Samejima H, Yamada H, Izumi K, Iijima K, Kosaki K. Kosaki R, et al. Am J Med Genet A. 2007 May 15;143A(10):1087-90. doi: 10.1002/ajmg.a.31700. Am J Med Genet A. 2007. PMID: 17431915

7

SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect.

Böhm J, Munk-Schulenburg S, Felscher S, Kohlhase J. Böhm J, et al. Am J Med Genet A. 2006 Sep 15;140(18):1904-8. doi: 10.1002/ajmg.a.31383. Am J Med Genet A. 2006. PMID: 16892410

8

Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development.

Chai L, Yang J, Di C, Cui W, Kawakami K, Lai R, Ma Y. Chai L, et al. J Biol Chem. 2006 Jul 14;281(28):18918-26. doi: 10.1074/jbc.M600180200. Epub 2006 May 2. J Biol Chem. 2006. PMID: 16670092 Free article.

9

SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.

Botzenhart EM, Green A, Ilyina H, König R, Lowry RB, Lo IF, Shohat M, Burke L, McGaughran J, Chafai R, Pierquin G, Michaelis RC, Whiteford ML, Simola KO, Rösler B, Kohlhase J. Botzenhart EM, et al. Hum Mutat. 2005 Sep;26(3):282. doi: 10.1002/humu.9362. Hum Mutat. 2005. PMID: 16088922

10

Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation.

Albrecht B, Liebers M, Kohlhase J. Albrecht B, et al. Am J Med Genet A. 2004 Feb 15;125A(1):102-4. doi: 10.1002/ajmg.a.20484. Am J Med Genet A. 2004. PMID: 14755477 No abstract available.

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