Engle EC - Search Results

1

Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development.

Jurgens JA, Barry BJ, Lemire G, Chan WM, Whitman MC, Shaaban S, Robson CD, MacKinnon S, England EM, McMillan HJ, Kelly C, Pratt BM; Care4Rare Canada Consortium; O'Donnell-Luria A, MacArthur DG, Boycott KM, Hunter DG, Engle EC. Jurgens JA, et al. Among authors: engle ec. Eur J Hum Genet. 2021 May;29(5):816-826. doi: 10.1038/s41431-020-00804-7. Epub 2021 Mar 1. Eur J Hum Genet. 2021. PMID: 33649541 Free PMC article.

2

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. Engle EC, et al. Am J Hum Genet. 1995 Nov;57(5):1086-94. Am J Hum Genet. 1995. PMID: 7485159 Free PMC article.

3

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. Engle EC, et al. Nat Genet. 1994 May;7(1):69-73. doi: 10.1038/ng0594-69. Nat Genet. 1994. PMID: 8075644

4

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. Engle EC, et al. Ann Neurol. 1997 Mar;41(3):314-25. doi: 10.1002/ana.410410306. Ann Neurol. 1997. PMID: 9066352

5

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. Wang SM, et al. Among authors: engle ec. Am J Hum Genet. 1998 Aug;63(2):517-25. doi: 10.1086/301980. Am J Hum Genet. 1998. PMID: 9683611 Free PMC article.

6

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. Flaherty MP, et al. Among authors: engle ec. Ophthalmology. 2001 Jul;108(7):1313-22. doi: 10.1016/s0161-6420(01)00582-6. Ophthalmology. 2001. PMID: 11425694

7

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. Nakano M, et al. Among authors: engle ec. Nat Genet. 2001 Nov;29(3):315-20. doi: 10.1038/ng744. Nat Genet. 2001. PMID: 11600883

8

CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX.

Engle EC, McIntosh N, Yamada K, Lee BA, Johnson R, O'Keefe M, Letson R, London A, Ballard E, Ruttum M, Matsumoto N, Saito N, Collins ML, Morris L, Del Monte M, Magli A, de Berardinis T. Engle EC, et al. BMC Genet. 2002;3:3. doi: 10.1186/1471-2156-3-3. Epub 2002 Mar 6. BMC Genet. 2002. PMID: 11882252 Free PMC article.

9

Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus.

Mackey DA, Chan WM, Chan C, Gillies WE, Brooks AM, O'Day J, Engle EC. Mackey DA, et al. Among authors: engle ec. Hum Genet. 2002 May;110(5):510-2. doi: 10.1007/s00439-002-0707-5. Epub 2002 Mar 23. Hum Genet. 2002. PMID: 12073023

10

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. Al-Baradie R, et al. Among authors: engle ec. Am J Hum Genet. 2002 Nov;71(5):1195-9. doi: 10.1086/343821. Epub 2002 Oct 22. Am J Hum Genet. 2002. PMID: 12395297 Free PMC article.

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