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Items: 1 to 20 of 154

1.

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
2.

Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian family.

Venkatesh CP, Pillai VS, Raghunath A, Prakash VS, Vathsala R, Pericak-Vance MA, Kumar A.

Mol Vis. 2002 Aug 14;8:294-7.

3.

CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3.

Doherty EJ, Macy ME, Wang SM, Dykeman CP, Melanson MT, Engle EC.

Invest Ophthalmol Vis Sci. 1999 Jul;40(8):1687-94.

PMID:
10393037
4.

Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12.

Engle EC, Marondel I, Houtman WA, de Vries B, Loewenstein A, Lazar M, Ward DC, Kucherlapati R, Beggs AH.

Am J Hum Genet. 1995 Nov;57(5):1086-94. Erratum in: Am J Hum Genet 1996 Jan;58(1):252.

5.

Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles.

Traboulsi EI, Lee BA, Mousawi A, Khamis AR, Engle EC.

Am J Ophthalmol. 2000 May;129(5):658-62.

PMID:
10844060
6.

A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical region.

Uyama E, Yamada K, Kawano H, Chan WM, Andrews C, Yoshioka M, Uchino M, Engle EC.

Neuromuscul Disord. 2003 Aug;13(6):472-8.

PMID:
12899874
7.

Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia.

Flaherty MP, Grattan-Smith P, Steinberg A, Jamieson R, Engle EC.

Ophthalmology. 2001 Jul;108(7):1313-22.

PMID:
11425694
8.

A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1.

Engle EC, Castro AE, Macy ME, Knoll JH, Beggs AH.

Am J Hum Genet. 1997 May;60(5):1150-7.

9.

[The clinical manifestation and linkage analysis in one Chinese family with congenital fibrosis of extraocular muscles].

Zhao C, Lu SS, Li ND, Chen WY, Zhao KX.

Zhonghua Yan Ke Za Zhi. 2005 Jul;41(7):594-9. Chinese.

PMID:
16080892
10.

A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12.

Sener EC, Lee BA, Turgut B, Akarsu AN, Engle EC.

Arch Ophthalmol. 2000 Aug;118(8):1090-7.

PMID:
10922204
11.

Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.

Wang SM, Zwaan J, Mullaney PB, Jabak MH, Al-Awad A, Beggs AH, Engle EC.

Am J Hum Genet. 1998 Aug;63(2):517-25.

12.

[Clinical investigation of the syndrome of congenital fibrosis of extraocular muscles].

Yang X, Hu C, Fan GY, Wang Z, Kong QL, Xu JL, Liu Y.

Zhonghua Yan Ke Za Zhi. 2005 Jul;41(7):600-5. Chinese.

PMID:
16080893
13.

A new locus for dominant "zonular pulverulent" cataract, on chromosome 13.

Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S, Shiels A.

Am J Hum Genet. 1997 Jun;60(6):1474-8.

14.

Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes.

Aubourg P, Krahn M, Bernard R, Nguyen K, Forzano O, Boccaccio I, Delague V, De Sandre-Giovannoli A, Pouget J, Depétris D, Mattei MG, Philip N, Lévy N.

J Med Genet. 2005 Mar;42(3):253-9. No abstract available.

15.

Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles.

Engle EC, Goumnerov BC, McKeown CA, Schatz M, Johns DR, Porter JD, Beggs AH.

Ann Neurol. 1997 Mar;41(3):314-25.

PMID:
9066352
16.

Congenital fibrosis of the extraocular muscles.

Heidary G, Engle EC, Hunter DG.

Semin Ophthalmol. 2008 Jan-Feb;23(1):3-8. doi: 10.1080/08820530701745181. Review.

PMID:
18214786
17.

Phenotypic heterogeneity may occur in congenital fibrosis of the extraocular muscles.

Reck AC, Manners R, Hatchwell E.

Br J Ophthalmol. 1998 Jun;82(6):676-9.

18.

Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM).

Black GC, Perveen R, Hatchwell E, Reck A, Clayton-Smith J.

J Med Genet. 1998 Dec;35(12):985-8.

19.

Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13.

Chen WM, Liu YF, Lin MW, Chen IC, Lin PY, Lin GL, Jou YS, Lin YT, Fann CS, Wu JY, Hsiao KJ, Tsai SF.

Am J Hum Genet. 2004 Aug;75(2):310-7. Epub 2004 Jun 3.

20.

The molecular basis of the congenital fibrosis syndromes.

Engle EC.

Strabismus. 2002 Jun;10(2):125-8.

PMID:
12221491

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