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Elizabeth Carson Engle, MD - Publications

Affiliations: 
Neurology and Ophthalmology Childrens Hospital Boston, Harvard Medical School, Boston, MA, United States 
Area:
Developmental Neuroscience and Disease
Website:
http://www.hms.harvard.edu/dms/neuroscience/fac/engle.html

91 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2016 Brownstein CA, Kleiman RJ, Engle EC, Towne MC, D'Angelo EJ, Yu TW, Beggs AH, Picker J, Fogler JM, Carroll D, Schmitt RC, Wolff RR, Shen Y, Lip V, Bilguvar K, et al. Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports. American Journal of Medical Genetics. Part A. PMID 26887912 DOI: 10.1002/ajmg.a.37595  0.56
2015 Whitman MC, Andrews C, Chan WM, Tischfield MA, Stasheff SF, Brancati F, Ortiz-Gonzalez X, Nuovo S, Garaci F, MacKinnon SE, Hunter DG, Grant PE, Engle EC. Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. American Journal of Medical Genetics. Part A. PMID 26639658 DOI: 10.1002/ajmg.a.37362  0.56
2015 Balasubramanian R, Chew S, MacKinnon SE, Kang PB, Andrews C, Chan WM, Engle EC. Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome. The Journal of Clinical Endocrinology and Metabolism. 100: E473-7. PMID 25559402 DOI: 10.1210/jc.2014-4107  0.56
2014 Khan AO, Almutlaq M, Oystreck DT, Engle EC, Abu-Amero K, Bosley T. Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2. Ophthalmic Genetics. 1-7. PMID 24940936 DOI: 10.3109/13816810.2014.926942  0.56
2014 Cheng L, Desai J, Miranda CJ, Duncan JS, Qiu W, Nugent AA, Kolpak AL, Wu CC, Drokhlyansky E, Delisle MM, Chan WM, Wei Y, Propst F, Reck-Peterson SL, Fritzsch B, ... Engle EC, et al. Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling. Neuron. 82: 334-49. PMID 24656932 DOI: 10.1016/j.neuron.2014.02.038  0.56
2014 MacKinnon S, Oystreck DT, Andrews C, Chan WM, Hunter DG, Engle EC. Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome. Ophthalmology. 121: 1461-8. PMID 24612975 DOI: 10.1016/j.ophtha.2014.01.006  0.56
2014 Irahara K, Saito Y, Sugai K, Nakagawa E, Saito T, Komaki H, Nakata Y, Sato N, Baba K, Yamamoto T, Chan WM, Andrews C, Engle EC, Sasaki M. Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome. Pediatric Neurology. 50: 384-8. PMID 24507697 DOI: 10.1016/j.pediatrneurol.2013.12.013  0.56
2014 Thomas S, Thomas MG, Andrews C, Chan WM, Proudlock FA, McLean RJ, Pradeep A, Engle EC, Gottlob I. Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation. European Journal of Human Genetics : Ejhg. 22: 344-9. PMID 23942204 DOI: 10.1038/ejhg.2013.162  0.56
2014 Shaaban S, Duzcan F, Yildirim C, Chan WM, Andrews C, Akarsu NA, Engle EC. Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes. Clinical Genetics. 85: 562-7. PMID 23808592 DOI: 10.1111/cge.12224  0.56
2014 Ryan MM, Engle EC. Disorders of the Ocular Motor Cranial Nerves and Extraocular Muscles Neuromuscular Disorders of Infancy, Childhood, and Adolescence: a Clinician's Approach. 922-957. DOI: 10.1016/B978-0-12-417044-5.00046-9  0.56
2013 Graeber CP, Hunter DG, Engle EC. The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease. Seminars in Ophthalmology. 28: 427-37. PMID 24138051 DOI: 10.3109/08820538.2013.825288  0.56
2013 Shaaban S, Ramos-Platt L, Gilles FH, Chan WM, Andrews C, De Girolami U, Demer J, Engle EC. RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia. Jama Ophthalmology. 131: 1532-40. PMID 24091937 DOI: 10.1001/jamaophthalmol.2013.4392  0.56
2013 Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF, Jabs EW, Hunter DG, ... ... Engle EC, et al. A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. Brain : a Journal of Neurology. 136: 522-35. PMID 23378218 DOI: 10.1093/brain/aws345  0.56
2012 Cederquist GY, Luchniak A, Tischfield MA, Peeva M, Song Y, Menezes MP, Chan WM, Andrews C, Chew S, Jamieson RV, Gomes L, Flaherty M, Grant PE, Gupta ML, Engle EC. An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. Human Molecular Genetics. 21: 5484-99. PMID 23001566 DOI: 10.1093/hmg/dds393  0.56
2012 Webb BD, Shaaban S, Gaspar H, Cunha LF, Schubert CR, Hao K, Robson CD, Chan WM, Andrews C, MacKinnon S, Oystreck DT, Hunter DG, Iacovelli AJ, Ye X, Camminady A, ... Engle EC, et al. HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. American Journal of Human Genetics. 91: 171-9. PMID 22770981 DOI: 10.1016/j.ajhg.2012.05.018  0.56
2012 Desai J, Velo MP, Yamada K, Overman LM, Engle EC. Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Gene Expression Patterns : Gep. 12: 180-8. PMID 22465342 DOI: 10.1016/j.gep.2012.03.003  0.56
2012 Nugent AA, Kolpak AL, Engle EC. Human disorders of axon guidance. Current Opinion in Neurobiology. 22: 837-43. PMID 22398400 DOI: 10.1016/j.conb.2012.02.006  0.56
2012 Högen T, Chan WM, Riedel E, Brüning R, Chang HH, Engle EC, Danek A. Wildervanck's syndrome and mirror movements: a congenital disorder of axon migration? Journal of Neurology. 259: 761-3. PMID 21947222 DOI: 10.1007/s00415-011-6239-y  0.56
2011 VanderVeen DK, Andrews C, Nihalani BR, Engle EC. Crystalline cataract caused by a heterozygous missense mutation in γD-crystallin (CRYGD). Molecular Vision. 17: 3333-8. PMID 22219628  0.56
2011 Miyake N, Demer JL, Shaaban S, Andrews C, Chan WM, Christiansen SP, Hunter DG, Engle EC. Expansion of the CHN1 strabismus phenotype. Investigative Ophthalmology & Visual Science. 52: 6321-8. PMID 21715346 DOI: 10.1167/iovs.11-7950  0.56
2011 Chan WM, Miyake N, Zhu-Tam L, Andrews C, Engle EC. Two novel CHN1 mutations in 2 families with Duane retraction syndrome. Archives of Ophthalmology (Chicago, Ill. : 1960). 129: 649-52. PMID 21555619 DOI: 10.1001/archophthalmol.2011.84  0.56
2011 Thomas MG, Kumar A, Mohammad S, Proudlock FA, Engle EC, Andrews C, Chan WM, Thomas S, Gottlob I. Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity? Ophthalmology. 118: 1653-60. PMID 21529956 DOI: 10.1016/j.ophtha.2011.01.028  0.56
2011 Oystreck DT, Engle EC, Bosley TM. Recent progress in understanding congenital cranial dysinnervation disorders. Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society. 31: 69-77. PMID 21317732 DOI: 10.1097/WNO.0b013e31820d0756  0.56
2011 Tischfield MA, Cederquist GY, Gupta ML, Engle EC. Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations. Current Opinion in Genetics & Development. 21: 286-94. PMID 21292473 DOI: 10.1016/j.gde.2011.01.003  0.56
2010 Yang X, Yamada K, Katz B, Guan H, Wang L, Andrews C, Zhao G, Engle EC, Chen H, Tong Z, Kong J, Hu C, Kong Q, Fan G, Wang Z, et al. KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). Molecular Vision. 16: 2062-70. PMID 21042561  0.56
2010 Walsh CA, Engle EC. Allelic diversity in human developmental neurogenetics: insights into biology and disease. Neuron. 68: 245-53. PMID 20955932 DOI: 10.1016/j.neuron.2010.09.042  0.56
2010 Ching MS, Shen Y, Tan WH, Jeste SS, Morrow EM, Chen X, Mukaddes NM, Yoo SY, Hanson E, Hundley R, Austin C, Becker RE, Berry GT, Driscoll K, Engle EC, et al. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 153: 937-47. PMID 20468056 DOI: 10.1002/ajmg.b.31063  0.56
2010 Tischfield MA, Engle EC. Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis. Bioscience Reports. 30: 319-30. PMID 20406197 DOI: 10.1042/BSR20100025  0.56
2010 Demer JL, Clark RA, Tischfield MA, Engle EC. Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations. Investigative Ophthalmology & Visual Science. 51: 4600-11. PMID 20393110 DOI: 10.1167/iovs.10-5438  0.56
2010 Engle EC. Human genetic disorders of axon guidance. Cold Spring Harbor Perspectives in Biology. 2: a001784. PMID 20300212 DOI: 10.1101/cshperspect.a001784  0.56
2010 Rankin JK, Andrews C, Chan WM, Engle EC. 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. 14: 78-80. PMID 20227628 DOI: 10.1016/j.jaapos.2009.11.007  0.56
2010 Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, ... ... Engle EC, et al. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell. 140: 74-87. PMID 20074521 DOI: 10.1016/j.cell.2009.12.011  0.56
2010 Miyake N, Andrews C, Fan W, He W, Chan WM, Engle EC. CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome. American Journal of Medical Genetics. Part A. 152: 215-7. PMID 20034095 DOI: 10.1002/ajmg.a.33168  0.56
2009 Oystreck DT, Khan AO, Vila-Coro AA, Oworu O, Al-Tassan N, Chan WM, Engle EC, Bosley TM. Synergistic divergence: a distinct ocular motility dysinnervation pattern. Investigative Ophthalmology & Visual Science. 50: 5213-6. PMID 19578026 DOI: 10.1167/iovs.08-2928  0.56
2009 Murillo-Correa CE, Kon-Jara V, Engle EC, Zenteno JC. Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome. Journal of Aapos : the Official Publication of the American Association For Pediatric Ophthalmology and Strabismus / American Association For Pediatric Ophthalmology and Strabismus. 13: 245-8. PMID 19541263 DOI: 10.1016/j.jaapos.2009.03.007  0.56
2009 Flaherty MP, Balachandran C, Jamieson R, Engle EC. Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata. Ophthalmic Genetics. 30: 91-5. PMID 19373680 DOI: 10.1080/13816810802697473  0.56
2008 Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, ... ... Engle EC, et al. Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science (New York, N.Y.). 321: 839-43. PMID 18653847 DOI: 10.1126/science.1156121  0.56
2008 Dumars S, Andrews C, Chan WM, Engle EC, Demer JL. Magnetic resonance imaging of the endophenotype of a novel familial Möbius-like syndrome. Journal of Aapos : the Official Publication of the American Association For Pediatric Ophthalmology and Strabismus / American Association For Pediatric Ophthalmology and Strabismus. 12: 381-9. PMID 18455936 DOI: 10.1016/j.jaapos.2008.01.018  0.56
2008 Bosley TM, Alorainy IA, Salih MA, Aldhalaan HM, Abu-Amero KK, Oystreck DT, Tischfield MA, Engle EC, Erickson RP. The clinical spectrum of homozygous HOXA1 mutations. American Journal of Medical Genetics. Part A. 146: 1235-40. PMID 18412118 DOI: 10.1002/ajmg.a.32262  0.56
2008 Heidary G, Engle EC, Hunter DG. Congenital fibrosis of the extraocular muscles. Seminars in Ophthalmology. 23: 3-8. PMID 18214786 DOI: 10.1080/08820530701745181  0.56
2007 Demer JL, Clark RA, Lim KH, Engle EC. Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome. Investigative Ophthalmology & Visual Science. 48: 5505-11. PMID 18055799 DOI: 10.1167/iovs.07-0772  0.56
2007 Bosley TM, Salih MA, Alorainy IA, Oystreck DT, Nester M, Abu-Amero KK, Tischfield MA, Engle EC. Clinical characterization of the HOXA1 syndrome BSAS variant. Neurology. 69: 1245-53. PMID 17875913 DOI: 10.1212/01.wnl.0000276947.59704.cf  0.56
2007 Chan WM, Andrews C, Dragan L, Fredrick D, Armstrong L, Lyons C, Geraghty MT, Hunter DG, Yazdani A, Traboulsi EI, Pott JW, Gutowski NJ, Ellard S, Young E, Hanisch F, ... ... Engle EC, et al. Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1. Bmc Genetics. 8: 26. PMID 17511870 DOI: 10.1186/1471-2156-8-26  0.56
2007 Engle EC. Oculomotility disorders arising from disruptions in brainstem motor neuron development. Archives of Neurology. 64: 633-7. PMID 17502461 DOI: 10.1001/archneur.64.5.633  0.56
2007 Lim KH, Engle EC, Demer JL. Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy. Investigative Ophthalmology & Visual Science. 48: 1601-6. PMID 17389489 DOI: 10.1167/iovs.06-0691  0.56
2007 Engle EC. Genetic basis of congenital strabismus. Archives of Ophthalmology (Chicago, Ill. : 1960). 125: 189-95. PMID 17296894 DOI: 10.1001/archopht.125.2.189  0.56
2007 Demer JL, Clark RA, Lim KH, Engle EC. Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus. Investigative Ophthalmology & Visual Science. 48: 194-202. PMID 17197533 DOI: 10.1167/iovs.06-0632  0.56
2007 Engle EC, Andrews C, Law K, Demer JL. Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus. Investigative Ophthalmology & Visual Science. 48: 189-93. PMID 17197532 DOI: 10.1167/iovs.06-0631  0.56
2006 Sicotte NL, Salamon G, Shattuck DW, Hageman N, Rüb U, Salamon N, Drain AE, Demer JL, Engle EC, Alger JR, Baloh RW, Deller T, Jen JC. Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations. Neurology. 67: 519-21. PMID 16894121 DOI: 10.1212/01.wnl.0000227960.38262.0c  0.56
2006 Bosley TM, Oystreck DT, Robertson RL, al Awad A, Abu-Amero K, Engle EC. Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A. Brain : a Journal of Neurology. 129: 2363-74. PMID 16815872 DOI: 10.1093/brain/awl161  0.56
2006 Demer JL, Ortube MC, Engle EC, Thacker N. 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. 10: 135-42. PMID 16678748 DOI: 10.1016/j.jaapos.2005.12.006  0.56
2006 Tischfield MA, Chan WM, Grunert JF, Andrews C, Engle EC. HOXA1 mutations are not a common cause of Duane anomaly. American Journal of Medical Genetics. Part A. 140: 900-2. PMID 16528738 DOI: 10.1002/ajmg.a.31167  0.56
2006 Chan WM, Traboulsi EI, Arthur B, Friedman N, Andrews C, Engle EC. Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3. Journal of Medical Genetics. 43: e11. PMID 16525029 DOI: 10.1136/jmg.2005.035436  0.56
2006 Engle EC. The genetic basis of complex strabismus. Pediatric Research. 59: 343-8. PMID 16492969 DOI: 10.1203/01.pdr.0000200797.91630.08  0.56
2005 Yamada K, Hunter DG, Andrews C, Engle EC. A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. Archives of Ophthalmology (Chicago, Ill. : 1960). 123: 1254-9. PMID 16157808 DOI: 10.1001/archopht.123.9.1254  0.56
2005 Tischfield MA, Bosley TM, Salih MA, Alorainy IA, Sener EC, Nester MJ, Oystreck DT, Chan WM, Andrews C, Erickson RP, Engle EC. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nature Genetics. 37: 1035-7. PMID 16155570 DOI: 10.1038/ng1636  0.56
2005 Demer JL, Clark RA, Engle EC. Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. Investigative Ophthalmology & Visual Science. 46: 530-9. PMID 15671279 DOI: 10.1167/iovs.04-1125  0.56
2004 Traboulsi EI, Engle EC. Mutations in KIF21A are responsible for CFEOM1 worldwide. Ophthalmic Genetics. 25: 237-9. PMID 15621875 DOI: 10.1080/13816810490911684  0.56
2004 Yamada K, Chan WM, Andrews C, Bosley TM, Sener EC, Zwaan JT, Mullaney PB, Oztürk BT, Akarsu AN, Sabol LJ, Demer JL, Sullivan TJ, Gottlob I, Roggenkäemper P, Mackey DA, ... ... Engle EC, et al. Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). Investigative Ophthalmology & Visual Science. 45: 2218-23. PMID 15223798 DOI: 10.1167/iovs.03-1413  0.56
2004 Jen JC, Chan WM, Bosley TM, Wan J, Carr JR, Rüb U, Shattuck D, Salamon G, Kudo LC, Ou J, Lin DD, Salih MA, Kansu T, Al Dhalaan H, Al Zayed Z, ... ... Engle EC, et al. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science (New York, N.Y.). 304: 1509-13. PMID 15105459 DOI: 10.1126/science.1096437  0.56
2003 Yazdani A, Chung DC, Abbaszadegan MR, Al-Khayer K, Chan WM, Yazdani M, Ghodsi K, Engle EC, Traboulsi EI. A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2). American Journal of Ophthalmology. 136: 861-5. PMID 14597037 DOI: 10.1016/S0002-9394(03)00891-2  0.56
2003 Yamada K, Andrews C, Chan WM, McKeown CA, Magli A, de Berardinis T, Loewenstein A, Lazar M, O'Keefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Morris L, ... ... Engle EC, et al. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nature Genetics. 35: 318-21. PMID 14595441 DOI: 10.1038/ng1261  0.56
2003 Gutowski NJ, Bosley TM, Engle EC. 110th ENMC International Workshop: the congenital cranial dysinnervation disorders (CCDDs). Naarden, The Netherlands, 25-27 October, 2002. Neuromuscular Disorders : Nmd. 13: 573-8. PMID 12921795 DOI: 10.1016/S0960-8966(03)00043-9  0.56
2003 Uyama E, Yamada K, Kawano H, Chan WM, Andrews C, Yoshioka M, Uchino M, Engle EC. 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. Neuromuscular Disorders : Nmd. 13: 472-8. PMID 12899874 DOI: 10.1016/S0960-8966(03)00065-8  0.56
2003 Ryan MM, Engle EC. Acute ataxia in childhood. Journal of Child Neurology. 18: 309-16. PMID 12822814  0.56
2003 Pieh C, Goebel HH, Engle EC, Gottlob I. 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. 241: 546-53. PMID 12819981 DOI: 10.1007/s00417-003-0703-z  0.56
2002 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. 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. 71: 1195-9. PMID 12395297 DOI: 10.1086/343821  0.56
2002 Iannaccone A, McIntosh N, Ciccarelli ML, Baldi A, Mutolo PA, Tedesco SA, Engle EC. Familial unilateral Brown syndrome. Ophthalmic Genetics. 23: 175-84. PMID 12324876 DOI: 10.1076/opge.23.3.175.7882  0.56
2002 Engle EC. The molecular basis of the congenital fibrosis syndromes. Strabismus. 10: 125-8. PMID 12221491 DOI: 10.1076/stra.10.2.125.8142  0.56
2002 Gottlob I, Jain S, Engle EC. Elevation of one eye during tooth brushing. American Journal of Ophthalmology. 134: 459-60. PMID 12208268 DOI: 10.1016/S0002-9394(02)01540-4  0.56
2002 Engle EC, Leigh RJ. Genes, brainstem development, and eye movements. Neurology. 59: 304-5. PMID 12177361  0.56
2002 Mackey DA, Chan WM, Chan C, Gillies WE, Brooks AM, O'Day J, Engle EC. Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus. Human Genetics. 110: 510-2. PMID 12073023 DOI: 10.1007/s00439-002-0707-5  0.56
2002 Engle EC. Applications of molecular genetics to the understanding of congenital ocular motility disorders. Annals of the New York Academy of Sciences. 956: 55-63. PMID 11960793  0.56
2002 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, et al. 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. 3: 3. PMID 11882252 DOI: 10.1186/1471-2156-3-3  0.56
2001 Shivaram SM, Engle EC, Petersen RA, Robb RM. Congenital fibrosis syndromes. International Ophthalmology Clinics. 41: 105-13. PMID 11698741 DOI: 10.1097/00004397-200110000-00011  0.56
2001 Nakano M, Yamada K, Fain J, Sener EC, Selleck CJ, Awad AH, Zwaan J, Mullaney PB, Bosley TM, Engle EC. Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nature Genetics. 29: 315-20. PMID 11600883 DOI: 10.1038/ng744  0.56
2001 Flaherty MP, Grattan-Smith P, Steinberg A, Jamieson R, Engle EC. Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia. Ophthalmology. 108: 1313-22. PMID 11425694 DOI: 10.1016/S0161-6420(01)00582-6  0.56
2001 O'Brien KF, Engle EC, Kunkel LM. Analysis of human sarcospan as a candidate gene for CFEOM1. Bmc Genetics. 2: 3. PMID 11180757 DOI: 10.1186/1471-2156-2-3  0.56
2000 Sener EC, Lee BA, Turgut B, Akarsu AN, Engle EC. A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12. Archives of Ophthalmology (Chicago, Ill. : 1960). 118: 1090-7. PMID 10922204  0.56
2000 Traboulsi EI, Lee BA, Mousawi A, Khamis AR, Engle EC. Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles. American Journal of Ophthalmology. 129: 658-62. PMID 10844060 DOI: 10.1016/S0002-9394(99)00467-5  0.56
1999 Doherty EJ, Macy ME, Wang SM, Dykeman CP, Melanson MT, Engle EC. CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. Investigative Ophthalmology & Visual Science. 40: 1687-94. PMID 10393037  0.56
1999 Engle E. A genetic approach to congenital extraocular muscle disorders Journal of Child Neurology. 14: 34-37. PMID 10223849  0.56
1998 Wang SM, Zwaan J, Mullaney PB, Jabak MH, Al-Awad A, Beggs AH, Engle EC. Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. American Journal of Human Genetics. 63: 517-25. PMID 9683611 DOI: 10.1086/301980  0.56
1998 Swoboda KJ, Engle EC, Scheindlin B, Anthony DC, Jones HR. Mutilating hand syndrome in an infant with familial carpal tunnel syndrome. Muscle & Nerve. 21: 104-11. PMID 9427229 DOI: 10.1002/(SICI)1097-4598(199801)21:1<104::AID-MUS13>3.0.CO;2-3  0.56
1997 Engle EC, Castro AE, Macy ME, Knoll JH, Beggs AH. A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1. American Journal of Human Genetics. 60: 1150-7. PMID 9150162  0.56
1997 Engle EC, Goumnerov BC, McKeown CA, Schatz M, Johns DR, Porter JD, Beggs AH. Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Annals of Neurology. 41: 314-25. PMID 9066352 DOI: 10.1002/ana.410410306  0.56
1995 Engle EC, Marondel I, Houtman WA, de Vries B, Loewenstein A, Lazar M, Ward DC, Kucherlapati R, Beggs AH. 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. 57: 1086-94. PMID 7485159  0.56
1995 Engle EC, Schaefer PW, Doody DP, Hedley-Whyte ET, Khurana D, Krishnamoorthy KS, Ebb DH, Herbert MR. A 29-month-old girl with worsening ataxia, nystagmus, and subsequent opsoclonus and myoclonus New England Journal of Medicine. 333: 579-586. DOI: 10.1056/NEJM199508313330909  0.56
1994 Khurana TS, Engle EC, Bennett RR, Silverman GA, Selig S, Bruns GA, Kunkel LM. (CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein. Human Molecular Genetics. 3: 841. PMID 8081380  0.56
1994 Engle EC, Kunkel LM, Specht LA, Beggs AH. Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nature Genetics. 7: 69-73. PMID 8075644 DOI: 10.1038/ng0594-69  0.56
1993 Dangond F, Engle E, Yessayan L, Sawyer MH. Pre-eruptive varicella cerebellitis confirmed by PCR Pediatric Neurology. 9: 491-493. PMID 7605561 DOI: 10.1016/0887-8994(93)90032-8  0.56
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