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Items: 1 to 20 of 109

1.

Endocrine abnormalities in Townes-Brocks syndrome.

Lawrence C, Hong-McAtee I, Hall B, Hartsfield J, Rutherford A, Bonilla T, Bay C.

Am J Med Genet A. 2013 Sep;161A(9):2266-73. doi: 10.1002/ajmg.a.36104. Epub 2013 Jul 25.

2.

Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.

Marlin S, Blanchard S, Slim R, Lacombe D, Denoyelle F, Alessandri JL, Calzolari E, Drouin-Garraud V, Ferraz FG, Fourmaintraux A, Philip N, Toublanc JE, Petit C.

Hum Mutat. 1999;14(5):377-86.

PMID:
10533063
3.

Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature.

Liang Y, Shen D, Cai W.

J Pediatr Surg. 2008 Feb;43(2):391-3. doi: 10.1016/j.jpedsurg.2007.09.079. Review.

PMID:
18280297
4.

Deletion upstream of SALL1 producing Townes-Brocks syndrome.

Stevens CA, May KM.

Am J Med Genet A. 2016 Sep;170(9):2476-8. doi: 10.1002/ajmg.a.37786. Epub 2016 Jun 8. No abstract available.

PMID:
27277004
5.

Townes-Brocks syndrome.

Powell CM, Michaelis RC.

J Med Genet. 1999 Feb;36(2):89-93. Review.

6.

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.

Am J Med Genet A. 2012 Mar;158A(3):533-40. doi: 10.1002/ajmg.a.34426. Epub 2012 Feb 3. Review.

PMID:
22308078
7.

Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome.

Blanck C, Kohlhase J, Engels S, Burfeind P, Engel W, Bottani A, Patel MS, Kroes HY, Cobben JM.

J Med Genet. 2000 Apr;37(4):303-7. No abstract available.

8.

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.

Am J Med Genet A. 2006 Sep 15;140(18):1904-8.

PMID:
16892410
9.

Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation.

Liberalesso PBN, Cordeiro ML, Karuta SCV, Koladicz KRJ, Nitsche A, Zeigelboim BS, Raskin S, Rauchman M.

BMC Med Genet. 2017 Nov 6;18(1):125. doi: 10.1186/s12881-017-0483-7.

10.

Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.

Kohlhase J, Taschner PE, Burfeind P, Pasche B, Newman B, Blanck C, Breuning MH, ten Kate LP, Maaswinkel-Mooy P, Mitulla B, Seidel J, Kirkpatrick SJ, Pauli RM, Wargowski DS, Devriendt K, Proesmans W, Gabrielli O, Coppa GV, Wesby-van Swaay E, Trembath RC, Schinzel AA, Reardon W, Seemanova E, Engel W.

Am J Hum Genet. 1999 Feb;64(2):435-45.

11.

A new family with the Townes-Brocks syndrome.

de Vries-Van der Weerd MA, Willems PJ, Mandema HM, ten Kate LP.

Clin Genet. 1988 Sep;34(3):195-200.

PMID:
3180506
12.
13.

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.

BMC Med Genet. 2009 Dec 16;10:137. doi: 10.1186/1471-2350-10-137.

14.

A mouse model of Townes-Brocks syndrome expressing a truncated mutant Sall1 protein is protected from acute kidney injury.

Hirsch S, El-Achkar T, Robbins L, Basta J, Heitmeier M, Nishinakamura R, Rauchman M.

Am J Physiol Renal Physiol. 2015 Nov 15;309(10):F852-63. doi: 10.1152/ajprenal.00222.2015. Epub 2015 Aug 26.

15.

Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene.

Salerno A, Kohlhase J, Kaplan BS.

Pediatr Nephrol. 2000 Jan;14(1):25-8.

PMID:
10654325
16.

[Hearing loss in Townes-Brocks syndrome].

Rodríguez Asensio J, Rodríguez Rosell MV, Ramos Pérez A.

Acta Otorrinolaringol Esp. 2003 Aug-Sep;54(7):518-22. Spanish.

17.

The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome).

Barry JS, Reddy MA.

Ophthalmic Genet. 2008 Dec;29(4):177-80. doi: 10.1080/13816810802354224.

PMID:
19005989
18.

Phenotypic variability in Townes-Brocks syndrome.

Monteiro de Pina-Neto J.

Am J Med Genet. 1984 May;18(1):147-52.

PMID:
6741990
19.

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.

Hum Mutat. 2007 Feb;28(2):204-5.

PMID:
17221874
20.

Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects.

Surka WS, Kohlhase J, Neunert CE, Schneider DS, Proud VK.

Am J Med Genet. 2001 Aug 15;102(3):250-7.

PMID:
11484202

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