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Items: 15

1.

Murine Sall1 represses transcription by recruiting a histone deacetylase complex.

Kiefer SM, McDill BW, Yang J, Rauchman M.

J Biol Chem. 2002 Apr 26;277(17):14869-76. Epub 2002 Feb 8.

2.

SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin.

Netzer C, Rieger L, Brero A, Zhang CD, Hinzke M, Kohlhase J, Bohlander SK.

Hum Mol Genet. 2001 Dec 15;10(26):3017-24.

3.

Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2.

Nakano M, Yamada K, Fain J, Sener EC, Selleck CJ, Awad AH, Zwaan J, Mullaney PB, Bosley TM, Engle EC.

Nat Genet. 2001 Nov;29(3):315-20.

PMID:
11600883
4.

Characteristics of Okihiro syndrome.

Chun BB, Mazzoli RA, Raymond WR.

J Pediatr Ophthalmol Strabismus. 2001 Jul-Aug;38(4):235-9.

PMID:
11495312
5.

Clinical diversity of hereditary Duane's retraction syndrome.

Chung M, Stout JT, Borchert MS.

Ophthalmology. 2000 Mar;107(3):500-3.

PMID:
10711888
6.

SALL3, a new member of the human spalt-like gene family, maps to 18q23.

Kohlhase J, Hausmann S, Stojmenovic G, Dixkens C, Bink K, Schulz-Schaeffer W, Altmann M, Engel W.

Genomics. 1999 Dec 1;62(2):216-22.

PMID:
10610715
7.

Localization of a gene for Duane retraction syndrome to chromosome 2q31.

Appukuttan B, Gillanders E, Juo SH, Freas-Lutz D, Ott S, Sood R, Van Auken A, Bailey-Wilson J, Wang X, Patel RJ, Robbins CM, Chung M, Annett G, Weinberg K, Borchert MS, Trent JM, Brownstein MJ, Stout JT.

Am J Hum Genet. 1999 Dec;65(6):1639-46.

8.

Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.

Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W.

Nat Genet. 1998 Jan;18(1):81-3.

PMID:
9425907
9.

Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt.

Kohlhase J, Schuh R, Dowe G, Kühnlein RP, Jäckle H, Schroeder B, Schulz-Schaeffer W, Kretzschmar HA, Köhler A, Müller U, Raab-Vetter M, Burkhardt E, Engel W, Stick R.

Genomics. 1996 Dec 15;38(3):291-8.

PMID:
8975705
10.

Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.

Engle EC, Kunkel LM, Specht LA, Beggs AH.

Nat Genet. 1994 May;7(1):69-73.

PMID:
8075644
11.

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.

Vincent C, Kalatzis V, Compain S, Levilliers J, Slim R, Graia F, Pereira ML, Nivelon A, Croquette MF, Lacombe D, et al.

Hum Mol Genet. 1994 Oct;3(10):1859-66.

PMID:
7849713
12.

Bilateral Duane's retraction syndrome. A clinical-pathologic case report.

Hotchkiss MG, Miller NR, Clark AW, Green WR.

Arch Ophthalmol. 1980 May;98(5):870-4.

PMID:
7378011
13.

Unilateral Duane's retraction syndrome (Type 1).

Miller NR, Kiel SM, Green WR, Clark AW.

Arch Ophthalmol. 1982 Sep;100(9):1468-72.

PMID:
7115176
14.

Duane syndrome and congenital upper-limb anomalies. A familial occurrence.

Okihiro MM, Tasaki T, Nakano KK, Bennett BK.

Arch Neurol. 1977 Mar;34(3):174-9.

PMID:
843249
15.

The genetics of hand malformations.

Temtamy SA, McKusick VA.

Birth Defects Orig Artic Ser. 1978;14(3):i-xviii, 1-619. No abstract available.

PMID:
215242
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