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Results: 1 to 20 of 162

1.

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
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
4.

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.

PMID:
9973281
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood.

Faguer S, Pillet A, Chassaing N, Merhenberger M, Bernadet-Monrozies P, Guitard J, Chauveau D.

Nephrol Dial Transplant. 2009 Apr;24(4):1341-5. doi: 10.1093/ndt/gfp014. Epub 2009 Feb 9.

PMID:
19204018
[PubMed - indexed for MEDLINE]
Free Article
8.

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
[PubMed - indexed for MEDLINE]
9.

Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene.

Keegan CE, Mulliken JB, Wu BL, Korf BR.

Genet Med. 2001 Jul-Aug;3(4):310-3. Review.

PMID:
11478532
[PubMed - indexed for MEDLINE]
10.

Two cases of Townes-Brocks syndrome.

Doray B, Langer B, Stoll C.

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

PMID:
10631923
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

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.

PMID:
20003547
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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.

PMID:
10819639
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Townes-Brocks syndrome.

Powell CM, Michaelis RC.

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

PMID:
10051003
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

SALL1 mutations in Townes-Brocks syndrome and related disorders.

Kohlhase J.

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

PMID:
11102974
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]
Free Article
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