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Items: 1 to 20 of 242

1.
3.

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.

Hum Mutat. 2005 Sep;26(3):176-83.

PMID:
16086360
4.

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.

Hum Mol Genet. 2002 Nov 1;11(23):2979-87.

PMID:
12393809
5.

The Okihiro syndrome of Duane anomaly, radial ray abnormalities, and deafness.

Hayes A, Costa T, Polomeno RC.

Am J Med Genet. 1985 Oct;22(2):273-80.

PMID:
4050857
6.

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.

Hum Mutat. 2007 Aug;28(8):830.

PMID:
17623483
7.

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.

J Med Genet. 2004 Aug;41(8):e102. No abstract available.

8.

A family with Duane anomaly and distal limb abnormalities: a further family with the arthrogryposis-ophthalmoplegia syndrome.

McCann E, Fryer AE, Newman W, Appleton RE, Kohlhase J.

Am J Med Genet A. 2005 Dec 1;139A(2):123-6.

PMID:
16278891
9.

IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus.

Paradisi I, Arias S.

Am J Med Genet A. 2007 Feb 15;143(4):326-32.

PMID:
17256792
10.

Novel frameshift variant in gene SALL4 causing Okihiro syndrome.

Alves LU, Perez AB, Alonso LG, Otto PA, Mingroni-Netto RC.

Eur J Med Genet. 2016 Feb;59(2):80-5. doi: 10.1016/j.ejmg.2015.12.015. Epub 2016 Jan 11.

11.

Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome.

Yang MM, Ho M, Lau HH, Tam PO, Young AL, Pang CP, Yip WW, Chen L.

Mol Vis. 2013 May 6;19:986-94. Print 2013.

12.

Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient.

Walter KN, Greenhalgh KL, Newbury-Ecob RA, Kohlhase J.

Am J Med Genet A. 2006 Mar 15;140(6):649-51. No abstract available.

PMID:
16470706
13.

Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.

Al-Baradie R, Yamada K, St Hilaire C, Chan WM, Andrews C, McIntosh N, Nakano M, Martonyi EJ, Raymond WR, Okumura S, Okihiro MM, Engle EC.

Am J Hum Genet. 2002 Nov;71(5):1195-9. Epub 2002 Oct 22.

14.

The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene.

van den Ende JJ, Mattelaer P, Declau F, Vanhoenacker F, Claes J, Van Hul E, Baten E.

Clin Dysmorphol. 2005 Apr;14(2):73-80.

PMID:
15770128
15.

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.

J Med Genet. 2002 Jan;39(1):68-71. No abstract available.

16.

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.

Ophthalmic Genet. 2011 Sep;32(3):156-7. doi: 10.3109/13816810.2011.559652. Epub 2011 Mar 15.

PMID:
21405998
17.

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.

Hum Genet. 2006 Mar;119(1-2):154-61. Epub 2006 Jan 3.

PMID:
16402211
18.

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
19.

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

Wabbels BK, Kohlhase J, Lorenz B.

Klin Monbl Augenheilkd. 2004 Oct;221(10):849-53. German.

PMID:
15499520
20.

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.

J Med Genet. 2004 Sep;41(9):e113. No abstract available.

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