PubMed (Bookshelf cited) for id: 1635275

Year	Number of Results
1972	1
1978	1
1984	1
1993	1
1996	1
1998	1
1999	4
2000	5
2001	4
2002	3
2003	3
2004	4
2005	2
2006	6
2007	2
2009	2
2010	1
2012	2
2013	2
2014	1
2024	0

1

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

Hwang DY, Dworschak GC, Kohl S, Saisawat P, Vivante A, Hilger AC, Reutter HM, Soliman NA, Bogdanovic R, Kehinde EO, Tasic V, Hildebrandt F. Hwang DY, et al. Kidney Int. 2014 Jun;85(6):1429-33. doi: 10.1038/ki.2013.508. Epub 2014 Jan 15. Kidney Int. 2014. PMID: 24429398 Free PMC article.

2

Endocrine abnormalities in Townes-Brocks syndrome.

Lawrence C, Hong-McAtee I, Hall B, Hartsfield J, Rutherford A, Bonilla T, Bay C. Lawrence C, et al. Am J Med Genet A. 2013 Sep;161A(9):2266-73. doi: 10.1002/ajmg.a.36104. Epub 2013 Jul 25. Am J Med Genet A. 2013. PMID: 23894113 Free PMC article.

3

Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome.

Vodopiutz J, Zoller H, Fenwick AL, Arnhold R, Schmid M, Prayer D, Müller T, Repa A, Pollak A, Aufricht C, Wilkie AO, Janecke AR. Vodopiutz J, et al. J Pediatr. 2013 Mar;162(3):612-7. doi: 10.1016/j.jpeds.2012.08.042. Epub 2012 Oct 12. J Pediatr. 2013. PMID: 23069192 Free PMC article.

4

Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature.

Miller EM, Hopkin R, Bao L, Ware SM. Miller EM, et al. Am J Med Genet A. 2012 Mar;158A(3):533-40. doi: 10.1002/ajmg.a.34426. Epub 2012 Feb 3. Am J Med Genet A. 2012. PMID: 22308078 Review.

5

A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene.

Choi WI, Kim JH, Yoo HW, Oh SH. Choi WI, et al. Korean J Pediatr. 2010 Dec;53(12):1018-21. doi: 10.3345/kjp.2010.53.12.1018. Epub 2010 Dec 31. Korean J Pediatr. 2010. PMID: 21253317 Free PMC article.

6

Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes.

Bardakjian TM, Schneider AS, Ng D, Johnston JJ, Biesecker LG. Bardakjian TM, et al. BMC Med Genet. 2009 Dec 16;10:137. doi: 10.1186/1471-2350-10-137. BMC Med Genet. 2009. PMID: 20003547 Free PMC article.

7

Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly.

van den Akker PC, van de Graaf R, Dooijes D, van Essen AJ. van den Akker PC, et al. Am J Med Genet A. 2009 Feb 15;149A(4):812-5. doi: 10.1002/ajmg.a.32738. Am J Med Genet A. 2009. PMID: 19291771 No abstract available.

8

Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon?

Reardon W, Casserly LF, Birkenhäger R, Kohlhase J. Reardon W, et al. Am J Med Genet A. 2007 Nov 1;143A(21):2588-91. doi: 10.1002/ajmg.a.31699. Am J Med Genet A. 2007. PMID: 17910067

9

Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.

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. Botzenhart EM, et al. Hum Mutat. 2007 Feb;28(2):204-5. doi: 10.1002/humu.9476. Hum Mutat. 2007. PMID: 17221874

10

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

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