Similar articles for PMID: 15286162

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1

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.

2

SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.

Kohlhase J, Chitayat D, Kotzot D, Ceylaner S, Froster UG, Fuchs S, Montgomery T, Rösler B. Kohlhase J, et al. Hum Mutat. 2005 Sep;26(3):176-83. doi: 10.1002/humu.20215. Hum Mutat. 2005. PMID: 16086360

3

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.

4

Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.

Kohlhase J, Schubert L, Liebers M, Rauch A, Becker K, Mohammed SN, Newbury-Ecob R, Reardon W. Kohlhase J, et al. J Med Genet. 2003 Jul;40(7):473-8. doi: 10.1136/jmg.40.7.473. J Med Genet. 2003. PMID: 12843316 Free PMC article.

5

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

6

Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families.

Becker K, Beales PL, Calver DM, Matthijs G, Mohammed SN. Becker K, et al. J Med Genet. 2002 Jan;39(1):68-71. doi: 10.1136/jmg.39.1.68. J Med Genet. 2002. PMID: 11826030 Free PMC article. No abstract available.

7

Analysis of the SALL4 gene in patients with Duane retraction syndrome in a South Indian population.

Arya LK, Kumar AB, Shetty S, Perumalsamy V, Sundaresan P. Arya LK, et al. Ophthalmic Genet. 2011 Sep;32(3):156-7. doi: 10.3109/13816810.2011.559652. Epub 2011 Mar 15. Ophthalmic Genet. 2011. PMID: 21405998

8

Okihiro syndrome is caused by SALL4 mutations.

Kohlhase J, Heinrich M, Schubert L, Liebers M, Kispert A, Laccone F, Turnpenny P, Winter RM, Reardon W. Kohlhase J, et al. Hum Mol Genet. 2002 Nov 1;11(23):2979-87. doi: 10.1093/hmg/11.23.2979. Hum Mol Genet. 2002. PMID: 12393809

9

[Clinical and molecular genetic findings in isolated sporadic Duane syndrome].

Wabbels BK, Kohlhase J, Lorenz B. Wabbels BK, et al. Klin Monbl Augenheilkd. 2004 Oct;221(10):849-53. doi: 10.1055/s-2004-813662. Klin Monbl Augenheilkd. 2004. PMID: 15499520 Clinical Trial. German.

10

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. 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

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