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Elizabeth Engle

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Sheena Chew; Thomas O Crawford; William F Crowley; Caroline Andrews; Ravikumar Balasubramanian; Wai-Man Chan; Michael Geraghty; Patricia E Grant; David G Hunter; Ethylin Jabs; Peter B Kang; Sarah E MacKinnon; Darren T Oystreck; Scott L Pomeroy; Jessica Rankin; Bryn D Webb; Elizabeth C Engle
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.
Gustav Y Cederquist; Wai-Man Chan; Sheena Chew; Caroline Andrews; Maree Flaherty; Lavier Gomes; Patricia Ellen Grant; Mohan L Gupta; Robyn V Jamieson; Anna Luchniak; Manoj P Menezes; Maya Peeva; Yuyu Song; Max A Tischfield; Elizabeth C Engle
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
Bryn D Webb; Xiaoqian Ye; Sarah MacKinnon; Darren T Oystreck; Caroline D Robson; Christian R Schubert; Sherin Shaaban; Caroline Andrews; Anne Camminady; Wai-Man Chan; Luis F Cunha; Elizabeth C Engle; Harald Gaspar; Ke Hao; David G Hunter; Anthony J Iacovelli; Ethylin Jabs
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.

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All Publications

2013: Sheena Chew; Thomas O Crawford; William F Crowley; Caroline Andrews; Ravikumar Balasubramanian; Wai-Man Chan; Michael Geraghty; Patricia E Grant; David G Hunter; Ethylin Jabs; Peter B Kang; Sarah E MacKinnon; Darren T Oystreck; Scott L Pomeroy; Jessica Rankin; Bryn D Webb; Elizabeth C Engle
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.
Brain : a journal of neurology 2013;136(Pt 2):522-35.
2012: Gustav Y Cederquist; Wai-Man Chan; Sheena Chew; Caroline Andrews; Maree Flaherty; Lavier Gomes; Patricia Ellen Grant; Mohan L Gupta; Robyn V Jamieson; Anna Luchniak; Manoj P Menezes; Maya Peeva; Yuyu Song; Max A Tischfield; Elizabeth C Engle
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
Human molecular genetics 2012;21(26):5484-99.
2012: Bryn D Webb; Xiaoqian Ye; Sarah MacKinnon; Darren T Oystreck; Caroline D Robson; Christian R Schubert; Sherin Shaaban; Caroline Andrews; Anne Camminady; Wai-Man Chan; Luis F Cunha; Elizabeth C Engle; Harald Gaspar; Ke Hao; David G Hunter; Anthony J Iacovelli; Ethylin Jabs
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.
American journal of human genetics 2012;91(1):171-9.
2012: Jigar Desai; Lynne M Overman; Marie Pia Rogines Velo; Koki Yamada; Elizabeth C Engle
Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
Gene expression patterns : GEP 2012;12(5-6):180-8.
2011: Wai-Man Chan; Noriko Miyake; Lily Zhu-Tam; Caroline Andrews; Elizabeth C Engle
Two novel CHN1 mutations in 2 families with Duane retraction syndrome.
Archives of ophthalmology 2011;129(5):649-52.
2011: Darren T Oystreck; Elizabeth C Engle; Thomas M Bosley
Recent progress in understanding congenital cranial dysinnervation disorders.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2011;31(1):69-77.
2010: Elizabeth C Engle
Human genetic disorders of axon guidance.
Cold Spring Harbor perspectives in biology 2010;2(3):a001784.
2010: Jessica K Rankin; Caroline Andrews; Wai-Man Chan; Elizabeth C Engle
HOXA1 mutations are not a common cause of Möbius syndrome.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2010;14(1):78-80.
2010: Noriko Miyake; Caroline Andrews; Wen Fan; Wei He; Wai-Man Chan; Elizabeth C Engle
CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome.
American journal of medical genetics. Part A 2010;152A(1):215-7.
2009: Darren T Oystreck; Arif O Khan; Antonio Aguirre Vila-Coro; Olugbemisola Oworu; Nada Al-Tassan; Wai-Man Chan; Elizabeth C Engle; Thomas Bosley
Synergistic divergence: a distinct ocular motility dysinnervation pattern.
Investigative ophthalmology & visual science 2009;50(11):5213-6.
2008: Noriko Miyake; John Chilton; Maria Psatha; Long Cheng; Caroline Andrews; Wai-Man Chan; Krystal Law; Moira Crosier; Susan Lindsay; Michelle Cheung; James Allen; Nick J Gutowski; Sian Ellard; Elizabeth Young; Alessandro Iannaccone; Binoy Appukuttan; J Timothy Stout; Stephen Christiansen; Maria Laura Ciccarelli; Alfonso Baldi; Mara Campioni; Juan C Zenteno; Dominic Davenport; Laura E Mariani; Mustafa Sahin; Sarah Guthrie; Elizabeth C Engle
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
Science (New York, N.Y.) 2008;321(5890):839-43.
2008: Gena Heidary; Elizabeth C Engle; David G Hunter
Congenital fibrosis of the extraocular muscles.
Seminars in ophthalmology 2008;23(1):3-8.
2007: Thomas Bosley; Mustafa A Salih; Ibrahim Alorainy; Darren T Oystreck; M Nester; Khaled K Abu-Amero; Max A Tischfield; Elizabeth C Engle
Clinical characterization of the HOXA1 syndrome BSAS variant.
Neurology 2007;69(12):1245-53.
2007: Elizabeth C Engle
Genetic basis of congenital strabismus.
Archives of ophthalmology 2007;125(2):189-95.
2007: Wai-Man Chan; Caroline Andrews; Laryssa Dragan; Douglas Fredrick; Linlea Armstrong; Christopher Lyons; Michael T Geraghty; David G Hunter; Ahmad Yazdani; Elias Traboulsi; Jan Willem R Pott; Nicholas J Gutowski; Sian Ellard; Elizabeth Young; Frank Hanisch; Feray Koc; Bruce Schnall; Elizabeth C Engle
Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.
BMC genetics 2007;8():26.
2007: Elizabeth C Engle; Caroline Andrews; Krystal Law; Joseph L Demer
Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus.
Investigative ophthalmology & visual science 2007;48(1):189-93.
2006: Thomas Bosley; Darren T Oystreck; Richard L Robertson; Abdulaziz al Awad; Khaled K Abu-Amero; Elizabeth C Engle
Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A.
Brain : a journal of neurology 2006;129(Pt 9):2363-74.
2006: Max A Tischfield; Wai-Man Chan; Jann-Frederik Grunert; Caroline Andrews; Elizabeth C Engle
HOXA1 mutations are not a common cause of Duane anomaly.
American journal of medical genetics. Part A 2006;140(8):900-2.
2006: Joseph L Demer; Maria Carolina Ortube; Elizabeth C Engle; Neepa Thacker
High-resolution magnetic resonance imaging demonstrates abnormalities of motor nerves and extraocular muscles in patients with neuropathic strabismus.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2006;10(2):135-42.
2006: Elizabeth C Engle
The genetic basis of complex strabismus.
Pediatric research 2006;59(3):343-8.
2005: Max A Tischfield; Thomas Bosley; Mustafa A Salih; Ibrahim Alorainy; Emin Cumhur Sener; Michael J Nester; Darren T Oystreck; Wai-Man Chan; Caroline Andrews; Robert P Erickson; Elizabeth C Engle
Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.
Nature genetics 2005;37(10):1035-7.
2005: Koki Yamada; David G Hunter; Caroline Andrews; Elizabeth C Engle
A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon.
Archives of ophthalmology 2005;123(9):1254-9.
2004: Koki Yamada; Wai-Man Chan; Caroline Andrews; Thomas Bosley; Emin Cumhur Sener; Johan T Zwaan; Paul B Mullaney; Banu T Oztürk; A Nurten Akarsu; Louise J Sabol; Joseph L Demer; Timothy J Sullivan; Irene Gottlob; Peter Roggenkäemper; David A Mackey; Clara E De Uzcategui; Nicolas Uzcategui; Bruria Ben-Zeev; Elias Traboulsi; Adriano Magli; Teresa de Berardinis; Vincenzo Gagliardi; Sudha Awasthi-Patney; Marlene C Vogel; Joseph F Rizzo; Elizabeth C Engle
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).
Investigative ophthalmology & visual science 2004;45(7):2218-23.
2003: Ahmad Yazdani; Daniel C Chung; Morteza Abbaszadegan; Kholoud Al-Khayer; Wai Man Chan; Milad Yazdani; Kazem Ghodsi; Elizabeth C Engle; Elias Traboulsi
A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2).
American journal of ophthalmology 2003;136(5):861-5.
2003: Nicholas J Gutowski; Thomas Bosley; Elizabeth C Engle
110th ENMC International Workshop: the congenital cranial dysinnervation disorders (CCDDs). Naarden, The Netherlands, 25-27 October, 2002.
Neuromuscular disorders : NMD 2003;13(7-8):573-8.
2003: Christina Pieh; Hans-Hilmar Goebel; Elizabeth C Engle; Irene Gottlob
Congenital fibrosis syndrome associated with central nervous system abnormalities.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2003;241(7):546-53.
2003: Monique M Ryan; Elizabeth C Engle
Acute ataxia in childhood.
Journal of child neurology 2003;18(5):309-16.
2002: 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
Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.
American journal of human genetics 2002;71(5):1195-9.
2002: Alessandro Iannaccone; Nathalie McIntosh; Maria Laura Ciccarelli; Alfonso Baldi; P Allesandro Mutolo; Salvatore A Tedesco; Elizabeth C Engle
Familial unilateral Brown syndrome.
Ophthalmic genetics 2002;23(3):175-84.
2002: Irene Gottlob; Sunila Jain; Elizabeth C Engle
Elevation of one eye during tooth brushing.
American journal of ophthalmology 2002;134(3):459-60.
2002: Elizabeth C Engle
Applications of molecular genetics to the understanding of congenital ocular motility disorders.
Annals of the New York Academy of Sciences 2002;956():55-63.
2002: Elizabeth C Engle; Nathalie McIntosh; Koki Yamada; Bjorn A Lee; Roger Johnson; Michael O'Keefe; Robert Letson; Arnold London; Evan Ballard; Mark Ruttum; Naomichi Matsumoto; Nakamichi Saito; MARY COLLINS; Lisa Morris; Monte A Delmonte; Adriano Magli; Teresa de Berardinis
CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX.
BMC genetics 2002;3():3.
2001: M Nakano; K Yamada; J Fain; Emin Cumhur Sener; C J Selleck; Abdulaziz H Awad; Johan T Zwaan; Paul B Mullaney; Thomas Bosley; Elizabeth C Engle
Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2.
Nature genetics 2001;29(3):315-20.
2000: Emin Cumhur Sener; Bjorn A Lee; B Turgut; A Nurten Akarsu; Elizabeth C Engle
A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12.
Archives of ophthalmology 2000;118(8):1090-7.
2000: Elias Traboulsi; Bjorn A Lee; A Mousawi; A R Khamis; Elizabeth C Engle
Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles.
American journal of ophthalmology 2000;129(5):658-62.
1999: E J Doherty; M E Macy; S M Wang; C P Dykeman; M T Melanson; Elizabeth C Engle
CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3.
Investigative ophthalmology & visual science 1999;40(8):1687-94.
1999: Elizabeth C Engle
A genetic approach to congenital extraocular muscle disorders.
Journal of child neurology 1999;14(1):34-7.
1998: S M Wang; Johan T Zwaan; Paul B Mullaney; Monzer Jabak; Abdulaziz al Awad; Alan H Beggs; Elizabeth C Engle
Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.
American journal of human genetics 1998;63(2):517-25.
1997: Elizabeth C Engle; A E Castro; M E Macy; J H Knoll; A H Beggs
A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1.
American journal of human genetics 1997;60(5):1150-7.
1997: Elizabeth C Engle; B C Goumnerov; Craig McKeown; M Schatz; D R Johns; J D Porter; A H Beggs
Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles.
Annals of neurology 1997;41(3):314-25.
1995: Elizabeth C Engle; I Marondel; W A Houtman; B de Vries; A Loewenstein; M Lazar; David C Ward; Raju Kucherlapati; Alan H Beggs
Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12.
American journal of human genetics 1995;57(5):1086-94.
1994: Elizabeth C Engle; Louis Kunkel; L A Specht; Alan H Beggs
Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.
Nature genetics 1994;7(1):69-73.
1993: F Dangond; Elizabeth C Engle; L Yessayan; M H Sawyer
Pre-eruptive varicella cerebellitis confirmed by PCR.
Pediatric neurology 1993;9(6):491-3.