Borozdin W - Search Results

1

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.

Borozdin W, Boehm D, Leipoldt M, Wilhelm C, Reardon W, Clayton-Smith J, Becker K, Mühlendyck H, Winter R, Giray O, Silan F, Kohlhase J. Borozdin W, et al. J Med Genet. 2004 Sep;41(9):e113. doi: 10.1136/jmg.2004.019901. J Med Genet. 2004. PMID: 15342710 Free PMC article. No abstract available.

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. Borozdin W, et al. Hum Mutat. 2006 Feb;27(2):211-2. doi: 10.1002/humu.9396. Hum Mutat. 2006. PMID: 16429401

3

Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes.

Borozdin W, Bravo-Ferrer Acosta AM, Seemanova E, Leipoldt M, Bamshad MJ, Unger S, Kohlhase J. Borozdin W, et al. Am J Med Genet A. 2006 Sep 1;140A(17):1880-6. doi: 10.1002/ajmg.a.31340. Am J Med Genet A. 2006. PMID: 16892408 No abstract available.

4

Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay.

Borozdin W, Graham JM Jr, Böhm D, Bamshad MJ, Spranger S, Burke L, Leipoldt M, Kohlhase J. Borozdin W, et al. Hum Mutat. 2007 Aug;28(8):830. doi: 10.1002/humu.9502. Hum Mutat. 2007. PMID: 17623483

5

Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum.

Borozdin W, Wright MJ, Hennekam RC, Hannibal MC, Crow YJ, Neumann TE, Kohlhase J. Borozdin W, et al. J Med Genet. 2004 Aug;41(8):e102. doi: 10.1136/jmg.2004.019505. J Med Genet. 2004. PMID: 15286162 Free PMC article. No abstract available.

6

A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome.

Miertus J, Borozdin W, Frecer V, Tonini G, Bertok S, Amoroso A, Miertus S, Kohlhase J. Miertus J, et al. Among authors: borozdin w. Hum Genet. 2006 Mar;119(1-2):154-61. doi: 10.1007/s00439-005-0124-7. Epub 2006 Jan 3. Hum Genet. 2006. PMID: 16402211

7

Synergistic cooperation of Sall4 and Cyclin D1 in transcriptional repression.

Böhm J, Kaiser FJ, Borozdin W, Depping R, Kohlhase J. Böhm J, et al. Among authors: borozdin w. Biochem Biophys Res Commun. 2007 May 11;356(3):773-9. doi: 10.1016/j.bbrc.2007.03.050. Epub 2007 Mar 19. Biochem Biophys Res Commun. 2007. PMID: 17383611

8

Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.

Vuorela P, Ala-Mello S, Saloranta C, Penttinen M, Pöyhönen M, Huoponen K, Borozdin W, Bausch B, Botzenhart EM, Wilhelm C, Kääriäinen H, Kohlhase J. Vuorela P, et al. Among authors: borozdin w. Genet Med. 2007 Oct;9(10):690-4. doi: 10.1097/gim.0b013e318156e68e. Genet Med. 2007. PMID: 18073582 Free article.

9

Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations.

Borozdin W, Bravo Ferrer Acosta AM, Bamshad MJ, Botzenhart EM, Froster UG, Lemke J, Schinzel A, Spranger S, McGaughran J, Wand D, Chrzanowska KH, Kohlhase J. Borozdin W, et al. Hum Mutat. 2006 Sep;27(9):975-6. doi: 10.1002/humu.9449. Hum Mutat. 2006. PMID: 16917909

10

Sall1, sall2, and sall4 are required for neural tube closure in mice.

Böhm J, Buck A, Borozdin W, Mannan AU, Matysiak-Scholze U, Adham I, Schulz-Schaeffer W, Floss T, Wurst W, Kohlhase J, Barrionuevo F. Böhm J, et al. Among authors: borozdin w. Am J Pathol. 2008 Nov;173(5):1455-63. doi: 10.2353/ajpath.2008.071039. Epub 2008 Sep 25. Am J Pathol. 2008. PMID: 18818376 Free PMC article.

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