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Items: 1 to 20 of 225

1.

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.

Am J Med Genet A. 2007 May 15;143A(10):1087-90.

PMID:
17431915
2.

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
3.

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.

4.

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
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
6.

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
7.

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
8.

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
9.

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
10.

Two cases of Townes-Brocks syndrome.

Doray B, Langer B, Stoll C.

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

PMID:
10631923
11.

SALL1 mutations in Townes-Brocks syndrome and related disorders.

Kohlhase J.

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

PMID:
11102974
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.

Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia.

Thiel CT, Rosanowski F, Kohlhase J, Reis A, Rauch A.

Clin Dysmorphol. 2005 Apr;14(2):67-71.

PMID:
15770127
14.

Townes-Brocks syndrome.

Powell CM, Michaelis RC.

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

15.

Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum.

Johnson JP, Poskanzer LS, Sherman S.

Am J Med Genet. 1996 Jan 11;61(2):134-9.

PMID:
8669439
16.

Description of a patient with difficult nosological classification: Goldenhar syndrome or Townes-Brocks syndrome?

Gabrielli O, Bonifazi V, Offidani AM, Cellini A, Coppa GV, Giorgi PL.

Minerva Pediatr. 1993 Nov;45(11):459-62.

PMID:
8133838
17.
18.

Goldenhar syndrome (oculoauriculovertebral dysplasia): report of one case.

Ng YY, Hu JM, Su PH, Chen JY, Yang MS, Chen SJ.

Acta Paediatr Taiwan. 2006 May-Jun;47(3):142-5.

PMID:
17078468
19.

Phenotypic variability in a family with Townes-Brocks syndrome.

Sudo Y, Numakura C, Abe A, Aiba S, Matsunaga A, Hayasaka K.

J Hum Genet. 2010 Aug;55(8):550-1. doi: 10.1038/jhg.2010.64. Epub 2010 Jun 3.

PMID:
20520617
20.

Thrombophilia gene mutations in oculoauriculovertebral spectrum.

Tug E, Atasoy HI, Koybasi Sanal S.

Genet Couns. 2012;23(1):65-72.

PMID:
22611644

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