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Items: 1 to 20 of 105

1.

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
2.

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.

3.

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
4.

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
5.

SALL1 mutations in Townes-Brocks syndrome and related disorders.

Kohlhase J.

Hum Mutat. 2000 Dec;16(6):460-6. Review.

PMID:
11102974
6.
7.

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
8.

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.

Borozdin W, Steinmann K, Albrecht B, Bottani A, Devriendt K, Leipoldt M, Kohlhase J.

Hum Mutat. 2006 Feb;27(2):211-2.

PMID:
16429401
9.

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
10.

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
11.

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.

Hum Mutat. 2005 Sep;26(3):282.

PMID:
16088922
12.

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
13.

Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.

Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W.

Nat Genet. 1998 Jan;18(1):81-3.

PMID:
9425907
14.

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.

15.

Townes-Brocks syndrome.

Powell CM, Michaelis RC.

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

16.

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
17.

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.

18.

Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects.

Kiefer SM, Ohlemiller KK, Yang J, McDill BW, Kohlhase J, Rauchman M.

Hum Mol Genet. 2003 Sep 1;12(17):2221-7. Epub 2003 Jul 15.

PMID:
12915476
19.

Two cases of Townes-Brocks syndrome.

Doray B, Langer B, Stoll C.

Genet Couns. 1999;10(4):359-67.

PMID:
10631923
20.

Phenotypic variability in Townes-Brocks syndrome.

Monteiro de Pina-Neto J.

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

PMID:
6741990

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