PMC Links for OMIM (Select 607343) - PMC

Select item 37812141.

Oncofetal Gene SALL4 in Aggressive Hepatocellular Carcinoma

Kol Jia Yong, Chong Gao, Joline S.J. Lim, Benedict Yan, Henry Yang, Todor Dimitrov, Akira Kawasaki, Chee Wee Ong, Kwong-Fai Wong, Sanghoon Lee, Sharada Ravikumar, Supriya Srivastava, Xi Tian, Ronnie T. Poon, Sheung Tat Fan, John M. Luk, Yock Young Dan, Manuel Salto-Tellez, Li Chai, Daniel G. Tenen

N Engl J Med. Author manuscript; available in PMC 2013 Dec 13.

Published in final edited form as: N Engl J Med. 2013 Jun 13; 368(24): 2266–2276. doi: 10.1056/NEJMoa1300297

PMCID:: PMC3781214

Abstract Article PDF–4.4M

Select item 25404552.

Thalidomide may be a mutagen.

W. G. McBride

BMJ. 1994 Jun 18; 308(6944): 1635–1636. doi: 10.1136/bmj.308.6944.1635b

PMCID:: PMC2540455

Summary Page Browse PDF–917K

Select item 17358883.

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

W Borozdin, D Boehm, M Leipoldt, C Wilhelm, W Reardon, J Clayton-Smith, K Becker, H Muhlendyck, R Winter, O Giray, F Silan, J Kohlhase

J Med Genet. 2004 Sep; 41(9): e113. doi: 10.1136/jmg.2004.019901

PMCID:: PMC1735888

Summary PDF–418K

Select item 17355284.

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

J Kohlhase, L Schubert, M Liebers, A Rauch, K Becker, S Mohammed, R Newbury-Ecob, W Reardon

J Med Genet. 2003 Jul; 40(7): 473–478. doi: 10.1136/jmg.40.7.473

PMCID:: PMC1735528

Summary PDF–542K

Select item 17349675.

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

K Becker, P. Beales, D Calver, G Matthijs, S Mohammed

J Med Genet. 2002 Jan; 39(1): 68–71. doi: 10.1136/jmg.39.1.68

PMCID:: PMC1734967

Summary PDF–181K

Select item 11805926.

Expressivity of Holt-Oram Syndrome Is Not Predicted by TBX5 Genotype

Anna-Marie E. Brassington, Sandy S. Sung, Reha M. Toydemir, Trung Le, Amy D. Roeder, Ann E. Rutherford, Frank G. Whitby, Lynn B. Jorde, Michael J. Bamshad

Am J Hum Genet. 2003 Jul; 73(1): 74–85. Published online 2003 Jun 3. doi: 10.1086/376436

PMCID:: PMC1180592

Abstract Article PDF–941K

Select item 3850967.

Duane Radial Ray Syndrome (Okihiro Syndrome) Maps to 20q13 and Results from Mutations in SALL4, a New Member of the SAL Family

Raidah Al-Baradie, Koki Yamada, Cynthia St. Hilaire, Wai-Man Chan, Caroline Andrews, Nathalie McIntosh, Motoi Nakano, E. Jean Martonyi, William R. Raymond, Sada Okumura, Michael M. Okihiro, Elizabeth C. Engle

Am J Hum Genet. 2002 Nov; 71(5): 1195–1199. Published online 2002 Oct 22. doi: 10.1086/343821

PMCID:: PMC385096

Abstract Article PDF–417K

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