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Items: 10

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.

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
3.

SALL1 mutations in Townes-Brocks syndrome and related disorders.

Kohlhase J.

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

PMID:
11102974
4.
5.

Townes-Brocks syndrome.

Powell CM, Michaelis RC.

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

6.

Townes-Brocks syndrome. Report of a case and review of the literature.

Ferraz FG, Nunes L, Ferraz ME, Sousa JP, Santos M, Carvalho C, Maroteaux P.

Ann Genet. 1989;32(2):120-3. Review.

PMID:
2667456
7.

[Anus-hand-ear syndrome (Townes-Brocks syndrome)].

Kurosawa K.

Ryoikibetsu Shokogun Shirizu. 2001;(33):211-2. Review. Japanese. No abstract available.

PMID:
11462405
8.

The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.

Torgyekes E, Shanske AL, Anyane-Yeboa K, Nahum O, Pirzadeh S, Blumfield E, Jobanputra V, Warburton D, Levy B.

Am J Med Genet A. 2011 Aug;155A(8):1884-96. doi: 10.1002/ajmg.a.34090. Epub 2011 Jul 8. Review.

PMID:
21744488
9.

[Townes-Brocks syndrome].

Ishikiriyama S.

Ryoikibetsu Shokogun Shirizu. 1996;(15):305-6. Review. Japanese. No abstract available.

PMID:
9048024
10.

Mutations in the human UBR1 gene and the associated phenotypic spectrum.

Sukalo M, Fiedler A, Guzmán C, Spranger S, Addor MC, McHeik JN, Oltra Benavent M, Cobben JM, Gillis LA, Shealy AG, Deshpande C, Bozorgmehr B, Everman DB, Stattin EL, Liebelt J, Keller KM, Bertola DR, van Karnebeek CD, Bergmann C, Liu Z, Düker G, Rezaei N, Alkuraya FS, Oğur G, Alrajoudi A, Venegas-Vega CA, Verbeek NE, Richmond EJ, Kirbiyik O, Ranganath P, Singh A, Godbole K, Ali FA, Alves C, Mayerle J, Lerch MM, Witt H, Zenker M.

Hum Mutat. 2014 May;35(5):521-31. doi: 10.1002/humu.22538. Epub 2014 Apr 9. Review.

PMID:
24599544

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